A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family
A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab-Israeli family
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DOI：
10.1016/j.ejpn.2012.10.012
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发表时间：
2013-05-01
影响因子：
3.1
通讯作者：
Straussberg, R.
中科院分区：
文献类型：
--
作者：
Abu-Rashid, M.;Mahajnah, M.;Straussberg, R.
巨大轴突神经病是一种严重的儿童常染色体隐性神经退行性疾病，影响周围和中枢神经系统。它是由与染色体 16q24.1 相关的 GAN 基因突变引起的。在具有不同症状和不同临床病程的不同种族血统的家庭中，整个基因中至少发现了 45 种不同的致病突变。迄今为止，尚未确定特征突变或表型-基因型相关性。我们描述了阿拉伯裔近亲父母所生的四个兄弟姐妹的一种新型错义突变，其临床和分子特征与巨大轴突神经病相一致。该表型的特征是主要的运动和感觉周围神经病变以及严重的骨骼畸形。 (C) 2012 年欧洲小儿神经病学协会。由爱思唯尔有限公司出版。保留所有权利。
Giant axonal neuropathy is a severe autosomal recessive neurodegenerative disorder of childhood that affects both the peripheral and central nervous systems. It is caused by mutations in the GAN gene linked to chromosome 16q24.1 At least 45 distinct disease-causing mutations have been identified throughout the gene in families of various ethnic origins, with different symptomatologies and different clinical courses. To date, no characteristic mutation or phenotype-genotype correlation has been established. We describe a novel missense mutation in four siblings born to consanguineous parents of Arab original with clinical and molecular features compatible with giant axonal neuropathy. The phenotype was characterized by a predominant motor and sensory peripheral neuropathies and severe skeletal deformities. (C) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.