Abstract Details

Title Glysyl-tRNA Synthetase (GARS) Gene Mutations of Distal Hereditary Motor Neuropathy Type V Patients in Korea

Topic Peripheral Nerve

Presentation(s) P05 - (-)

Poster/Presentation
Number 068

Objective

Background BACKGROUND: As far as our knowledge, GARS mutation is reported few cases since the first discovery in 2003, especially rare in Asian countries rather than western literatures. Moreover, there was no case report of GARS mutation in Korea until this time. This study was performed the whole exome sequencing (WES) to identify genetic defects.

Design/Methods DESIGN/METHODS: This study included 3 patients (2 male, 1 female) of two unrelated Korean families who represented autosomal dominant mode. We performed lower limbs MRI in 2 patients, whole exome sequencing (WES) and nerve conduction studies in all 3 patients.

Results RESULTS: All three patients of our study noticed early sign of hand muscle atrophy in 13-15 year old and followed gait disturbance without sensory symptoms. Neurophysiologic study confirmed diffuse motor axonal neuropathy with low CMAP amplitude, relatively preserved nerve conduction velocity and normal sensory findings, which is compatible with dHMN-V. MRI findings showed fatty degeneration in proximal anterior and posterior compartment thigh and more severely involved in calf muscles. Subsequent capillary sequencing for family members and controls revealed two novel causative mutations, c.598G>A (D200N) and c.794C>T (S265F) in GARS gene. The mutation sites were well conserved between different species, and in silico analysis predicted both mutations may affect protein function.

Conclusions CONCLUSIONS: As a result, we identified two novel GARS mutations as the consideration of two dHMN-V family's causative mutation by using the WES. Comparing with previous studies, phenotype of our patients showed similar pattern of dHMN-V as other cases. This report is first case of GARS mutation in Korean dHMN-V patients.

Authors/Disclosures
Jin Park, MD (Ewha Womans Univ Mokdong Hospital) PRESENTER	Dr. Park has nothing to disclose.
Hyang W. Lee, MD (Ewha Womans Univ Hosp 911-1)	Dr. Lee has nothing to disclose.
Yong-Jae Kim, MD (EWHA Woman's Univ Mokdong Hosp)	No disclosure on file
	No disclosure on file
	No disclosure on file
Kyoung-Gyu Choi (Ewha Womans Univ Hospital)	No disclosure on file
Byung-Ok Choi, MD, PhD (Ewha Womans University)	No disclosure on file

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