Article
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.
Brain & development - 1 Feb 2013
Mignot Cyril, Héron Delphine, Bursztyn Joseph, Momtchilova Marta, Mayer Michèle, Whalen Sandra, Legall Anne, Billette de Villemeur Thierry, Burglen Lydie
Abstract excerpt
Mutations in the SLC9A6 gene cause Christianson syndrome in boys. This X-linked syndrome is characterized by profound mental retardation with autistic behavior, microcephaly, epilepsy, ophthalmoplegia, and ataxia. Progressive cerebellar atrophy with motor regression is a remarkable feature in some patients. We report on a 22year-old male patient with Christianson syndrome carrying the novel p.Gln306X mutation....
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