A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33

Kathrin A. Giehl, Gertrud N. Eckstein, Anna Benet-Pagès, Antonella Tosti, David A.R. De Berker, Thomas Meitinger, Bertram Müller-Myhsok, Tim M. Strom

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17 Scopus citations


Pili annulati, a rare hair shaft abnormality with a characteristic shiny appearance due to alternating light and dark bands of the hair, is assumed to be inherited in an autosomal dominant mode with high penetrance. A locus for pili annulati has not been found yet. We identified one large and four small European kindreds with pili annulati and conducted a genomewide linkage analysis using 382 microsatellite markers. A multipoint logarithm of the odds (LOD) score of 3.19 was demonstrated between D12S1659 and D12S1723 on the telomeric part of the long arm of chromosome 12. Subsequent finemapping in a region of 20 cM gave a maximum multipoint LOD score of 3.24 at D12S1723 under the assumption of homogeneity and a LOD score of 3.57 around D12S343 under the assumption of heterogeneity, both exceed the statistical thresholds necessary to conclude linkage. Most of this LOD score came from the largest family, which reached a maximum LOD score of 3.81. The maximum two-point LOD score for all families was 3.97 at D12S1609. Definite recombination events narrowed the region of shared haplotype in the affected individuals to an 8 Mb region between the marker D12S324 and the telomeric end of the long arm of chromosome 12.

Original languageEnglish
Pages (from-to)1073-1077
Number of pages5
JournalJournal of Investigative Dermatology
Issue number6
StatePublished - Dec 2004
Externally publishedYes


  • Chromosome 12q24
  • Genodermatosis
  • Hair shaft abnormality
  • Linkage
  • Pili annulati


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