期刊
GENE
卷 534, 期 2, 页码 431-434出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2013.10.023
关键词
Charcot-Marie-Tooth 2B disease; Linkage; Mutation; RAB7 gene
资金
- Chinese National Natural Science Foundation [81000079, 81170165]
Charcot-Marie-Tooth type 28 (CMT2B) disease is a hereditary motor and sensory neuropathy subtype characterized by prominent loss of sensation, distal muscle weakness and wasting skin ulcers. Recurrent ulcers often require amputation of lower limbs. To date, only four mutations of the RAB7 gene, which encodes the small GTPase, have been associated with CMT2B. A Chinese family with CMT2B was identified. Direct DNA sequencing performed on the affected individuals in this family revealed a novel mutation (p.Asn161Ile) in RAB7. The mutation is located in a potential mutational hotspot region, implicating the importance of this region for RAB7 protein. This is the first report of RAB7 mutation in Asian population. (C) 2013 Elsevier B.V. All rights reserved.
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