Identification of a pathogenic microduplication in a Chinese split-hand/split-foot malformation family.
10.3760/cma.j.issn.1003-9406.2014.03.004
- VernacularTitle:一个Ⅲ型手足裂畸形家系拷贝数变异的研究
- Author:
Yaping LIU
1
;
Yingzhi HUANG
;
Wei YANG
;
Xue ZHANG
Author Information
1. Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing 100005, P. R. China. Email: weiyang@ibms.pumc.edu.cn.
- Publication Type:Journal Article
- MeSH:
Adolescent;
Adult;
Asian Continental Ancestry Group;
genetics;
China;
Chromosome Duplication;
Chromosomes, Human, Pair 10;
genetics;
DNA Copy Number Variations;
Foot Deformities, Congenital;
genetics;
Hand Deformities, Congenital;
genetics;
Humans;
Male;
Middle Aged;
Pedigree;
Young Adult
- From:
Chinese Journal of Medical Genetics
2014;31(3):276-279
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE To identify the potential pathogenic mutation in a Chinese family with split hand/foot malformation (SHFM). METHODS Affymetrix SNP 6.0 array was used to perform a genome-wide copy number variations scan, and quantitative real-time PCR (qPCR) was applied to validate the identified genomic duplication. RESULTS A ~560 kb microduplication on the chromosome 10q24 was identified. The qPCR assay confirmed the presence of this microduplication in all the available affected family members. CONCLUSION The ~560 kb microduplication is probably the pathogenic mutation underlying the SHFM phenotype in the studied family.
