Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2

Journal of Neurology, Neurosurgery & Psychiatry
Whole-exome sequencing identified novel KIF5A mutations in Chinese patients with amyotrophic lateral sclerosis and Charcot-Marie-Tooth type 2
Introduction

The kinesin heavy chain isoform 5A (KIF5A) gene on chromosome 12q13.3 encodes a neuron-specific kinesin heavy chain (KHC), which consists of an N-terminal motor domain, a stalk domain and a C-terminal cargo-binding domain. KIF5A is an ATPase-active molecular motor protein and is involved in the microtubule-dependent axonal transport of cytoplasmic cargo. KIF5A gene has been identified as a causative gene of hereditary spastic paraplegia (HSP), Charcot-Marie-Tooth (CMT) type 2 (CMT2) and amyotrophic lateral sclerosis (ALS).1 2 As HSP, CMT and ALS affect central and peripheral nervous systems differently, what play a key role for the patients with KIF5A mutation to manifest different phenotype is little known.

In previous reports, the use of different genetic testing methods and ranges may yield inconsistent findings. Hence, we conducted a study using whole-exome sequencing (WES) with the aim of screening the KIF5A gene and other CMT or…
Source: Journal of Neurology, Neurosurgery & Psychiatry

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