A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.

IF 4.3 3区材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC

ACS Applied Electronic Materials Pub Date : 2024-01-01 DOI:10.3233/JND-230042

Vikas Nishadham, Rashmi Santhoshkumar, Saraswati Nashi, Seena Vengalil, Mainak Bardhan, Kiran Polavarapu, Sai Bhargava Sanka, Ram Murthy Anjanappa, Karthik Kulanthaivelu, Jitender Saini, Yasha T Chickabasaviah, Atchayaram Nalini

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引用次数: 0

Abstract

Charcot-Marie-Tooth disease 4H(CMT4H) is an autosomal recessive demyelinating form of CMT caused by FGD4/FRABIN mutations. CMT4H is characterized by early onset and slowly progressing motor and sensory deficits in the distal extremities, along with foot deformities. We describe a patient with CMT4H who presented with rapidly progressing flaccid quadriparesis during the postpartum period, which improved significantly with steroid therapy. Magnetic resonance imaging and ultrasonography demonstrated considerable nerve thickening with increased cross-sectional area in the peripheral nerves. A nerve biopsy revealed significant demyelination and myelin outfolding. This is the first report of an Indian patient with a novel homozygous nonsense c.1672C>T (p.Arg558Ter) mutation in the FGD4 gene, expanding the mutational and phenotypic spectrum of this disease.

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印度患者的一种新型 Frabin（FGD4）突变导致轻度 CMT4H 表型。

Charcot-Marie-Tooth 病 4H（CMT4H）是一种常染色体隐性遗传的脱髓鞘型 CMT，由 FGD4/FRABIN 基因突变引起。CMT4H的特点是发病早、进展缓慢，四肢远端运动和感觉障碍，同时伴有足部畸形。我们描述了一名在产后出现快速进展的弛缓性四肢瘫的 CMT4H 患者，该患者在接受类固醇治疗后病情明显好转。磁共振成像和超声波检查显示，患者的周围神经相当增粗，横截面积增大。神经活组织检查显示该病有明显的脱髓鞘和髓鞘外翻现象。这是首次报道一名印度患者的 FGD4 基因发生新型同卵无义 c.1672C>T (p.Arg558Ter) 突变，从而扩大了该病的突变和表型谱。

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来源期刊

ACS Applied Electronic Materials Multiple-

CiteScore

7.20

自引率

4.30%

发文量

567