两名患有先天性肌张力减退和髓鞘形成低下性神经病变的兄弟姐妹中，CNTNAP1基因存在两个新的变异。
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.
作者信息
Nizon Mathilde, Cogne Benjamin, Vallat Jean-Michel, Joubert Madeleine, Liet Jean-Michel, Simon Laure, Vincent Marie, Küry Sébastien, Boisseau Pierre, Schmitt Sébastien, Mercier Sandra, Bénéteau Claire, Larrose Catherine, Coste Marianne, Latypova Xénia, Péréon Yann, Mussini Jean-Marie, Bézieau Stéphane, Isidor Bertrand
机构信息
Service de Génétique Médicale, CHU Hôtel Dieu, France.
Centre de référence « neuropathies périphériques rares », service de Neurologie, CHU Limoges, France.
出版信息
Eur J Hum Genet. 2017 Jan;25(1):150-152. doi: 10.1038/ejhg.2016.142. Epub 2016 Oct 26.
Homozygous frameshift variants in CNTNAP1 have recently been reported in patients with arthrogryposis and abnormal axon myelination. In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense variant, p.(Cys323Arg). Motor nerve conductions were markedly decreased. Nerve microscopical lesions confirmed a severe hypomyelinating process and showed loss of attachment sites of the myelin loops on the axons, which could be a characteristic of Caspr loss-of-function. We discuss the pathophysiology of the myelination process and we propose to consider this disorder as a congenital hypomyelinating neuropathy.
最近有报道称，关节挛缩和轴突髓鞘形成异常的患者中存在CNTNAP1纯合移码变异。在两名患有严重先天性肌张力减退和足部畸形的兄弟中，我们在CNTNAP1中鉴定出复合杂合变异，报告了首个致病性错义变异p.(Cys323Arg)。运动神经传导明显降低。神经显微镜检查病变证实存在严重的髓鞘形成不足过程，并显示髓鞘环在轴突上的附着位点缺失，这可能是接触蛋白相关蛋白（Caspr）功能丧失的特征。我们讨论了髓鞘形成过程的病理生理学，并建议将这种疾病视为先天性髓鞘形成不足性神经病。
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