An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2

Abstract Postaxial polydactyly type A2 (PAP-A2; OMIM 602085) is a common feature seen in patients with a partial duplication of the long arm of chromosome 13. Dose dependency has been shown for digital malformations in this region, deletions resulting in oligodactyly and duplications in polydactyly....

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Bibliographic Details
Published in:European journal of medical genetics 2010-01, Vol.53 (1), p.45-49
Main Authors: van der Zwaag, Paul A, Dijkhuizen, Trijnie, Gerssen-Schoorl, Klasien B.J, Colijn, Anja W, Broens, Paul M.A, Flapper, Boudien C.T, van Ravenswaaij-Arts, Conny M.A
Format: Article
Language:English
Subjects:
Array-CGH
Child, Preschool
Chromosome Painting
Chromosomes, Human, Pair 13
Comparative Genomic Hybridization
Duplication 13q31q32
Fingers - abnormalities
Gene Duplication
Glypicans - genetics
Humans
Male
Medical Education
Oligonucleotide Array Sequence Analysis
Polydactyly - genetics
Postaxial polydactyly
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Summary:Abstract Postaxial polydactyly type A2 (PAP-A2; OMIM 602085) is a common feature seen in patients with a partial duplication of the long arm of chromosome 13. Dose dependency has been shown for digital malformations in this region, deletions resulting in oligodactyly and duplications in polydactyly. We aimed to narrow down the critical region for PAP-A2 in order to identify candidate genes. We performed chromosomal analysis, FISH and array-CGH in a patient with an interstitial duplication of chromosome 13q31.3q32.1 and a mild phenotype including postaxial polydactyly. The duplicated region spanned 5.59 Mb (89.67–95.25 Mb) and contained eleven known genes, including GPC5 and GPC6. GPC5 and GPC6 show homology with GPC3 and GPC4 , genes involved in Simpson-Golabi-Behmel syndrome, an overgrowth syndrome in which also polydactyly can occur. Mouse studies have shown expression of both GPC5 and GPC6 in developing limbs. Therefore, we propose that GPC5 and GPC6 are the most likely candidate genes for PAP-A2.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2009.11.003