Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation

Mahmood Rasool, Sadia Nawaz, Aysha Azhar, Muhammad Wajid, Per Westermark, Shahid M. Baig, Joakim Klar, Niklas Dahl

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

Hair-nail ectodermal dysplasia (HNED; OMIM 602032) constitutes a rare subgroup of ectodermal dysplasias characterised by onychodystrophy, hypotrichosis and brittle hair. We identified a large consanguineous Pakistani family with four siblings affected by a congenital autosomal recessive form of the disease. Based on previous genetic findings in HNED we performed linkage analysis in the family using chromosome 12 markers. A genetic linkage analysis revealed a lod score of 2.92 (⊖ = 0.0) at locus D12S368, indicating the disease gene to be located on chromosome 12. Candidate genes on chromosome 12, including the KRTHB5 gene and four additional keratin II genes, were sequenced in affected family members. Sequence analysis of the coding regions of keratin KRTHB5 gene, previously associated with a distinct clinical form of hair-nail dysplasia, revealed normal coding regions. Our study confirms linkage of a variant clinical form of hair-nail ectodermal dysplasia to chromosome 12 without any mutation in the coding sequences of the KRTHB5 gene. The results suggest this family to have either a non-coding mutation in the KRTHB5 gene, or a mutation in a yet unknown gene within the linked region on chromosome 12.

Original languageEnglish
Pages (from-to)443-446
Number of pages4
JournalEuropean Journal of Dermatology
Volume20
Issue number4
DOIs
Publication statusPublished - Jul 2010
Externally publishedYes

Keywords

  • Autosomal recessive
  • Chromosome 12
  • Hair nail ectodermal dysplasia
  • KRTHB5 gene
  • Linkage analysis

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