A Common CHAT Gene Mutation of Congenital Myasthenic Syndrome Found in Kadazandusun Children

Author:

Tan Khian Aun1ORCID,Chew Hui Bein2ORCID,Yacob Yusnita3,Khoo Teik Beng1ORCID

Affiliation:

1. Pediatric Neurology Unit, Hospital Tunku Azizah, Kuala Lumpur, Malaysia.

2. Genetic Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia

3. Molecular Diagnostics Unit, Institute for Medical Research, National Institutes of Health, Selangor, Malaysia

Abstract

AbstractCongenital myasthenic syndrome (CMS) is an uncommon inherited neuromuscular junction disease. The clinical presentation of this disorder is diverse. Typically patients with this disorder present with early-onset swallowing difficulty and apnea in infancy, fluctuating ocular palsies and fatigable proximal muscle weakness during childhood, and late-onset form involving progressive weakness in adulthood. Difficulty in performing neurophysiology studies in children and the absence of a pathognomonic investigation marker increase the challenges in diagnosis of this disorder. The emergence of next-generation sequencing technology has circumvented these challenges somewhat, and has contributed to the discovery of novel mutations. We present here diagnostic odyssey of three CMS patients from two unrelated Kadazandusun kinships and their follow-up treatment. A rare homozygous mutation c.916G > C (p.Val306Leu) in CHAT gene was found in two siblings born of a consanguineous marriage. Third patient had compound heterozygous mutations c.406G > A (p.Val136Met) and c.916G > C (p.Val306Leu) in CHAT gene. We postulate that p.Val306Leu may be a founder mutation in the Kadazandusuns, an indigenous ethnic minority of Borneo Island.

Publisher

Georg Thieme Verlag KG

Subject

Genetics (clinical),Pediatrics, Perinatology and Child Health

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