Article
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2016
Mazen Inas, Abdel-Hamid Mohamed, Mekkawy Mona, Bignon-Topalovic Joëlle, Boudjenah Radia, El Gammal Mona, Essawi Mona, Bashamboo Anu, McElreavey Ken
Abstract excerpt
The phenotypic spectrum of patients carrying NR5A1 mutations ranges from 46,XY gonadal dysgenesis to male infertility. Phenotypic variability could be due to digenic or oligogenic inheritance of pathogenic variants in other testis-determining genes. Here, exome sequencing identified 2 pathogenic de novo NR5A1 mutations in 2 patients with 46,XY gonadal dysgenesis, p.Q206Tfs*20 and p.Arg313Cys. The latter patient...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.