Analysis of ELN gene mutation in a pedigree affected with cutis laxa.
10.3760/cma.j.issn.1003-9406.2019.08.008
- Author:
Hai XIAO
1
;
Zhaojing ZHANG
;
Xue LYU
;
Tao LI
;
Qiannan GUO
;
Hongdan WANG
;
Qian ZHANG
;
Junxiang SU
;
Shixiu LIAO
Author Information
1. Medical Genetics Institute of Henan Province, Henan Provincial People' s Hospital, Zhengzhou, Henan 450003, China. regalyang@163.com.
- Publication Type:Journal Article
- MeSH:
Cutis Laxa;
genetics;
Elastin;
genetics;
Heterozygote;
High-Throughput Nucleotide Sequencing;
Humans;
Mutation;
Pedigree
- From:
Chinese Journal of Medical Genetics
2019;36(8):785-788
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out genetic diagnosis for a pedigree affected with cutis laxa.
METHODS:Genomic DNA was extracted from peripheral blood samples from members of the pedigree and 50 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and verified by Sanger sequencing.
RESULTS:A heterozygous c.1985delG mutation was identified in the ELN gene among all patients from this pedigree. The same mutation was not found among unaffected family members and 50 healthy controls.
CONCLUSION:The genetic etiology for the pedigree has been elucidated, which has enabled genetic counseling and guidance for reproduction.
