Fei Hao

Third Military Medical University, Ch’ung-ch’ing-shih, Chongqing Shi, China

Are you Fei Hao?

Claim your profile

Publications (98)316.73 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: Antibiotics are widely applied in management of acne vulgaris, which raises the issue of antibiotic resistance. Due to improper application and supervision of antibiotics, antibiotic resistance has become a serious problem in China. So, the efficacy of antimicrobial therapy in acne is unclear without an objective monitor of antibiotic resistance of Propionibacterium acnes. This cross-sectional, multicenter observational study is aimed at understanding the status of antibiotic resistance in P. acnes, investigating the measures of acne management in China and analyzing the genotypes of antibiotic-resistant strains of P. acnes. Altogether, 312 strains of P. acnes were collected from patients in five medical centers across central China after reviewing the corresponding medical history in detail. The samples underwent antibiotic susceptibility assays by agar dilution method with a total of 11 classes of antibiotics being tested. The antibiotic-resistant strains were screened and further analyzed by investigation of the genotypes regarding 23S rRNA, 16S rRNA and erm(X). The predominant resistance occurred in macrolides and lincomycin with an overall resistance rate of 47.8%. The resistance to tetracyclines was scarce with only two cases identified. The emergence of minimum inhibitory concentration elevation for tetracyclines is associated with its application history (P < 0.005). The genotypes of the reported macrolide-lincosamide-streptogramin B resistance strains were also spotted in Chinese subjects while other resistance determinants may also exist. The tetracyclines have been proved to be vastly susceptible while macrolides and lincomycin face a serious resistance status in China.
    The Journal of Dermatology 10/2015; DOI:10.1111/1346-8138.13149 · 2.25 Impact Factor

  • Chinese medical journal 10/2015; 128(20):2833-2834. DOI:10.4103/0366-6999.167371 · 1.05 Impact Factor
  • Xiaowei Shi · Tian Qian · Min Li · Fangru Chen · Yan Chen · Fei Hao ·
    [Show abstract] [Hide abstract]
    ABSTRACT: The aberrantly activated monocytes and nuclear factor-kappaB (NF-κB) pathway contribute to the pathogenesis of systemic lupus erythematosus (SLE), and the aberrantly activated NF-κB is associated with defects in the anti-inflammatory A20 in SLE. However, whether SLE monocytes express A20 and whether the A20 expression under sustained proinflammatory stimulation is altered to contribute to the uncontrolled NF-κB inflammatory response are unclear. In this study, we found that the freshly isolated monocytes from SLE patients and healthy controls did not differ in expression levels of IL-1β, IκBα and A20. After TNF-α stimulation for 48 h, the monocytes from both groups expressed higher levels of IL-1β and IκBα than the monocytes without TNF-α treatment. Although the increased levels of NF-κB were observed in the nucleus of both the SLE and control monocytes after 24 h of TNF-α stimulation, the enhancement in SLE monocytes was significantly more robust than in the control monocytes. In addition, while the p-IκBα level in healthy monocytes was increased, the p-IκBα level in SLE monocytes was slightly decreased after TNF-α stimulation. Interestingly, after TNF-α treatment, the A20 expression in SLE monocytes was not markedly altered compared with the untreated SLE monocytes; moreover, the SLE monocytes expressed significantly lower A20 than healthy monocytes with TNF-α treatment at each time point. Results in this study demonstrate that TNF-α activates a significant NF-κB inflammatory response in SLE monocytes, which is at least partially mediated by the aberrantly low expression of A20 upon TNF-α stimulation, contributing to the prolonged inflammatory response in SLE.
