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Novel mutations in SH 3 TC 2 in a young Japanese girl with Charcot‐Marie‐Tooth disease type 4C
Author(s) -
Ichikawa Kazushi,
Numasawa Keita,
Takeshita Saoko,
Hashiguchi Akihiro,
Takashima Hiroshi
Publication year - 2016
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.13152
Subject(s) - medicine , pes cavus , nerve conduction velocity , tooth disease , ankle , sural nerve , compound heterozygosity , sensory nerve , anatomy , mutation , genetics , sensory system , disease , gene , neuroscience , complication , biology
Charcot‐Marie‐Tooth disease type 4C ( CMT 4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH 3 TC 2 . We describe the case of a 10‐year‐old Japanese girl diagnosed with CMT 4C. The patient developed progressive foot deformities such as marked pes cavus and ankle contracture, with mild muscle weakness in both legs, and generalized areflexia. On electrophysiological studies, motor nerve conduction velocity ranged from 22.3 m/s in the tibial nerve to 48.2 m/s in the median nerve. Sensory nerve conduction velocity ranged from 30.3 m/s in the sural nerve to 52.8 m/s in the median nerve. Sequence analysis of candidate genes identified two novel heterozygous mutations, c.229C>T and c.2775G>A, in SH 3 TC 2 . The patient was diagnosed as having CMT 4C with novel mutations, making this the first documented Japanese pediatric case.