Genetic and Phenotypic analysis of a Family with Van der Hoeve Syndrome Caused by COL1A1 Gene Mutation and Literature Review
10.3969/j.issn.1006-7299.2024.05.001
- VernacularTitle:COL1A1突变致Van der Hoeve综合征家系的遗传和表型分析并文献复习
- Author:
Zequn NIE
1
;
Chufeng HE
;
Hong WU
;
Jie LING
;
Qinhui FU
;
Bo PANG
;
Shuai ZHANG
;
Yongjia CHEN
;
Lingyun MEI
Author Information
1. 中南大学湘雅医院耳鼻咽喉头颈外科耳鼻咽喉重大疾病研究所湖南省重点实验室国家老年疾病临床医学研究中心(湘雅医院)(长沙 410008)
- Keywords:
Van der Hoeve syndrome;
Osteogenesisimperfecta;
COL1A1 gene;
Gene mutation
- From:
Journal of Audiology and Speech Pathology
2024;32(5):389-393
- CountryChina
- Language:Chinese
-
Abstract:
Objective To conduct a detailed clinical phenotypic analysis and gene mutation detection on an au-tosomal dominant Van der Hoeve syndrome family,and to identify the pathogenic gene mutation sites of the family and the impact of the mutation on gene coding.Methods Clinical data including medical history,physical examina-tion and auxiliary examination were collected and peripheral blood samples were collected from the Van der Hoeve syndrome families.Exome sequencing and Sanger sequencing were performed on 22 family members.The data were analyzed using bioinformatics software.Results The family had a total of 5 generations,with each generation expe-riencing consecutive illnesses.Each generation of men and women could suffer from the disease,which conformed to the characteristics of autosomal dominant inheritance.The 12 patients in this family were all born with blue sclera and short stature.8 patients had a history of fractures and could heal normally.3 patients were considering hearing loss caused by Van der Hoeve syndrome.12 patients had a base deletion(c.1128delT)in exon 17 of the COL1A1 gene,causing a change in the amino acid coding after position 376 and ending the amino acid coding prematurely at position 539.10 asymptomatic individuals in this family didn't had this mutation.Conclusion The patient of this family was identified as Van der Hoeve syndrome caused by c.1128 delT mutation.