    Immunological Investigations 06/2015; 44(5):497-508. DOI:10.3109/08820139.2015.1037957 · 1.99 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Calcipotriol/betamethasone dipropionate combination in a non-alcoholic, lipophilic gel formulation (two-compound gel) has previously been demonstrated as a safe and effective treatment for scalp psoriasis in Caucasian, Hispanic/Latino, and Black/African American populations. The purpose of this randomized, investigator-blinded, active-controlled, 4-week study was to evaluate the efficacy and safety of the two-compound gel in Chinese subjects with scalp psoriasis. Subjects were randomized in a 1 : 1 ratio to four weeks of treatment with either the two-compound gel once daily or calcipotriol scalp solution twice daily. Subjects were evaluated after one, two, and four weeks of treatment. The primary efficacy endpoint was the proportion of subjects who achieved "controlled disease" defined as "clear" or "minimal" disease according to investigator's global assessment of disease severity at week 4. The proportion of subjects who achieved "controlled disease" at week 4 was statistically significantly higher in the two-compound gel group (87.5%) than in the calcipotriol solution group (50.8%), (P < 0.0001). Greater and more rapid improvements with the two-compound gel were also observed in clinical signs (redness, thickness, and scaliness) and itching. The two-compound gel was associated with fewer adverse drug reactions than calcipotriol scalp solution (18.6% vs. 33.1%) (P = 0.011). The calcipotriol/betamethasone dipropionate gel applied once daily was significantly more effective and better tolerated than calcipotriol scalp solution applied twice daily in the treatment of scalp psoriasis over four weeks in Chinese subjects. © 2015 The International Society of Dermatology.
    International journal of dermatology 06/2015; DOI:10.1111/ijd.12788 · 1.31 Impact Factor
  • Yan Chen · Tian Qian · Dongmei Zhang · Heng Yan · Fei Hao ·
    [Show abstract] [Hide abstract]
    ABSTRACT: To evaluate the therapeutic efficacy and safety of anti-IL-17 agents in the treatment of psoriasis, we performed a systemic review and meta-analysis of the relevant published clinical trials, collectively referred to as secukinumab, ixekizumab and brodalumab. 2668 patients in eight eligible trials with psoriasis were selected for the present meta-analysis. The estimated pooled PASI75, PSAI90, physician's global assessment (PGA; clear) showed significant improvements for psoriasis patients who received biotherapy compared with placebo. The results of headache, upper respiratory tract infection and infections demonstrated that there was no significant difference between the biotherapy and placebo groups. But the results of nasopharyngitis demonstrated that there was a significant difference for biotherapy group. The results showed that anti-IL-17 agents were effective and safe for psoriasis patients.
    Immunotherapy 06/2015; 7(9):1-15. DOI:10.2217/imt.15.50 · 2.07 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Psoriasis is a chronic, inflammatory skin disease involving both environmental and genetic factors. According to genome-wide association studies (GWAS), the TNIP1 gene, which encodes the TNF-α-induced protein 3-interacting protein 1 (TNIP1), is strongly linked to the susceptibility of psoriasis. TNIP1 is a widely expressed ubiquitin sensor that binds to the ubiquitin-editing protein A20 and restricts TNF- and TLR-induced signals. In our study, TNIP1 expression decreased in specimens of epidermis affected by psoriasis. Based on previous studies suggesting a role for TNIP1 in modulating cancer cell growth, we investigated its role in keratinocyte proliferation, which is clearly abnormal in psoriasis. To mimic the downregulation or upregulation of TNIP1 in HaCaT cells and primary human keratinocytes (PHKs), we used a TNIP1 specific small interfering hairpin RNA (TNIP1 shRNA) lentiviral vector or a recombinant TNIP1 (rTNIP1) lentiviral vector, respectively. Blocking TNIP1 expression increased keratinocyte proliferation, while overexpression of TNIP1 decreased keratinocyte proliferation. Furthermore, we showed that TNIP1 signaling might involve extracellular signal-regulated kinase1/2 (Erk1/2) and CCAAT/enhancer-binding protein β (C/EBPβ) activity. Intradermal injection of TNIP1 shRNA in BALB/c mice led to exaggerated psoriatic conditions in imiquimod (IMQ)-induced psoriasis-like dermatitis. These findings indicate that TNIP1 has a protective role in psoriasis and therefore could be a promising therapeutic target.
    PLoS ONE 06/2015; 10(6):e0127957. DOI:10.1371/journal.pone.0127957 · 3.23 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Primary localized cutaneous nodular amyloidosis (PLCNA) is a rare form of cutaneous amyloidosis. We report the case of a 65-year-old woman with multiple asymptomatic discrete nodules and atrophic plaques on the thighs of 4 years' duration that had increased in number and size. Results of extensive clinical, histologic, and laboratory evaluation showed no evidence of systemic amyloidosis or myeloma. A diagnosis of PLCNA was made. The patient refused treatment due to the asymptomatic nature of the lesions, and follow-up examination 2.5 years later showed minimal progression of the disease.
