The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications

Haoyue Xu; Hang Liu; Tao Chen; Bo Song; Jin Zhu; Xing Liu; Ming Li; Cong Luo

doi:10.1016/j.gendis.2020.01.010

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The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications

更新时间：2022-06-24

- The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications
- Genes & Diseases Vol. 8, Issue 5, (2021)
- 作者机构：
  
  1. Department of Orthopedic, Chongqing Children's Hospital, Chongqing Medical University, No. 136 of Zhong Shan Er Lu,Chongqing,PR China,400014
  2. Department of Pathology, Chongqing Children's Hospital, Chongqing Medical University, No. 136 of Zhong Shan Er Lu,Chongqing,PR China,400014
  3. Molecular Oncology Laboratory, Department of Orthopaedic Surgery, The University of Chicago Medical Center,IL,Chicago,USA,60637
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2020.01.010
  CLC：
- Published：2021，
  
  Published Online：1 September 2021，
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Haoyue Xu, Hang Liu, Tao Chen, et al. The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications. [J]. Genes & Diseases 8(5).(2021)
DOI：

Haoyue Xu, Hang Liu, Tao Chen, et al. The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications. [J]. Genes & Diseases 8(5).(2021) DOI： 10.1016/j.gendis.2020.01.010.

摘要

Abstract

ording to existing reports

mutations in the slow tropomyosin gene (

TPM3

) may lead to congenital fiber-type disproportion (CFTD)

nemaline myopathy (NM) and cap myopathy (CD). They are all congenital myopathies and are associated with clinical

pathological and genetic heterogeneity. A ten-year-old girl with scoliosis was unable to wean from mechanical ventilation after total intravenous anesthesia. The girl has scoliosis

respiratory insufficiency

motion delay and muscle weakness; her younger brother has a similar physiology but does not have scoliosis or respiratory insufficiency

and her parents are healthy. We conducted genetic testing and found a c.502C

G (p.R168G) heterozygous mutation in the family. This mutation originated from the father and was autosomal dominant. Muscle biopsy results indicated that no special structures were present

and the type I fiber ratio was not notably high compared to previous reports. Although the family members have the same mutations

their clinical manifestations are quite different.

关键词

Keywords

Congenital myopathiesHeterogeneityMuscle biopsyMutationTherapyTPM3

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