Article
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
American journal of human genetics - 3 Apr 2014
Zhang Xiaochang, Ling Jiqiang, Barcia Giulia, Jing Lili, Wu Jiang, Barry Brenda J, Mochida Ganeshwaran H, Hill R Sean, Weimer Jill M, Stein Quinn, Poduri Annapurna, Partlow Jennifer N, Ville Dorothée, Dulac Olivier, Yu Tim W, Lam Anh-Thu N, Servattalab Sarah, Rodriguez Jacqueline, Boddaert Nathalie, Munnich Arnold, Colleaux Laurence, Zon Leonard I, Söll Dieter, Walsh Christopher A, Nabbout Rima
Abstract excerpt
Progressive microcephaly is a heterogeneous condition with causes including mutations in genes encoding regulators of neuronal survival. Here, we report the identification of mutations in QARS (encoding glutaminyl-tRNA synthetase [QARS]) as the causative variants in two unrelated families affected by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.