首页 | 本学科首页   官方微博 | 高级检索  
   检索      


Novel FAM126A mutations in hypomyelination and congenital cataract disease
Authors:M Traverso  S Assereto  E Gazzerro  S Savasta  EM Abdalla  A Rossi  S Baldassari  F Fruscione  G Ruffinazzi  MR Fassad  A El Beheiry  C Minetti  F Zara  R Biancheri
Institution:1. Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy;2. Clinica Pediatrica Fondazione IRCCS Policlinico “S. Matteo”, Pavia, Italy;3. Medical Research Institute, Alexandria University, Egypt;4. Pediatric Neuroradiology, Istituto Giannina Gaslini, Largo G. Gaslini, 5, 16147 Genova, Italy;5. Faculty of Medicine, Alexandria University, Egypt
Abstract:Hypomyelination and congenital cataract (HCC, OMIM #610532) is a rare autosomal recessive disorder due to FAM126A mutations characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system. We have identified two novel mutations in three affected members of two unrelated families. Two sibs harbouring a microdeletion causing a premature stop in the protein showed the classical clinical and neuroradiologic HCC picture. The third patient carrying a missense mutation showed a relatively mild clinical picture without peripheral neuropathy. A residual amount of hyccin protein in primary fibroblasts was demonstrated by functional studies indicating that missense mutations are likely to have less detrimental effects if compared with splice-site mutations or deletions that cause the full-blown HCC phenotype, including peripheral nervous system involvement.
Keywords:Myelination  White matter disorder  Cataract  FAM126A gene
本文献已被 ScienceDirect 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号