Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report

Halpérin, Daniel; Sapir, Aviad; Wormser, Ohad; Drabkin, Max; Yogev, Yuval; Dolgin, Vadim; Flusser, Hagit; Birk, Ohad S.

doi:10.1007/s10048-020-00617-2

Cited by 2 publications

(2 citation statements)

References 17 publications

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“… 38–40 Previous reports, together with our present findings, strongly emphasize the association between MTMR2 mutations and CMT4B1 disorder. 42 …”

Section: Discussionmentioning

confidence: 99%

“…[38][39][40] Previous reports, together with our present findings, strongly emphasize the association between MTMR2 mutations and CMT4B1 disorder. 42 In addition, as CMT4B1 is a very rare disorder with extreme phenotypic heterogeneity, it is quite challenging for the clinicians to clinically diagnose the patients with CMT4B1 accurately. 43,44 Therefore, genetic screening by whole-exome sequencing is the most significant way for timely and proper clinical diagnosis of patients with CMT4B1.…”

Section: Discussionmentioning

confidence: 99%

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Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot–Marie–Tooth Disease Type 4B1

Du,

Wang,

Wang

et al. 2024

TACG

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Background Charcot–Marie–Tooth disease (CMT) is a heterogeneous group of disorders involving peripheral nervous system. Charcot–Marie–Tooth disease 4B1 (CMT4B1) is a rare subtype of CMT. CMT4B1 is an axonal demyelinating polyneuropathy with an autosomal recessive mode of inheritance. Patients with CMT4B1 usually manifested with dysfunction of the motor and sensory systems which leads to gradual and progressive muscular weakness and atrophy, starting from the peroneal muscles and finally affecting the distal muscles. Germline mutations in MTMR2 gene causes CMT4B1. Material and Methods In this study, we investigated a 4-year-old Chinese boy with gradual and progressive weakness and atrophy of both proximal and distal muscles. The proband’s parents did not show any abnormalities. Whole-exome sequencing and Sanger sequencing were performed. Results Whole-exome sequencing identified a novel homozygous nonsense mutation (c.118A>T; p.Lys40*) in exon 2 of MTMR2 gene in the proband. This novel mutation leads to the formation of a truncated MTMR2 protein of 39 amino acids instead of the wild- type MTMR2 protein of 643 amino acids. This mutation is predicted to cause the complete loss of the PH-GRAM domain, phosphatase domain, coiled-coil domain, and PDZ-binding motif of the MTMR2 protein. Sanger sequencing revealed that the proband’s parents carried the mutation in a heterozygous state. This mutation was absent in 100 healthy control individuals. Conclusion This study reports the first mutation in MTMR2 associated with CMT4B1 in a Chinese population. Our study also showed the importance of whole-exome sequencing in identifying candidate genes and disease-causing variants in patients with CMT4B1.

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“… 38–40 Previous reports, together with our present findings, strongly emphasize the association between MTMR2 mutations and CMT4B1 disorder. 42 …”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot–Marie–Tooth Disease Type 4B1

Du,

Wang,

Wang

et al. 2024

TACG

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More than movement: the proprioceptive system as a new regulator of musculoskeletal biology

Bornstein

Konstantin

Alessandro

et al. 2021

Current Opinion in Physiology

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Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report

Cited by 2 publications

References 17 publications

Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot–Marie–Tooth Disease Type 4B1

Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot–Marie–Tooth Disease Type 4B1

More than movement: the proprioceptive system as a new regulator of musculoskeletal biology

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