Edward S Tobias, Angela K Lucas-Herald, Danielle Sagar, Augusto C Montezano, Francisco J Rios, Livia De Lucca Camargo, Graham Hamilton, Gabriella Gazdagh, Louise A Diver, Nicola Williams, Pawel Herzyk, Rhian M Touyz, Andy Greenfield, Ruth McGowan, S Faisal Ahmed
PURPOSE: Disorders/differences of sex development (DSD) result from variants in many different human genes but, frequently, have no detectable molecular cause. METHODS: Detailed clinical and genetic phenotyping was conducted on a family with three children. A Sec31a animal model and functional studies were used to investigate the significance of the findings. RESULTS: By trio whole-exome DNA sequencing we detected a heterozygous de novo nonsense SEC31A variant, in three children of healthy non-consanguineous parents...
February 24, 2024: Endocrine