Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis.
10.3760/cma.j.issn.1003-9406.2020.04.028
- Author:
Dong WU
1
;
Mengting ZHANG
;
Yue GAO
;
Xiaodong HUO
;
Hai XIAO
;
Qian ZHANG
;
Bing KANG
;
Xin WANG
;
Shixiu LIAO
Author Information
1. Henan Provincial People's Hospital, Medical Genetic Institute of Henan Province, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China. ychslshx@126.com.
- Publication Type:Case Reports
- MeSH:
Aortic Stenosis, Supravalvular;
genetics;
Child;
Chromosome Banding;
Chromosomes, Human, Pair 7;
genetics;
Comparative Genomic Hybridization;
Gene Deletion;
Genetic Testing;
Humans;
Williams Syndrome;
complications;
genetics
- From:
Chinese Journal of Medical Genetics
2020;37(4):475-478
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with supravalvular aortic stenosis.
METHODS:The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) analysis.
RESULTS:No karyotypic abnormality was detected in the child and his parents. aCGH has identified a de novo 278 kb deletion encompassing the ELN gene in 7q11.23, which overlapped with the critical region of Williams-Beuren syndrome (WBS). MLPA has confirmed above findings.
CONCLUSION:The proband was diagnosed with atypical WBS. Deletion of the ELN gene may predispose to supravalvular aortic stenosis in the proband.
