Article
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.
Molecular psychiatry - 1 Feb 2018
Palmer E E, Stuhlmann T, Weinert S, Haan E, Van Esch H, Holvoet M, Boyle J, Leffler M, Raynaud M, Moraine C, van Bokhoven H, Kleefstra T, Kahrizi K, Najmabadi H, Ropers H-H, Delgado M R, Sirsi D, Golla S, Sommer A, Pietryga M P, Chung W K, Wynn J, Rohena L, Bernardo E, Hamlin D, Faux B M, Grange D K, Manwaring L, Tolmie J, Joss S, Cobben J M, Duijkers F A M, Goehringer J M, Challman T D, Hennig F, Fischer U, Grimme A, Suckow V, Musante L, Nicholl J, Shaw M, Lodh S P, Niu Z, Rosenfeld J A, Stankiewicz P, Jentsch T J, Gecz J, Field M, Kalscheuer V M
Abstract excerpt
Variants in CLCN4, which encodes the chloride/hydrogen ion exchanger CIC-4 prominently expressed in brain, were recently described to cause X-linked intellectual disability and epilepsy. We present detailed phenotypic information on 52 individuals from 16 families with CLCN4-related disorder: 5 affected females and 2 affected males with a de novo variant in CLCN4 (6 individuals previously unreported) and 27...
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