Abstract
Postaxial polydactyly (PAP) is the occurrence of one or more extra ulnar or fibular digits or parts of it. In PAP-A, the extra digit is fully developed and articulates with the fifth or an additional metacarpal/metatarsal, while it is rudimentary in PAP-B. Isolated PAP usually segregates as an autosomal dominant trait, with variable expression. Three loci are known for PAP in humans. PAPA1 (including PAP-A/B in one patient) on 7p13 caused by mutations in the GLI3 gene, PAPA2 on 13q21–q32 in a Turkish kindred with PAP-A only, and a third one (PAPA3) in a Chinese family with PAP-A/B on 19p13.1–13.2. We identified a fourth locus in a large Dutch six-generation family with 31 individuals including 11 affecteds. Their phenotype varied from either PAP-A, or PAP-B to PAP-A/B with or without the co-occurence of partial cutaneous syndactyly. We performed a whole-genome search and found linkage between PAP and markers on chromosome 7q. The highest LOD score was 3.34 obtained at D7S1799 and D7S500 with multipoint analysis.
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Acknowledgements
We acknowledge the family for their cooperation, R Koppenol for his work on the illustrations. We also acknowledge the Foundation of Clinical Genetics Rotterdam for their financial support.
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Galjaard, RJ., Smits, A., Tuerlings, J. et al. A new locus for postaxial polydactyly type A/B on chromosome 7q21–q34. Eur J Hum Genet 11, 409–415 (2003). https://doi.org/10.1038/sj.ejhg.5200982
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DOI: https://doi.org/10.1038/sj.ejhg.5200982
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