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A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis
JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
 
ID 1193492
Author(s) Filges, Isabel; Kunz, Christophe; Miny, Peter; Boesch, Nemya; Szinnai, Gabor; Wenzel, Friedel; Tschudin, Sibil; Zumsteg, Urs; Heinimann, Karl
Author(s) at UniBasel Szinnai, Gabor
Zumsteg, Urs
Miny, Peter
Heinimann, Karl
Kunz, Christophe
Year 2011
Title A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis
Journal Fertility and sterility
Volume 96
Number 4
Pages / Article-Number 851-855
Keywords Swyer syndrome, 46,XY complete gonadal dysgenesis, SRY, gonadal mosaicism, HMG domain, c.347T > C
Abstract To investigate the familial segregation, role, and function of a novel SRY missense mutation c.347T>C in two half-sisters affected by 46,XY complete gonadal dysgenesis (CDG) compatible with a successful pregnancy outcome.; Phenotypic, mutational, and functional study.; Academic research unit.; Two half-sisters, their common father, and 100 healthy control individuals.; Chromosome, molecular cytogenetic analysis, and Sanger sequencing of the SRY gene in blood lymphocytes of the proband, her affected half-sister, and in inflammatory tissue of the father postmortem. Cloning and expression of high mobility group box carboxy-terminal domains of Sry and electrophoretic mobility shift assay were performed.; Not applicable.; A novel SRY missense mutation c.347T>C (p.Leu116Ser) was identified in two half-sisters and segregates with the CGD phenotype. It is present in the common healthy father in a mosaic state. Functional analyses demonstrate the pathogenic effect of the mutation by a strong reduction of DNA affinity for the mutant p.Leu116Ser SRY protein.; The missense mutation c.347T>C in the high mobility group domain of SRY causes 46,XY CGD. Paternal gonadal mosaicism is likely to explain the familial occurrence of 46,XY CGD suggesting a de novo mutational event during the early stages of embryonic development. This novel mutation is compatible with a successful pregnancy outcome.
Publisher Elsevier
ISSN/ISBN 0015-0282
edoc-URL http://edoc.unibas.ch/dok/A6003735
Full Text on edoc No
Digital Object Identifier DOI 10.1016/j.fertnstert.2011.07.1137
PubMed ID http://www.ncbi.nlm.nih.gov/pubmed/21868002
Document type (ISI) Article
 
   

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