A mutation of beta-tropomyosin gene in a Chinese family with distal arthrogryposis type I.

ABSTRACT: BACKGROUND:Distal arthrogryposis (DA) is the most common congenital limb malformation secondary to the functional defects of joints and muscles. DA1 is one of the most commonly described forms of DA. The characteristics of DA1 include bilateral and symmetric clenched fist, overlapping fingers, camptodactyly, ulnar deviation of fingers, and positional foot deformities such as talipes equinovarus. Previous studies demonstrate that mutations of TPM2, TNNI2, TNNT3, MYH3 and MYBPC1 may contribute to DA1. MATERIALS AND METHODS:The present study investigated 8 DA1 families/patients and 1 DA2B patient, determined sequences of TPM2, TNNI2, TNNT3, MYH3 and MYBPC1 and detected the mutation by multiple sequence alignments and bioinformatic prediction of mutation. RESULTS:We identified a novel missense mutation of TPM2 (c.463G>A; p.A155T) in a DA1 family without genetic mutant of TNNI2, TNNT3, MYH3 and MYBPC1. CONCLUSION:The mutation of TPM2 (c.463G>A; p.A155T) led to DA1 of the family. The identification of the mutation expands the spectrum of known TPM2 mutations, and it may contribute to novel approaches to genetic diagnosis and counseling of families with DA1.

SUBMITTER: Jin JY 

PROVIDER: S-EPMC6965825 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature