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A splice donor site mutation in HOXD13 underlies synpolydactyly with cortical bone thinning.

Authors: Shi, X  Ji, C  Cao, L  Wu, Y  Shang, Y  Wang, W  Luo, Y 
Citation: Shi X, etal., Gene. 2013 Dec 15;532(2):297-301. doi: 10.1016/j.gene.2013.09.040. Epub 2013 Sep 18.
Pubmed: (View Article at PubMed) PMID:24055421
DOI: Full-text: DOI:10.1016/j.gene.2013.09.040

Synpolydactyly 1(SPD1) is a dominantly inherited distal limb anomaly that is characterized by incomplete digit separation and increased number of digits. SPD1 is most commonly caused by polyalanine repeat expansions and mutations in the homeodomain of the HOXD13. We report a splice donor site mutation in HOXD13 associated in most cases with cortical bone thinning. In vitro study of transcripts and truncated protein analysis indicated that c.781+1G>A mutation results in truncated HOXD13 protein p.G190fsX4. Luciferase assay indicated that the truncated HOXD13 protein failed to bind to DNA. The mechanism for this phenotype was truncated protein loss of function.

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CRRD Object Information
CRRD ID: 11098055
Created: 2016-06-08
Species: All species
Last Modified: 2016-06-08
Status: ACTIVE



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