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

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 Mendelia...

Full description

Saved in:
Bibliographic Details
Published in:Gene 2012-05, Vol.499 (1), p.48-51
Main Authors: Xin, Qian, Li, Lin, Li, Jiangxia, Qiu, Rongfang, Guo, Chenhong, Gong, Yaoqin, Liu, Qiji
Format: Article
Language:English
Subjects:
abnormal development
Adult
alanine
Alanine - genetics
Asian Continental Ancestry Group - genetics
blood
Child, Preschool
DNA Mutational Analysis
exons
Family
Female
Genes, Homeobox - genetics
Genetic Association Studies
homeodomain proteins
Homeodomain Proteins - genetics
HOXD13
Humans
Infant
Male
Middle Aged
mutation
Pedigree
Polyalanine expansion mutation
polymerase chain reaction
sequence analysis
Syndactyly - genetics
Synpolydactyly
Transcription Factors - genetics
Trinucleotide Repeat Expansion - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. ► Confirmed HOXD13 mutation and synpolydactyly. ► Found an eight-alanine expansion in HOXD13. ► This mutation leads to obviously variable expressivities.
ISSN:0378-1119
1879-0038
DOI:10.1016/j.gene.2012.02.046