Genetic analysis of a child patient with rare fibrochondrogenesis due to COL11A1 gene variant.
10.3760/cma.j.cn511374-20221010-00676
- VernacularTitle:COL11A1基因变异所致罕见纤维软骨增生症患儿1例的遗传学分析
- Author:
Danyang LI
1
;
Chuan ZHANG
;
Bingbo ZHOU
;
Xue CHEN
;
Yupei WANG
;
Ling HUI
Author Information
1. School of Public Health, Gansu University of Traditional Chinese Medicine, Lanzhou, Gansu 730050, China. 1065753301@qq.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Infant;
Abnormalities, Multiple;
Collagen Type XI/genetics*;
Genetic Counseling;
Genomics;
Mutation
- From:
Chinese Journal of Medical Genetics
2023;40(4):468-472
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical data and genetic characteristics of a child with fibrocartilage hyperplasia type 1 (FBCG1).
METHODS:A child who was admitted to Gansu Provincial Maternity and Child Health Care Hospital on January 21, 2021 due to severe pneumonia and suspected congenital genetic metabolic disorder was selected as the study subject. Clinical data of the child was collected, and genomic DNA was extracted from peripheral blood samples from the child and her parents. Whole exome sequencing (WES) was carried out, and candidate variants were verified by Sanger sequencing.
RESULTS:The patient, a 1-month-old girl, had presented with facial dysmorphism, abnormal skeletal development, and clubbing of upper and lower limbs. WES revealed that she has harbored compound heterozygous variants c.3358G>A/c.2295+1G>A of the COL11A1 gene, which has been associated with fibrochondrogenesis. Sanger sequencing has verified that the variants have been respectively inherited from her father and mother, both of whom were phenotypically normal. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.3358G>A variant was graded as likely pathogenic (PM1+PM2_Supporting+PM3+PP3), and so was the c.2295+1G>A variant (PVS1＋PM2_Supporting).
CONCLUSION:The compound heterozygous variants c.3358G>A/c.2295+1G>A probably underlay the disease in this child. Above finding has facilitated definite diagnosis, genetic counseling for her family.
