Journal
GENE
Volume 532, Issue 2, Pages 297-301Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.gene.2013.09.040
Keywords
Homeodomain; Limb malformation; Mutational screening; Syndactyly
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Funding
- National Natural Science Foundation of China [81170543, 81000253]
- Specialized Research Fund for the Doctoral Program of Higher Education of China [20102104120024]
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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. (C) 2013 Elsevier B.V. All rights reserved.
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