Genetic analysis for a child with comorbid X-linked ichthyosis and Duchenne muscular dystrophy.
10.3760/cma.j.cn511374-20210025-00163
- Author:
Chuan ZHANG
1
;
Shengjun HAO
;
Ling HUI
;
Xuan FENG
;
Xue CHEN
;
Xing WANG
;
Lei ZHENG
;
Furong LIU
;
Bingbo ZHOU
;
Qinghua ZHANG
Author Information
1. Medical Genetics Center, Gansu Maternal and Child Health Care Hospital, Lanzhou, Gansu 730050, China. 0929zhangqh@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Dystrophin/genetics*;
Exons;
Gene Deletion;
Genetic Testing;
Humans;
Ichthyosis/genetics*;
Muscular Dystrophy, Duchenne/genetics*;
Mutation
- From:
Chinese Journal of Medical Genetics
2022;39(8):877-880
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out pedigree analysis for a rare child with comorbid X-linked ichthyosis (XLI) and Duchenne muscular dystrophy (DMD).
METHODS:Whole exome sequencing (WES) and multiple ligation-dependent probe amplification (MLPA) were used to detect potential deletions in the STS and DMD genes.
RESULTS:The proband was found to harbor hemizygous deletion of the STS gene and exons 48 to 54 of the DMD gene.
CONCLUSION:The child has comorbid XLI and DMD, which is extremely rare.
