The mutation analysis of HOXD13 gene in a pedigree with synpolydactyly
10.3760/cma.j.cn114453-20200716-00429
- VernacularTitle:一个并多指(趾)畸形家系HOXD13基因突变分析
- Author:
Lijuan HUANG
1
;
Zhaoliang LIU
;
Biao WANG
;
Bifang LIN
Author Information
1. 福建医科大学附属第一医院整形外科，福州 350005
- Keywords:
Syndactyly;
Polydactyly;
Genes;
Homeobox D13;
DNA mutational analysis;
Polyalanine
- From:
Chinese Journal of Plastic Surgery
2021;37(9):976-980
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate and analyze the mutation of homeobox D13 (HOXD13) gene in a pedigree with synpolydactyly.Methods:The data of a pedigree with synpolydactyly who were treated by the First Affiliated Hospital of Fujian Medical University in August 2013 were collected. The proband and all members were diagnosed based on clinical manifestations, imaging, and family history. Genomic DNA was extracted from peripheral blood of some members in the pedigree. The HOXD13 gene was identified by polymerase chain reaction (PCR) and DNA sequence analysis.Results:Among the 35 members of this 4-generation family, 12 patients were affected(5 males and 7 females), and the proband was a 20 years old female patient. All the patients had bilateral 3rd and 4th syndactyly with clinodactyly, which could not be extended, and the remaining fingers could move freely. The foot showed unilateral or bilateral 4th and 5th syndactyly with polydactyly in soft tissue web, which was consistent with the typical autosomal dominant synpolydactyly phenotypic characteristics. The analysis of HOXD13 gene in 19 family members (12 normal members and 7 patients) showed that the nucleotide sequences of HOXD13 gene in 12 normal members were normal, and 9 alanine residues were inserted into the polyalanine chain of the first exon 1 of HOXD13 gene in the 7 patients, which extended the alanine residue base from the normal 15 to 24.Conclusions:The pathogenic mutation of HOXD13 gene in this pedigree was the extension mutation of polyalanine chain, which resulted in the typical synpolydactyly.
