Article
A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2018
Ilaslan Erkut, Calvel Pierre, Nowak Dominika, Szarras-Czapnik Maria, Slowikowska-Hilczer Jolanta, Spik Anna, Sararols Pauline, Nef Serge, Jaruzelska Jadwiga, Kusz-Zamelczyk Kamila
Abstract excerpt
Identification of novel genes involved in sexual development is crucial for understanding disorders of sex development (DSD). Here, we propose a member of the START domain family, the X chromosome STARD8, as a DSD candidate gene. We have identified a missense mutation of this gene in 2 sisters with 46,XY gonadal dysgenesis, inherited from their heterozygous mother. Gonadal tissue of one of the sisters contained...
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