Genetic analysis of a pedigree affected with congenital split-hand/foot malformation.
10.3760/cma.j.issn.1003-9406.2020.04.026
- Author:
Qian LI
1
;
Ming TONG
;
Canming CHEN
;
Yaping JI
;
Kai ZHOU
;
Guijiang XU
;
Suwei HU
Author Information
1. Medical Genetics Center, Yangzhou Maternal and Child Health Care Hospital, the Affiliated Hospital of Yangzhou University Medical College, Yangzhou, Jiangsu 225002, China. husuwei2004@126.com.
- Publication Type:Case Reports
- MeSH:
Asian Continental Ancestry Group;
Chromosome Duplication;
Chromosomes, Human, Pair 10;
genetics;
DNA Copy Number Variations;
Foot Deformities, Congenital;
genetics;
Genetic Testing;
Hand Deformities, Congenital;
genetics;
Humans;
Limb Deformities, Congenital;
genetics;
Pedigree
- From:
Chinese Journal of Medical Genetics
2020;37(4):467-470
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a Chinese pedigree affected with split hand/foot malformation (SHFM).
METHODS:Genomic DNA of the proband and other affected members was extracted from peripheral blood samples. Chromosomal microarray analysis was employed to detect genome-wide copy number variations (CNVs).
RESULTS:A 400 kb microduplication was identified in the 10q24.31-q24.32 region among all affected individuals. The microduplication has involved four genes, namely LBX1, BTRC, POLL and DPCD, in addition with part of FBXW4 gene.
CONCLUSION:The 10q24.31-q24.32 microduplication has segregated with the disease phenotype in this pedigree and probably underlay the SHFM malformation in the patients.
