Localization of a novel locus for hereditary nail dysplasia to chromosome 17q25.1-17q25.3

M. A. Rafiq, M. Ansar, T. Pham, M. Amin-ud-din, M. Anwar, S. Haque, M. H. Chahrour, K. Yan, S. M. Leal, Wasim Ahmad

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


We report on a six-generation Pakistani consanguineous family with autosomal recessive transmission of a form of hereditary nail dysplasia. Affected individuals presented with onycholysis of fingernails and anonychia of toenails. Associated abnormalities of ectodermal appendages were not observed in any of the affected individuals. Linkage has been established to chromosome 17q. A maximum multipoint analysis logarithm of the odds ratio score of 4.85 was obtained at marker D17S1301. Due to the consanguineous nature of this kindred, the gene for nail dysplasia is probably contained within a 5.0-cM (3 MB on the sequence-based physical map) region of homozygosity flanked by markers D17S1807 and D17S937.

Original languageEnglish (US)
Pages (from-to)73-78
Number of pages6
JournalClinical Genetics
Issue number1
StatePublished - Jul 2004


  • 17q25.1-17q25.3
  • Autosomal recessive
  • Nail dysplasia
  • Pakistan

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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