A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family.

ABSTRACT:

Background

Distal arthrogryposis (DA) is a group of congenital autosomal-dominant disorders secondary to defects in joint and muscle function, characterized by multiple joint contractures of the hands and feet. DA can be divided into 10 types according to clinical features. DA has been confirmed to be caused by mutations in genes encoding components of the contractile apparatus of skeletal muscle fibers, such as troponin I2 (TNNI2).

Methods

In this study, we report a three-generation DA family belonging to the DA2B type. The clinical characteristics of affected members are genetically stable and consistent, with severe deformities in hands and feet, and two affected adults had short stature. None exhibited facial abnormalities. Blood from three affected and three healthy mem

SUBMITTER: Li Y 

PROVIDER: S-EPMC9747562 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature