Sérgio B Sousa

Sérgio B Sousa
Centro Hospitalar de Coimbra | chc · Department of Medical Genetics

MD, PhD

About

40
Publications
10,008
Reads
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1,061
Citations
Additional affiliations
October 2014 - present
Universidade da Beira Interior
Position
  • Research Assistant
October 2009 - December 2013
University College London
Position
  • PhD Student
Education
October 2009 - September 2013
University College London
Field of study
  • Child Health
October 2005 - October 2007
University of Porto
Field of study
  • Molecular Medicine and Oncology
September 1995 - September 2001
University of Coimbra
Field of study
  • Medicine

Publications

Publications (40)
Article
Full-text available
Mutations in SNX14 cause the autosomal recessive cerebellar ataxia 20 (SCAR20). Mutations generally result in loss of protein although several coding region deletions have also been reported. Patient-derived fibroblasts show disrupted autophagy, but the precise function of SNX14 is unknown. The yeast homolog, Mdm1, functions in endoplasmic reticulu...
Article
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical charac...
Article
Full-text available
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical charac...
Article
EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the formation of HS proteoglycans (HSPGs). By whole-exome sequencing, we identified homozygous missense mutations c.1382C>T, c.1537C>T, c.1970A>G, and c.2008T>G in EXTL3 in nine affected individuals from five unrelated famili...
Article
(American Journal of Human Genetics 95, 611–621; November 6, 2014) In this article, mutation c.1894+1G>A in Table 1 and on page 616 is incorrect and should have been c.1894+1G>T, as correctly written in Figure 2. In addition, Figure 2C incorrectly shows that c.1894+1G>T occurs in intron 17. The correct intron is 19, as noted on page 616. A revised...
Article
Full-text available
Intellectual disability and cerebellar atrophy occur together in a large number of genetic conditions and are frequently associated with microcephaly and/or epilepsy. Here we report the identification of causal mutations in Sorting Nexin 14 (SNX14) found in seven affected individuals from three unrelated consanguineous families who presented with r...
Article
Nicolaides–Baraitser syndrome (NCBRS) is an intellectual disability (ID)/multiple congenital anomalies syndrome caused by non-truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin remodeling complex. We analyzed 61 molecularly confirmed cases, including all previousl...
Article
We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino-varus, clinodactyly, and...
Article
Full-text available
Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which...
Article
Full-text available
Point mutations of the PRKAR1A gene are a genetic cause of Carney complex (CNC) and primary pigmented nodular adrenocortical disease (PPNAD), but in 30% of the patients no mutation is detected. Set up a routine-based technique for systematic detection of large deletions or duplications of this gene and functionally characterize these mutations. Mul...
Article
Here we report on a Portuguese family with three sisters who shared moderate intellectual disability, unusual facial morphology (short palpebral fissures; broad nasal tip; thin upper and lower vermillion; broad and pointed chin) and hand anomalies in two of them (short left third and fifth right metacarpals in one case; marked syndactyly between th...
Article
Full-text available
Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten individuals with NBS and identified heterozygous variants in SMARCA2 in eight of them. Extended molecular screening identified nonsynonymous SMARCA2 mutations in 36 of...
Data
Expression of Smoc1 in the limb buds and eye, and phenotype in Smoc1tm1a/tm1a limbs. (a–c) Magnified images and digital section of the same OPT reconstruction of a wild-type E10.5 embryo shown in Figure 2 with green staining representing Smoc1 expression. (a) Smoc1 expression is seen in both the dorsal and ventral surface of the forelimb buds. (b)...
Data
OPT analysis of Smoc1 expression in wild-type E9.5 mouse embryo. (MPG)
Data
Alignment of human SMOC-1 Thyroglobulin type-1 (Tg1) domains with Tg1 domains from mouse Smoc-1, Xenopus tropicalis Smoc-1 and Drosophila melanogaster Pentagone. Alignment of the Tg1-1 and Tg1-2 domains from mouse Smoc-1 and human SMOC-1 with the Tg1-2 domains from Xenopus tropicalis Smoc-1 and Drosophila melanogaster Pentagone. The position of ide...
Data
OPT analysis of Smoc1 expression in wild-type E10.5 mouse embryo. (MPG)
Data
UCSC custom track for the hg18 genome build that represents the distribution of homozygous regions in the individuals affected with Ophthalmo-acromelic syndrome in our study. The homozygous regions are defined as the genomic coordinates encompassing 20 contiguous homozygous genotypic calls. The regions surrounding SMOC1 shows the multiple overlappi...
Data
Phenotypic analysis and X-gal staining of Smoc1 mutant animals. (a & b) Low power magnification of H&E stained eyes revealed that mutant eyes were grossly normal but that overall eye size was reduced. (c & d) Higher magnification analysis revealed normal organization and retinal cell-layer lamination in Smoc1tm1a/tm1a mutant eyes. Abbreviations: c,...
Article
Full-text available
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent targeted mutation analysis of a locus on 14q24.2 identified homozygous mutations in SMOC1 (SPARC-related m...
Article
Full-text available
Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO). To identify...
Article
Angelman syndrome (AS) is characterised by severe developmental delay, severe speech impairment, gait ataxia and/or limb tremor and a unique behavioural phenotype. The diagnosis of AS is based on a combination of clinical features and molecular genetic testing. Currently, molecular genetic testing (methylation analysis and UBE3A sequence analysis)...
Article
Full-text available
Objective. To evaluate the quality of prenatal results in all cases of termination of pregnancy (TOP) due to fetal abnormalities in a tertiary prenatal diagnosis center. Material and Methods. Retrospective analysis of the 385 TOP performed on our department due to fetal abnormalities between January 1, 2000, and December 31, 2007. We compared all...
Article
We report on two unrelated cases born to nonconsanguineous parents with a similar clinical presentation: hypotonia since the neonatal period, severe failure to thrive, postnatal growth retardation, facial dysmorphism, congenital cardiac defects (septal defect and non progressive multiple valve dysplasia), shortened extremities, carpal/tarsal and ex...
Article
Full-text available
Mucopolysaccharidosis (MPS) VI is an inheritable lysosomal storage disorder that is often associated with severe orthopedic problems such as hip dysplasia, spinal deformities, and deformities in the skull, knees and hands. We describe the progression and management of three MPS VI cases with focus on their orthopedic problems.
Article
Nicolaides-Baraitser syndrome (NBS) is an infrequently described condition, thus far reported in five cases. In order to delineate the phenotype and its natural history in more detail, we gathered data on 18 hitherto unreported patients through a multi-center collaborative study, and follow-up data of the earlier reported patients. A detailed compa...
Article
Mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3) are associated with Achondroplasia (MIM 100800), Hypochondroplasia (MIM 146000), Muenke Syndrome (MIM 602849), Thanatophoric Dysplasia (MIM 187600, MIM 187601) and Lacrimo-Auriculo-Dento-Digital Syndrome (MIM 149730).Here we report a clinical and molecular study in a lar...
Article
There are several entities that combine a skeletal dysplasia with a retinal dystrophy. Recently, another possibly autosomal recessive entity was added to this group characterized by a specific spondylometaphyseal dysplasia and a cone-rod dystrophy, without other significant impairments. The entity was named SMD-CRD. We further delineate this disord...
Article
Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature centro...
Article
Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation. By molecular karyotyping with GeneChip Human Mapping 100K SNP arrays, we detected a 1.2-Mb deletion on 18q21.2 in one patient. Sequencing of the TCF4 transcription factor gene, which is c...

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