    Cutis; cutaneous medicine for the practitioner 06/2015; 95(6):E24-E27. · 0.72 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: T-cell receptor (TCR)-mediated cross-recognition is a major mechanism in the pathogenesis of drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome. However, the characteristics of the TCR repertoire and the clinical significance of repertoire reformation throughout the course of DRESS are unknown. Here, we isolated CD4(+) and CD8(+) T-cells from peripheral blood of 8 DRESS patients at 10-day intervals and, sequenced CDR3-regions of the TCRB chain by high-throughput sequencing to analyze the dynamic reformation in the T-cell repertoire hierarchy. Compared with healthy donors, T-cell expanded in peripheral repertoires from DRESS patient. The extent of fluctuation of dominant CD8(+) T-cell clones, but not of CD4(+) counterparts, correlated positively with the clinical severity and helped classify the enrolled subjects into "fluctuant" and "flat" repertoire groups. The anti-herpesvirus response, which was measured using anti-EBV/HHV antibodies, and the proportion of the homologous CD8(+) EBV-specific clonotypes, in the "fluctuant" group was substantial higher than that in the "flat" group. Furthermore, autoimmune sequelae were observed in a cured "fluctuant" patient. Collectively, the clinical relevance of the fluctuant CD8(+) T-cell repertoires supports the notion that herpes virus-mediated continuously de novo priming of newly pathogenic CD8(+) T-cell clones is an alternate mechanism responsible for the pathogenicity of DRESS.
    Scientific Reports 04/2015; 5:9913. DOI:10.1038/srep09913 · 5.58 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Genome-wide association studies (GWASs) have reproducibly associated ∼40 susceptibility loci with psoriasis. However, the missing heritability is evident and the contributions of coding variants have not yet been systematically evaluated. Here, we present a large-scale whole-exome array analysis for psoriasis consisting of 42,760 individuals. We discover 16 SNPs within 15 new genes/loci associated with psoriasis, including C1orf141, ZNF683, TMC6, AIM2, IL1RL1, CASR, SON, ZFYVE16, MTHFR, CCDC129, ZNF143, AP5B1, SYNE2, IFNGR2 and 3q26.2-q27 (P<5.00 × 10(-08)). In addition, we also replicate four known susceptibility loci TNIP1, NFKBIA, IL12B and LCE3D-LCE3E. These susceptibility variants identified in the current study collectively account for 1.9% of the psoriasis heritability. The variant within AIM2 is predicted to impact protein structure. Our findings increase the number of genetic risk factors for psoriasis and highlight new and plausible biological pathways in psoriasis.
    Nature Communications 04/2015; 6:6793. DOI:10.1038/ncomms7793 · 11.47 Impact Factor
  • Z. Song · X. Deng · W. Chen · J. Xu · S. Chen · H. Zhong · F. Hao ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Background Both microbial antigens and allergens are important factors that can trigger atopic dermatitis (AD). Monocytes from patients with AD have been found to express increased and sustained levels of high-affinity IgE receptor (FcεRI) and Toll-like receptor 2 (TLR2). We hypothesized that putative interactions exist between TLR2 and FcεRI on monocytes in the pathogenesis of AD.Objective This study aimed to understand whether activation of TLR2 by Pam3CSK4 would influence the expression of FcεRI, and whether mitogen-activated protein kinase (MAPK) signalling pathways were involved in such regulation.Methods Peripheral blood monocytes from patients with severe extrinsic AD or healthy control patients were treated with the TLR2 agonist Pam3CSK4. The expression of FcεRI, intracellular TNF-α and MAPK family members were analysed by real-time quantitative PCR, flow cytometry and western blotting.ResultsMonocytes from patients with severe extrinsic AD expressed higher levels of surface FcεRIα than were found in monocytes from healthy controls. Stimulation of human monocytes from patients with Pam3CSK4, but not lipopolysaccharide (LPS), resulted in the up-regulation of surface FcεRI expression by inducing p38 phosphorylation. Pretreatment with a specific inhibitor of p38 kinase inhibited the Pam3CSK4-induced up-regulation of FcεRIα, suggesting the involvement of the p38 pathway in the regulation of this process.Conclusion Our findings indicated interactions between TLR2 and FcεRI occurred via the activation of p38 in patients with severe extrinsic AD, which might indicate insights into understanding the mechanisms of how bacterial infection can exacerbate the clinical features of AD.
