Article
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.
American journal of human genetics - 4 Feb 2016
Reijnders Margot R F, Zachariadis Vasilios, Latour Brooke, Jolly Lachlan, Mancini Grazia M, Pfundt Rolph, Wu Ka Man, van Ravenswaaij-Arts Conny M A, Veenstra-Knol Hermine E, Anderlid Britt-Marie M, Wood Stephen A, Cheung Sau Wai, Barnicoat Angela, Probst Frank, Magoulas Pilar, Brooks Alice S, Malmgren Helena, Harila-Saari Arja, Marcelis Carlo M, Vreeburg Maaike, Hobson Emma, Sutton V Reid, Stark Zornitza, Vogt Julie, Cooper Nicola, Lim Jiin Ying, Price Sue, Lai Angeline Hwei Meeng, Domingo Deepti, Reversade Bruno, Gecz Jozef, Gilissen Christian, Brunner Han G, Kini Usha, Roepman Ronald, Nordgren Ann, Kleefstra Tjitske
Abstract excerpt
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked genes in which de novo mutations specifically cause ID in females is limited. Here, we report 17 females with de novo loss-of-function mutations in USP9X, encoding a highly conserved deubiquitinating enzyme. The females in our study have...
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