Genetic analysis and clinical phenotype of a family with bilateral concha-type microtia
10.3760/cma.j.cn114453-20231102-00182
- VernacularTitle:一个双侧耳甲腔型小耳畸形家系遗传学及临床表型分析
- Author:
Huili QIAN
1
;
Linan ZHANG
;
Yang JIA
;
Xiuying HOU
;
Baolin ZHANG
Author Information
1. 山西医科大学第一医院整形科，太原 030001
- Keywords:
Congenital microtia;
Concha-type;
Whole genome sequencing;
Evolutionarily conserved region;
HMX1 gene;
Copy number variation;
Enhancer
- From:
Chinese Journal of Plastic Surgery
2024;40(2):163-168
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To detect pathogenic mutation in a Chinese family affected with isolated bilateral microtia.Methods:During 2022 June to December, one Chinese Han family with non-syndromic bilateral microtia was recruited at the First Hospital of Shanxi Medical University. The clinical data and peripheral blood samples were collected from the family members. Whole genome sequencing (WGS) was performed in the proband to screen all candidate variants. Quantitative PCR was applied to identify the candidate copy number variation (CNV) among the proband, the unaffected wife and the affected son to demonstrate the association between candidate variant and phenotype.Results:The patients in the family had non-syndromic bilateral concha-type microtia. WGS detected the duplication in the intergenic region of HMX1 and CPZ gene in the proband, which involved the evolutionarily conserved region (ECR). Both the proband and his affected son carried the CNV, while his unaffected wife did not have this variation.Conclusion:Duplications involving the long range HMX1 enhancer ECR are associated with the bilateral concha-type microtia in this family.
