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Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genes

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Abstract

Postaxial Polydactyly (PAP) is characterized by fifth digit duplication in hands and/or feet. Two types of PAP including PAP-A, representing the development of well-formed extra digit, and PAP-B, representing the presence of rudimentary fifth digit, have been described. Both isolated and syndromic forms of PAP have been reported. Isolated forms of PAP usually segregate as an autosomal dominant trait and to date four loci have been identified. In the present study, we have described mapping of the first locus of autosomal recessive PAP type A on chromosome 13q13.3–13q21.2 in a consanguineous Pakistani family. Using polymorphic microsatellite markers, the disease locus was mapped to a 17.87-cM (21.13 Mb) region flanked by markers D13S1288 and D13S632, on chromosome 13q13.3–13q21.2. A maximum multipoint LOD score of 3.84 was obtained with several markers along the disease interval. DNA sequence analysis of exons and splice-junction sites of ten candidate genes (CHM-I, TSC22D1, FOXO1, DIAPH3, CCDC122, CKAP2, SUGT1, RANKL, LPAR6, C13ORF31) did not reveal potentially causal variants.

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Acknowledgments

We wish to thank the family members for their invaluable participation and cooperation. This work was funded by the Higher Education Commission (HEC), Islamabad, Pakistan. Umm-e-Kalsoom was supported by an indigenous PhD fellowship from HEC, Islamabad, Pakistan.

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We declare that we have no conflict of interest.

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Authors and Affiliations

  1. Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan

    Umm-e-Kalsoom, Sulman Basit, Syed Kamran-ul-Hassan Naqvi, Muhammad Ansar & Wasim Ahmad

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  1. Umm-e-Kalsoom
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  2. Sulman Basit
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  3. Syed Kamran-ul-Hassan Naqvi
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  4. Muhammad Ansar
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  5. Wasim Ahmad
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Correspondence to Wasim Ahmad.

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Umm-e-Kalsoom, Basit, S., Kamran-ul-Hassan Naqvi, S. et al. Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3–q21.2 and screening of the candidate genes. Hum Genet 131, 415–422 (2012). https://doi.org/10.1007/s00439-011-1085-7

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