    Journal of the European Academy of Dermatology and Venereology 04/2015; 29(11). DOI:10.1111/jdv.13172 · 2.83 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: The objective of the study is to evaluate the efficacy and safety of oral inosine pranobex as compared with acyclovir in the treatment of recurrent herpes labialis (RHL) and recurrent herpes genitalis (RHG). A multicenter double-blind, double-dummy, randomized, controlled, parallel group trial was conducted in 144 patients with RHL and 144 RHG. Patients were assigned to treatment in one of two groups: (i) inosine pranobex group (active inosine pranobex, 1 g four times daily, and acyclovir placebo); or (ii) acyclovir group (active acyclovir, 200 mg five times daily, and inosine pranobex placebo). The total symptom score (TSS) of patients with RHL did not differ in the inosine pranobex and acyclovir group on the 3rd or 7th day of treatment. There was also no difference in the efficacy rates between the two groups. No difference of TSS was observed between patients with RHG taking inosine pranobex and acyclovir on days 3 or 5 of the treatment, respectively. The short-term clinical recurrence rate of RHG at 3-month follow-up was much lower in the inosine pranobex group than acyclovir group. The incidence of hyperuricemia was higher in the inosine pranobex group than acyclovir group. In conclusion, inosine pranobex was as effective as acyclovir in treating RHL and RHG with significantly greater reduction of the short-term recurrence rate of herpes genitalis at 3-month follow up. Long-term recurrence rates at 6 months or longer remain to be determined. Hyperuricemia should be monitored during the treatment. © 2015 Japanese Dermatological Association.
    The Journal of Dermatology 03/2015; 42(6). DOI:10.1111/1346-8138.12845 · 2.25 Impact Factor
  • Y You · Z F Zhai · F R Chen · W Chen · F Hao ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Recent genome-wide or follow-up studies conducted in European or Caucasian populations have identified single nucleotide polymorphisms (SNPs) conferring increased risk to autoimmune diseases. It is unclear whether these observations can apply to systemic lupus erythematosus (SLE) in China. An association study was performed on 395 SLE patients and 378 healthy controls recruited from the Chinese population, in which the IL12RB2 rs3790567, IKZF1 rs2366293, XKR6 rs4240671, TMEM39A rs1132200 and CSK rs34933034 polymorphisms were examined by Matrix Assisted Laser Desorption Time of Flight Mass Spectrometry. The frequency of the A allele of IL12RB2 rs3790567 was lower in the cases compared with the controls (24.8% vs 30.2%, P = 0.018) and significant difference among the AA, AG and GG genotypes of rs3790567 was detected between the SLE patients and healthy controls (P = 0.020). We also found a statistically significant difference in the dominant model (GG+AG vs AA, P = 0.008). There was no correlation between the genotypes and specific sub-phenotypes in the current cohort. Associations with IKZF1 rs2366293, XKR6 rs4240671, TMEM39A rs1132200 and CSK rs34933034 were also lacking (P > 0.05). The results supported the theory that IL12RB2 is associated with SLE in the Chinese population. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
    Tissue Antigens 03/2015; 85(3):200-3. DOI:10.1111/tan.12522 · 2.14 Impact Factor
  • Source
    J Niu · Z Song · X Yang · Z Zhai · H Zhong · F Hao ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Follicular Helper T (TFH) Cells are a population of recently discovered CD4(+) T cells involved in autoimmune diseases. However, the contribution of TFH cells in patients with psoriasis remains unknown. We aimed to investigate the levels of TFH cells, B cells and their clinical relevance in patients with psoriasis. Using multi-colour flow cytometry, we detected different subsets of TFH cells and B cells in the peripheral blood of 27 patients with psoriasis and 13 healthy donors. Serum IL-21 levels were measured by ELISA. The relationship between the levels of TFH cells, IL-21, B cells and disease severity were analysed. Compared with healthy donors, higher levels of circulating CD3(+) CD4(+) CXCR5(+) cells, CD3(+) CD4(+) CXCR5(+) ICOS(+) , CD3(+) CD4(+) CXCR5(+) PD-1(+) , CD3(+) CD4(+) CXCR5(+) ICOS(+) PD-1(+) TFH cells and CD19(+) IgD(+) CD27(-) naive B, CD19(+) CD86(+) activated B, but lower levels of CD19(+) IgD(+) CD27(+) preswitch and CD19(+) IgD(-) CD27(+) postswitch memory B cells, were observed in patients with psoriasis. In addition, serum IL-21 levels in patients with psoriasis were significantly higher than those in healthy donors, and showed to be positively correlated with the levels of different subsets of TFH cells, and the level of CD19(+) CD86(+) B cells was also correlated with TFH cells and IL-21 levels. Furthermore, a significant correlation was found between the levels of CD3(+) CD4(+) CXCR5(+) ICOS(+) TFH cells, CD3(+) CD4(+) CXCR5(+) ICOS(+) PD-1(+) TFH cells, CD19(+) CD86(+) B cells and IL-21 with Psoriasis Area and Severity Index scores. The levels of TFH cells and activated B cells were increased in the peripheral blood of patients with psoriasis, and positively correlated with disease severity. These results suggest that TFH cells and activated B cells may play a role in the pathogenesis of psoriasis. © 2015 European Academy of Dermatology and Venereology.
    Journal of the European Academy of Dermatology and Venereology 02/2015; 29(9). DOI:10.1111/jdv.13027 · 2.83 Impact Factor
  • F-R Chen · Z-F Zhai · X-W Shi · L Feng · B-Y Zhong · W-J Yan · H Wang · Y Chen · Y You · N Luo · D-M Zhang · F Hao ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Studies in animal models have indicated that Pellino 1 is involved in inflammatory and autoimmune diseases, such as systemic lupus erythematosus (SLE). The current study was designed to determine whether PELI1 confers genetic susceptibility to SLE in humans, as assessed in a Chinese Han population. Blood samples were drawn from patients diagnosed with SLE and healthy volunteers. Three single nucleotide polymorphism (SNP) loci with a minor allele frequency of at least 0.05 were chosen to evaluate the correlation between PELI1 genotype and the incidence of SLE. There was a significant difference in the frequency distribution of the rs329497 allele between the SLE patients and the healthy controls (A vs. G; Bonferroni corrected p = 0.036, odds ratio = 0.75, 95% confidence interval = 0.60-0.94). No differences in the genotype and allele frequencies of other SNP loci were observed between the two groups. Furthermore, the alleles and genotypes of the three SNPs were not associated with lupus nephritis. In the Chinese Han population, PELI1 SNPs may be associated with SLE susceptibility. © The Author(s) 2015 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.
    Lupus 02/2015; 24(10). DOI:10.1177/0961203315571463 · 2.20 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: To study the clinicopathologic features, immunophenotype and gene rearrangement of primary cutaneous diffuse large B-cell lymphoma, leg type (PCLBCL). Seven cases of PCLBCL were enrolled into the study. Clinicopathologic analysis, immunohistochemical staining and gene rearrangement for IgH and Igκ were undertaken in the study. All the seven cases were male, and the median age was 72 years. Patients usually presented with multiple purple tumors, nodules, papules and infiltrative plaques. Two patients had a history of leg injury before onset, and one had mosquito bites. Histologically, the tumor involved the dermis and subcutis with dense and diffuse infiltrative pattern composing of centroblasts and/or immunoblasts. Immunohistochemical staining showed that seven cases (7/7) expressed CD20, six (6/6) expressed bcl-2, four (4/4) expressed MUM-1, four (4/5) expressed CD79a, four (4/5) expressed PAX-5 and four (4/6) expressed bcl-6, respectively. All cases did not express CD3ε, CD45RO, CD10 and CD30. IgH gene rearranged bands were detected in three (3/6) cases and Igκ was detected in one (1/5) case. Six of the seven cases died and the remaining patient, who was 44-year-old, was alive after 22 months of follow-up. PCLBCL is rare, predominantly affects elderly male patients. PCLBCL has poor prognosis and high mortality, but younger patients seem to have better prognosis. Some cases had a history of trauma or mosquito bites. The relationship between the history and the onset of PCLBCL needs further evaluation.
    Zhonghua bing li xue za zhi Chinese journal of pathology 02/2015; 44(2):100-105.
