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Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly.

Authors: Dai, Li  Heng, Zheng-chang  Zhu, Jun  Cai, Ren  Mao, Meng  Wang, He  Lin, Mo-ju 
Citation: Dai L, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Jun;22(3):277-80.
Pubmed: (View Article at PubMed) PMID:15952114

OBJECTIVE: To study the clinical features and to identify homeobox D13 (HOXD13) gene mutation of the affected individuals in a Chinese synpolydactyly (SPD) kindred.
METHODS: Clinical data and peripheral blood samples of SPD family members were obtained through field investigation. For every member of this pedigree├Čthe fragment containing mutational hot spots of HOXD13 was amplified by PCR for mutation screening. To examine whether there is any other mutation within coding sequence of HOXD13, exon 1 and exon 2 of HOXD13 were also amplified by PCR. All the amplified fragments were electrophoresed on 2% agarose gels and then the mutant fragments were electrophoresed on 5% polyacrylamide gels to be separated. Purified PCR products of normal and selected mutant alleles were directly sequenced.
RESULTS: Comparing the HOXD13 coding sequence of the affected individuals with HOXD13 sequence in the GenBank and with that of the unaffected, an inserted segment coding 8 alanine residues within HOXD13 was found segregating with the disorder. This mutation is also termed polyalanine expansion. The 8-alanine expansion can be interpreted as a reduplication of normal alanines 5-12.
CONCLUSION: The results suggest that synpolydactyly in this kindred may be caused by polyalanine expansion in HOXD13.


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CRRD Object Information
CRRD ID: 12738375
Created: 2017-02-02
Species: All species
Last Modified: 2017-02-02
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.