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,

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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 Journal of Investigative Dermatology Volume 123, Issue 6, Pages 1073-1077 (December 2004) DOI: 10.1111/j.0022-202X.2004.23423.x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical and light microscopic feature of pili annulati. (a) Gross examination of scalp hair of a 30-year-old affected female from family 3 with typical speckled shiny appearance. (b) The dark bands seen by light microscopy correspond to the bright bands seen by gross examination. They are due to air-filled cavities within the cortex. Journal of Investigative Dermatology 2004 123, 1073-1077DOI: (10.1111/j.0022-202X.2004.23423.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Multipoint linkage analysis of 35 cM of the telomeric end of the long arm of chromosome 12. The analysis was performed with ALLEGRO (q=0.0001, f1=0.003, f2=f3=0.95). The analysis includes affected and unaffected family members. Family 1 was divided into two parts in order to fit the number of bits to the requirements of ALLEGRO. Depicted are summary LOD scores allowing for heterogeneity, and assuming homogeneity (black lines) and LOD scores for single pedigrees (gray lines). Journal of Investigative Dermatology 2004 123, 1073-1077DOI: (10.1111/j.0022-202X.2004.23423.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Haplotype analysis of the chromosome 12q24 region. Allele data for 13 markers in this region are shown for pedigree 1. The affected individuals with recombination events that narrow the shared haplotype to the distal part of the long arm of chromosome 12 are indicated by arrows. Roman numerals indicate how the pedigree was divided for the multipoint linkage analysis. Open symbols indicate unaffected, blackened symbols affected individuals, and gray symbols individuals of unknown status. Inferred genotypes are given in parentheses. Journal of Investigative Dermatology 2004 123, 1073-1077DOI: (10.1111/j.0022-202X.2004.23423.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions