title: A novel SOX9 nonsense mutation, q401x, in a case of campomelic dysplasia with XY sex reversal.
abstract: Campomelic dysplasia (CD, MIM 114290) is a rare, often lethal, dominantly inherited, congenital skeletal dysplasia, associated with male-to-female autosomal sex reversal and due to de novo mutations of the SOX9 gene, a tissue-specific transcription factor gene involved both in skeletogenesis and male sexual differentiation. Here we report on a 4 months-old 46,XY sex reversed infant with typical clinical features for CD due to a novel mutation of the SOX9 gene, Q401X, leading to synthesis of a truncated SOX9 protein that completely lacks the C-terminal transactivation domain.
authors: Department of Pediatrics and Medical Genetics, Medical University Plovdiv, Bulgaria. radka_stoeva@yahoo.com
authors: R
authors: R
authors: Stoeva
authors: L
authors: L
authors: Grozdanova
authors: G
authors: G
authors: Scherer
authors: M
authors: M
authors: Krasteva
authors: E
authors: E
authors: Bausch
authors: T
authors: T
authors: Krastev
authors: A
authors: A
authors: Linev
authors: M
authors: M
authors: Stefanova