Eight-alanine duplication in homeobox D13 in a Chinese family with synpolydactyly.

Abstract

Human synpolydactyly (SPD), belonging to syndactyly (SD) II, is an inherited autosomal-dominant limb malformation characterized by SD of finger 3 or 4 or toe 4 or 5, usually with digit duplication. Previous studies have demonstrated that homeobox protein D13 (HOXD13) is responsible for this Mendelian disorder. In this paper, we report on a family with SPD - 7 members show typical SPD malformations. We used PCR and Sanger sequencing of DNA from peripheral blood samples and found an 8-Ala expansion in exon 1 of HOXD13 by mutation detection; this variant was absent in unaffected members and in 50 unaffected non-related subjects. This study further confirmed the correlation between SPD and alanine expansion in HOXD13.

• Authors: Qian Xin, Lin Li, Jiangxia Li, Rongfang Qiu, Chenhong Guo, Yaoqin Gong, Qiji Liu
• Journal: Gene (Gene) Vol. 499 Issue 1 Pg. 48-51 (May 10 2012) ISSN: 1879-0038 [Electronic] Netherlands
• PMID: 22406499 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2012 Elsevier B.V. All rights reserved.

Chemical References

• HOXD13 protein, human
• Homeodomain Proteins
• Transcription Factors
• Alanine

Topics

• Adult
• Alanine (genetics)
• Asian People (genetics)
• Child, Preschool
• DNA Mutational Analysis
• Family
• Female
• Genes, Homeobox (genetics)
• Genetic Association Studies
• Homeodomain Proteins (genetics)
• Humans
• Infant
• Male
• Middle Aged
• Pedigree
• Syndactyly (genetics)
• Transcription Factors (genetics)
• Trinucleotide Repeat Expansion (genetics)