Published online Jan 7, 2022. doi: 10.12998/wjcc.v10.i1.338
Peer-review started: July 12, 2021
First decision: July 26, 2021
Revised: July 28, 2021
Accepted: November 28, 2021
Article in press: November 28, 2021
Published online: January 7, 2022
Processing time: 170 Days and 18.3 Hours
Ullrich congenital muscular dystrophy (UCMD) is one of the collagen-VI-related myopathies caused by mutations of COL6A1, COL6A2, and COL6A3 genes. Affected individuals are characterized by muscle weakness, proximal joint contracture, distal joint hyperlaxity, and progressive respiratory failure. There is currently no cure for UCMD. Here, we report the clinical manifestations and prenatal diagnosis of compound heterozygous mutations of the COL6A2 gene in a Chinese family with UCMD.
A 3-year-old boy, his 4-year-old brother, their parents, and a 20-wk-old fetus in the mother’s womb were included in the study. The brothers had the typical manifestations of the early-severe subtype: A delayed motor milestone (never walking independently), torticollis, scoliosis, proximal joint contracture, distal joint hyperextension, right hip joint dislocation, and calcaneal protuberance. Both brothers were found by whole-exome sequencing and Sanger sequencing to carry two mutations of the COL6A2 gene (c.1353_c.1354insC, p.Arg453Profs
We report a Chinese family suffering from UCMD. By clarifying the COL6A2 mutations in the probands, the parents had the opportunity to opt for voluntary interruption of the third UCMD pregnancy.
Core tip: We report the clinical manifestations and prenatal diagnosis of compound heterozygous mutations of the COL6A2 gene in a Chinese family with Ullrich congenital muscular dystrophy (UCMD). A 3-year-old boy and his 4-year-old brother had typical UCMD manifestations of the early-severe subtype. They carried two mutations of the COL6A2 gene (c.1353_c.1354 ins C, p.Arg453ProfsTer42/c.2105 G>A, p.Trp702Ter). The absence of collagen VI staining in the younger brother’s muscle was identified accurately. A 20-wk-old fetus in their mother’s womb underwent prenatal diagnosis and carried the same two mutations. After a painful psychological struggle, their parents decided to terminate the pregnancy.