[show abstract][hide abstract] ABSTRACT: To analyze the clinical manifestation, clinicopathologic features and alpha-galactosidase A (GLA) gene mutations in a pedigree with Fabry disease.
In this study, we retrospectively collected the clinical data of the members in the pedigree with Fabry disease, then the clinicopathologic features of the male proband were analyzed by renal biopsy, and GLA gene was detected by PCR and direct sequencing.
1) The proband was characterized by pigmentation of bilateral lower extremities, episodes of neuropathic pain, and renal dysfunction. The renal biopsy showed secondary focal segmental glomerulosclerosis with massive foam-cell liked podocytes under light microscope and abundant inclusions in podocytes which were round, comprising concentric layers of dense material separated by clear spaces under electron microscope. 2) The proband was identified to present a missense mutation as CAG119TAG (Q119T). The mother and niece of the proband were the carriers of this missense mutation.
We identified a family with Fabry disease resulting from a novel point mutation of GLA gene, which has not been reported before in Chinese population.
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 11/2012; 43(6):948-51.
[show abstract][hide abstract] ABSTRACT: To identify the responsible mutation of autosomal dominant polycystic kidney disease (ADPKD) in two Chinese families.
Total genomic DNA of all available family members and 100 unrelated healthy controls was extracted from peripheral blood leukocytes using a standard phenol-chloroform procedure. All exons with intronic flanking sequences of the PKD1 and PKD2 genes in the probands were amplified by PCR. Mutations were detected directly by DNA sequencing. To evaluate the pathogenicity of the variations, family and control based analyses were performed.
Five sequence variants were identified in the two families including PKD1 :c.2469G to A, PKD1:c.5014_5015delAG, PKD1:c.10529 C to T, PKD2:c.568G to A and PKD2:c.2020 1_2020delAG. Among them, PKD1:c.2469G to A and PKD2:c.2020 1_2020 delAG were novel mutations. Furthermore, the frameshift and splicing site mutations detected in the affected individuals were not detected in their unaffected relatives and 100 unrelated normal controls.
PKD1:c.5014_5015delAG and PKD2:c.2020 1_2020delAG are the responsible mutations of family A and B, respectively, and PKD2:c.2020 1_2020delAG is a de novo mutation.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 10/2011; 28(5):485-9.
[show abstract][hide abstract] ABSTRACT: Adult polycystic kidney disease (APKD) is a severe autosomal dominant inheritable renal disease with high incidence. Because of the late-onset of the disease, patients might have transferred the disease gene to the next generation when diagnosis is made. Since its pathogenic molecular mechanism is still not completely clear and the shortage of effective medicines, the prevention and treatment of the disease is still not satisfactory. In the present article, the recent advances in the research on the pathogenesis, gene diagnosis and management of APKD are reviewed.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 08/2010; 27(4):402-5.