  • Source
    H. Zhong · X. Deng · Z. Song · U. Darsow · W. Chen · S. Chen · N. Luo · F. Hao ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Background Allergen-specific immunotherapy (ASIT) is the main treatment for inducing long-term immunological and clinical tolerance in patients with IgE-mediated allergic diseases. Recent open-label and controlled studies on the efficacy of ASIT in patients with atopic dermatitis (AD) have provided promising results. However, data about possible relationship between the improvement of clinical symptoms and changes of serum cytokines are limited.Methods Seventy-nine patients with moderate to severe AD sensitized to house dust mite (HDM) were enrolled. Fifty-eight patients were treated with ASIT and 11 controls received only symptomatic treatment. The disease activity in AD patients was evaluated by using the patient-oriented eczema measure (POEM) system. Serum interleukin (IL)-4, IL-10, interferon (IFN)-γ, transforming growth factor (TGF) β1, total IgE, HDM-specific IgE (s-IgE) and HDM-specific IgG4 (s-IgG4) were measured before and after 2 years of therapy.ResultsThe mean patient-oriented eczema measure system (POEM) score of AD patients with ASIT significantly decreased after 2 years of treatment, compared to that in patients without ASIT. After ASIT, the serum levels of IL-10, TGF-β1, IFN-γ and s-IgG4 increased, while the level of IL-4 decreased. The change in the POEM score was negatively correlated with changes of serum concentration of TGF-β1, s-IgG4 and IFN-γ. Furthermore, s-IgG4 levels were positively correlated with changes in the IL-10 levels. No correlation between POEM score and serum IL-10 or IL-4 was observed.Conclusion Clinical symptoms and the quality of life of AD with HDM sensitization could be improved after 2 years of ASIT. Changes in serum IL-10, TGF-β1, s-IgG4 and IFN-γ might be considered as biomarkers to assist clinical evaluation of the therapeutic effects of ASIT in patients with AD.
    Journal of the European Academy of Dermatology and Venereology 11/2014; 29(7). DOI:10.1111/jdv.12813 · 2.83 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Ascher syndrome is a rare, benign skin disorder characterized by a double upper lip, blepharochalasis, and nontoxic enlargement of the thyroid gland. The exact cause is unknown, but it is considered to be a hereditary disease with an autosomal dominant trait. We report here a case of forme fruste Ascher syndrome in a 29-year-old man.
    Dermatologica Sinica 10/2014; 33(1). DOI:10.1016/j.dsi.2014.09.003 · 0.88 Impact Factor
  • Xuemei Lan · Heng Yan · Fei Hao · Li Wang · XiChuan Yang ·

    European journal of dermatology: EJD 10/2014; 24(6). DOI:10.1684/ejd.2014.2429 · 1.99 Impact Factor
  • X. Deng · F. Chen · Z. Song · H. Yan · Y. You · B. Zhong · X. Yang · F. Hao ·

    Journal of the European Academy of Dermatology and Venereology 09/2014; DOI:10.1111/jdv.12657 · 2.83 Impact Factor
  • Source
    Hong Guo · Na Luo · Fei Hao · Yun Bai ·
    [Show abstract] [Hide abstract]
    ABSTRACT: Hutchinson–Gilford progeria syndrome (HGPS) is a typical presenile disorder, with mutation in the LMNA gene. Besides HGPS, mutations in LMNA gene have also been reported in atypical progeroid syndrome (APS). The objective of the study was to investigate the phenotype and molecular basis of APS in a Chinese family. LMNA gene mutations were also reviewed to identify the phenotypic and pathogenic differences among APS. Two siblings in a non-consanguineous Chinese family with atypical progeria were reported. The clinical features were observed, including presenile manifestations such as bird-like facial appearance, generalized lipodystrophy involving the extremities and mottled hyperpigmentation on the trunk and extremities. A heterozygous mutation c.11C>G (p.Pro4Arg) of the LMNA gene was detected in the two patients. 28 different variants of the LMNA gene have been reported in APS families, spreading over almost all the 12 exons of the LMNA gene with some hot-spot regions. This is the first detailed description of an APS family without metabolism abnormalities. APS patients share most of the clinical features, but there may be some distinct features in different ethnic groups.
    Gene 08/2014; 546(1):35–39. DOI:10.1016/j.gene.2014.05.042 · 2.14 Impact Factor

Publication Stats

1k Citations
316.73 Total Impact Points


  • 2004-2015
    • Third Military Medical University
      • Southwest Hospital
      Ch’ung-ch’ing-shih, Chongqing Shi, China
  • 2013
    • Jiangnan University
      • School of Biotechnology
      Wu-hsi, Jiangsu Sheng, China
    • Dalian Medical University
      • Department of Physiology
      Lü-ta-shih, Liaoning, China
    • Southwest Hospital
      Nan-ching-hsü, Jiangxi Sheng, China
  • 2006
    • 307 Hospital of the Chinese People's Liberation Army
      Peping, Beijing, China