Novel mutations in <i><scp>SH</scp>3<scp>TC</scp>2</i> in a young Japanese girl with Charcot‐Marie‐Tooth disease type 4C

Ichikawa, Kazushi; Numasawa, Keita; Takeshita, Saoko; Hashiguchi, Akihiro; Takashima, Hiroshi

doi:10.1111/ped.13152

Cited by 3 publications

(2 citation statements)

References 10 publications

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“…The onset and progression of scoliosis, the function of the hands and the strength of the feet should be monitored. Genetic counseling should definitely be given to the family [9] .…”

Section: Di̇scussi̇onmentioning

confidence: 99%

Charcott-Marie-Tooth Disease Type 4c Caused from a Pathogenic Homozygous c.1897delG (p.Ala633Profs * 12) Variation in The SH3TC2 Gene

Kurt¹,

Doğan²,

Eröz³

2021

Hong Kong J Pediatr Res

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Charcot-Marie-Tooth (CMT) is a group of diseases with peripheral nerve involvement known as hereditary sensory and motor neuropathy (1). It is the most common inherited neuromuscular disorder. CMT usually begins to show symptoms in the first 10 years and 20s. Clinical symptoms are bilateral, symmetrical sensory and motor polyneuropathy. Its diagnosis is based on clinical findings, EMG and molecular genetic tests. Its treatment is symptomatic. In this article, a CMT Type 4c patient with scoliosis, kyphosis, bilateral sensory and motor polyneuropathy and having SH3TC2 mutation, which is very rare in genetic analysis, is presented.

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“…The onset and progression of scoliosis, the function of the hands and the strength of the feet should be monitored. Genetic counseling should definitely be given to the family [9] .…”

Section: Di̇scussi̇onmentioning

confidence: 99%

Charcott-Marie-Tooth Disease Type 4c Caused from a Pathogenic Homozygous c.1897delG (p.Ala633Profs * 12) Variation in The SH3TC2 Gene

Kurt¹,

Doğan²,

Eröz³

2021

Hong Kong J Pediatr Res

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“…Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy with demyelinating features caused by mutations in the SH3TC2 (SH3 domain and tetratricopeptide repeats 2) gene [ 1 ]. There is significant clinical heterogeneity in this condition, and although there are patients reported from all over the world, the majority of them are of European descent [ 2 , 3 , 4 , 5 ]. Interestingly, although mutations are described in gypsies, who originated from India, there have been few publications on patients of Asian Indian descent [ 6 , 7 , 8 , 9 ].…”

Section: Introductionmentioning

confidence: 99%

Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C

Grewal¹,

Oberoi²,

Peddareddygari

2018

Case Rep Neurol

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Charcot-Marie-Tooth disease type 4C, an autosomal recessive genetic neuropathy, is caused by mutations in the SH3TC2 (SH3 domain and tetratricopeptide repeats 2) gene. Interestingly, although mutations in this gene have been observed in European gypsies, a population that originated in India, there are few publications describing Indian patients. We report our analysis of a 50-year-old woman of Asian Indian descent with onset of progressive distal weakness and sensory loss in childhood. A clinical examination revealed the presence of a neuropathy with pes cavus without spinal abnormalities. Electrophysiological testing confirmed a sensorimotor length-dependent neuropathy with demyelinating features. A genetic analysis revealed she carries 2 novel mutations, c.2488G>T variant (rs879254317) and c.731+5G>A variant (rs879254316), in the SH3TC2 gene. Further genetic testing demonstrated that her son is a carrier of the c.731+5G>A mutation. Our analysis confirms that this patient is a compound heterozygote inheriting these mutations, which are in trans, in an autosomal recessive pattern. Her son developed an episode of sciatic neuropathy with complete resolution. We hypothesize that in his case, haploinsufficiency caused by c.731+5G>A mutation may have predisposed him to the development of this focal neuropathy.

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Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2

et al. 2018

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SH3TC2, known as the causative gene of autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C), was also found linked to a mild mononeuropathy of the median nerve with an autosomal dominant inheritance pattern. Using DNA microarray, Illumina MiSeq, and Ion proton, we carried out gene panel sequencing among 1483 Japanese CMT patients, containing 397 patients with demyelinating CMT. From seven patients with demyelinating CMT, we identified eight recessive variants in the SH3TC2 gene, consisting of five novel (pathogenic/likely pathogenic) and three reported variants. Additionally, from two patients with axonal CMT, we detected a reported recessive variant, p.Arg77Trp, which was herein reclassified as variant with unknown significance. Of the seven CMT4C patients (six females and one male), 2/7 patients developed symptoms at their first decade, and 5/7 patients lost their ambulation around age 50. Scoliosis was observed from more than half (4/7) of these patients, whereas hearing loss is the most common symptom of central nervous system (6/7). No median nerve mononeuropathy was recorded from their family members. We identified recessive variants in SH3TC2 from 1.76% of demyelinating CMT patients. An uncommon gender difference was recognized and the wild spectrum of these variants suggests mutational diversity of SH3TC2 in Japan.

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Novel mutations in SH3TC2 in a young Japanese girl with Charcot‐Marie‐Tooth disease type 4C

Cited by 3 publications

References 10 publications

Charcott-Marie-Tooth Disease Type 4c Caused from a Pathogenic Homozygous c.1897delG (p.Ala633Profs * 12) Variation in The SH3TC2 Gene

Charcott-Marie-Tooth Disease Type 4c Caused from a Pathogenic Homozygous c.1897delG (p.Ala633Profs * 12) Variation in The SH3TC2 Gene

Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2

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