Article
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
American journal of medical genetics. Part A - 1 Aug 2017
Gold Wendy A, Sobreira Nara, Wiame Elsa, Marbaix Alexandre, Van Schaftingen Emile, Franzka Patricia, Riley Lisa G, Worgan Lisa, Hübner Christian A, Christodoulou John, Adès Lesley C
Abstract excerpt
GMPPA encodes the GDP-mannose pyrophosphorylase A protein (GMPPA). The function of GMPPA is not well defined, however it is a homolog of GMPPB which catalyzes the reaction that converts mannose-1-phosphate and guanosine-5'-triphosphate to GDP-mannose. Previously, biallelic mutations in GMPPA were reported to cause a disorder characterized by achalasia, alacrima, neurological deficits, and intellectual disability....
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