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

Paul A. van der Zwaag, Trijnie Dijkhuizen, Klasientje Gerssen - Schoorl, Anja W. Colijn, Paul M. A. Broens, Boudien Flapper, Conny M. A. van Ravenswaaij-Arts*

*Corresponding author for this work

    Research output: Contribution to journalArticleAcademicpeer-review

    14 Citations (Scopus)

    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. © 2009 Elsevier Masson SAS. All rights reserved.
    Original languageEnglish
    Pages (from-to)45-49
    Number of pages5
    JournalEuropean journal of medical genetics
    Volume53
    Issue number1
    DOIs
    Publication statusPublished - 2010

    Keywords

    • Duplication 13q31q32
    • Postaxial polydactyly
    • Array-CGH
    • GOLABI-BEHMEL-SYNDROME
    • AUTOSOMAL SEX REVERSAL
    • GLYPICAN GENE FAMILY
    • SRY-RELATED GENE
    • CAMPOMELIC DYSPLASIA
    • TRANSLOCATION
    • MUTATIONS
    • 13Q
    • OVERGROWTH
    • PHENOTYPE

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