Hu J, Chen YH, Fang X, Zhou Y, Chen F. Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report. World J Clin Cases 2022; 10(1): 338-344 [PMID: 35071537 DOI: 10.12998/wjcc.v10.i1.338]
Corresponding Author of This Article
Jun Hu, Doctor, PhD, Assistant Professor, Chief Physician, Department of Pediatrics, Fujian Medical University Union Hospital, No. 29 Xinquan Road, Fuzhou 350001, Fujian Province, China. hujun2252@hotmail.com
Research Domain of This Article
Pediatrics
Article-Type of This Article
Case Report
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Hu J, Chen YH, Fang X, Zhou Y, Chen F. Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report. World J Clin Cases 2022; 10(1): 338-344 [PMID: 35071537 DOI: 10.12998/wjcc.v10.i1.338]
World J Clin Cases. Jan 7, 2022; 10(1): 338-344 Published online Jan 7, 2022. doi: 10.12998/wjcc.v10.i1.338
Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report
Jun Hu, Yan-Hui Chen, Xin Fang, Yu Zhou, Feng Chen
Jun Hu, Yan-Hui Chen, Xin Fang, Department of Pediatrics, Fujian Medical University Union Hospital, Fuzhou 350001, Fujian Province, China
Yu Zhou, Department of Obstetrics and Gynecology, Fujian Medical University Union Hospital, Fuzhou 350001, Fujian Province, China
Feng Chen, Department of Pediatric Surgery, Fujian Medical University Union Hospital, Fuzhou 350001, Fujian Province, China
Author contributions: Hu J, Chen YH, Fang X, Zhou Y, and Chen F treated the patients; Hu J designed the study, interpreted the data, and wrote the manuscript; Chen YH revised the manuscript for intellectual content; and all authors were involved in the analysis and interpretation of the findings, improved the manuscript, contributed for important intellectual content, and approved the final manuscript.
Supported bythe Research Project of Joint Funds for the Innovation of Science and Technology, Fujian Province, No. 2018Y9029.
Informed consent statement: All study participants, or their legal guardians, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Jun Hu, Doctor, PhD, Assistant Professor, Chief Physician, Department of Pediatrics, Fujian Medical University Union Hospital, No. 29 Xinquan Road, Fuzhou 350001, Fujian Province, China. hujun2252@hotmail.com
Received: July 12, 2021 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
Abstract
BACKGROUND
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.
CASE SUMMARY
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.Arg453ProfsTer42/c.2105G>A, p.Trp702Ter). The absence of collagen VI staining in the younger brother’s muscle was identified accurately. Genetic counseling and prenatal diagnosis were crucial for the family, as the autosomal recessive genetic disease affected a quarter of the patient’s siblings. The fetus of the mother’s third child underwent prenatal diagnosis and carried the same two mutations of COL6A2, confirmed in the amniotic fluid by multiplex ligation-dependent probe amplification and short tandem repeats. After a painful psychological struggle, the parents finally decided to terminate the pregnancy.
CONCLUSION
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.
