Identification of novel TFG mutation in HMSN-P pedigree: Emphasis on variable clinical presentations

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:369

Article

Khani, Marzieh¹  Shamshiri, Hosein²  Alavi, Afagh³  Nafissi, Shahriar²  Elahi, Elahe^1,4 

[1] Univ Tehran, Coll Sci, Sch Biol, Tehran, Iran

[2] Univ Tehran Med Sci, Dept Neurol, Tehran, Iran

[3] Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran

[4] Univ Tehran, Coll Sci, Dept Biotechnol, Tehran, Iran

关键词: HMSN-P;    Hereditary motor and sensory neuropathy with proximal predominance;    TFG;    p.Gly269Val;    Neuronopathy;   

DOI  :  10.1016/j.jns.2016.08.035

来源: Elsevier

【 摘 要 】

We aimed to identify the genetic cause of neurological disease in an Iranian pedigree whose manifestations suggested hereditary motor and sensory neuropathy with proximal predominance (HMSN-P). Identification of a p.Gly269Val mutation in TFG, the known HMSN-P causative gene, provided supportive evidence. Subjective, biochemical, electrodiagnostic, and imaging data were compared with previously reported HMSN-P patients, including patients of an earlier described Iranian pedigree. Although notable clinical variability was found, comparable involvement of proximal and distal muscles was observed in both Iranian pedigrees. Interestingly, the same p.Gly269Val mutation was recently reported as cause of Charcot-Marie-Tooth disease type 2 in a Taiwanese pedigree. The likelihood that the two pedigrees with the p.Gly269Val mutation are not affected with different diseases is discussed. Identification of a second Iranian HMSN-P pedigree further confirms that HMSN-P is not confined to the Far East. Furthermore, p.Pro285Leu that has been the only TFG mutation thus far reported in HMSN-P patients is not the only mutation that can cause the disease. It is emphasized HMSN-P is a neuronopathy. (C) 2016 Elsevier B.V. All rights reserved.

【 授权许可】

Free