[Genetic analysis of a Chinese pedigree affected with congenital split-hand/foot malformation]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Dec 10;38(12):1208-1210. doi: 10.3760/cma.j.cn511374-20200914-00668.
[Article in Chinese]

Abstract

Objective: To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft.

Methods: Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation.

Results: SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes.

Conclusion: Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.

MeSH terms

  • China
  • DNA Copy Number Variations / genetics
  • Foot Deformities, Congenital* / genetics
  • Hand Deformities, Congenital* / genetics
  • Humans
  • Pedigree