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Novel GARS mutation presenting as autosomal dominant intermediate Charcot‐Marie‐Tooth disease
Author(s) -
Nan Haitian,
Takaki Ryusuke,
Hata Takanori,
Ichinose Yuta,
Tsuchiya Mai,
Koh Kishin,
Takiyama Yoshihisa
Publication year - 2019
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12289
Subject(s) - proband , tooth disease , missense mutation , exome sequencing , pes cavus , mutation , genetics , phenotype , medicine , disease , biology , pathology , gene , complication
We report the first family with a glycyl‐tRNA synthetase ( GARS ) mutation with autosomal dominant intermediate Charcot‐Marie‐Tooth disease (DI‐CMT). The proband and the proband's father presented with gait disturbance and hand weakness. Both patients displayed moderately decreased conduction velocities (MNCV) (ranging from 29.2 to 37.8 m/s). A sural nerve biopsy of the father revealed evidence of both axonal loss and demyelination. On exome sequencing, in both the proband and his father, we identified a novel missense mutation (c.643G > C, p.Asp215His) in the GARS gene in a heterozygous state, which is considered to be pathogenic for this DI‐CMT family. The present study broadens current knowledge about intermediate CMT and the phenotypic spectrum of defects associated with GARS .