Identification of pathogenic mutation in a Chinese pedigree affected with split hand/split foot malformation.
10.3760/cma.j.issn.1003-9406.2018.06.007
- Author:
Zhihong ZHUO
1
,
2
;
Yiwen ZHAI
;
Peina JIN
;
Wenhao YAN
;
Huimin KONG
;
Xiao FANG
;
Fengyan LI
;
Qiang LUO
;
Xiangdong KONG
;
Huaili WANG
Author Information
1. Department of Pediatrics, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net
2. whlek6527@126.com.
- Publication Type:Journal Article
- MeSH:
Asian Continental Ancestry Group;
China;
Chromosome Duplication;
Chromosomes, Human, Pair 10;
genetics;
DNA Copy Number Variations;
Foot Deformities, Congenital;
genetics;
Hand Deformities, Congenital;
genetics;
Humans;
Mutation;
Pedigree;
Polymorphism, Single Nucleotide
- From:
Chinese Journal of Medical Genetics
2018;35(6):808-811
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detect potential mutation in a Chinese pedigree affected with split hand/split foot malformation (SHFM).
METHODS:The patients were screened for genome-wide copy number variations with single nucleotide polymorphism (SNP) microarray. Copy number variations were verified by real-time fluorescence quantitative PCR.
RESULTS:There were 3 SHFM patients from three generations, which conformed to an autosomal dominant inheritance. SNP microarray assay revealed that all patients have carried a 0.34 Mb duplication in 10q24.31-q24.32 (102 993 649-103 333 271) encompassing the BTRC and DPCD genes. The result was verified by real-time fluorescence quantitative PCR, confirming that the duplication has co-segregated with the SHFM phenotype in the pedigree.
CONCLUSION:The 10q24.31-q24.32 duplication probably underlies the pathogenesis of SHFM in this pedigree. Tiny copy number variations can result in diseases featuring autosomal dominant inheritance.
