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Roland Kruse, Sven Cichon, Martina Anker, Axel M

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Presentation on theme: "Roland Kruse, Sven Cichon, Martina Anker, Axel M"— Presentation transcript:

1 Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia 
Roland Kruse, Sven Cichon, Martina Anker, Axel M. Hillmer, Patricio Barros-Núñez, Jose Maria Cantú, Evelia Leal, Georg Weinlich, Mathias Schmuth, Peter Fritsch, Thomas Ruzicka, Peter Propping, Markus M. Nöthen  Journal of Investigative Dermatology  Volume 113, Issue 6, Pages (December 1999) DOI: /j x Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Pedigrees of the Mexican and South Tyrolian families. (A) Mexican; (B) South Tyrolian; □, males; ○, females; the symbols for numerous unaffected offspring are collapsed. Blackened symbols indicate affected individuals. Individuals denoted by a cross (+) have donated DNA samples. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Biopsy of a papular lesion from the right shoulder of patient II:3. Patient II:3 from the South Tyrolian family (hematoxylin and eosin stain): within a hair follicle remnant a dermal cyst filled with keratinous material in concentrical layers is shown; epidermis and dermis appear normal (scale bar: 0.1 mm). Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Identification of HR gene mutations. (a) Sequence analysis of exon 7 of the HR gene in affected individual V:13 from the Mexican family with autosomal recessive papular atrichia and a control person. V:13 shows a homozygous deletion of nt 2001–2004 leading to a frameshift and a premature stop codon at aa 671. (b) Sequence analysis of exon 14 of the HR gene in affected individual II:3 from the South Tyrolian family with autosomal recessive papular atrichia and a control person. The A to G transition at nt position 2909 results in an Asp970Ser substitution. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 Confirmation and segregation analysis of HR gene mutations and polymorphisms. In the Mexican family (a), the disease status cosegregates with presence of a homozygous deletion in exon 7 (2001delCCAG). Affected individuals V:1, V:11, V:12, V:13, and V:15 are homozygous for a 110 bp band containing the deletion. All other individuals are unaffected heterozygous carriers of the deletion and display a 114 bp band (wild-type allele) and a 110 bp band. In addition, they display slower migrating heteroduplex bands. In the South Tyrolian family, segregation of three missense substitutions is detected by RFLP-assays: (b) The T→C transition at nt position 1577 in exon 5 abolishes an AluI site. A 462 bp PCR product is cut into two constant fragments of 224 and 82 bp length and polymorphic fragments of either 156 bp or 121 bp and 35 bp length (35 bp band not shown here). In the unaffected individuals II:1 and II:5, the constant fragments and a 121 bp band is seen, representative of homozygosity for the 1577T allele. I:1, I:2, and II:6 display a 156 bp and 121 bp band, indicative of heterozygosity for 1577T/C alleles. The two affected individuals (II:3 and II:4) display only the 156 bp band besides the constant fragments, representative of homozygosity for the 1577C allele. (c) The A→G transition at nt position 2909 in exon 14 creates a new restriction site for DdeI. A 379 bp PCR product is cut into two fragments of 259 and 120 bp if 2909G is present. All unaffected individuals display an undigested 379 bp band (II:1 and II:5), indicative of homozygosity for the 2909 A allele or three bands of 379, 259, and 120 bp length (I:1, I:2, and II:6), representative of heterozygosity for 2909 A/G alleles. Affected individuals II:3 and II:4 exhibit the 259 bp and 120 bp bands only. They are homozygous for the 2909G allele. (d) The A→G transition at nt position 3064 in exon 15 creates a new site for HgaI. Homozygosity for the 3064A alleles is indicated by the presence of a single 299 bp band, representing the undigested PCR product (unaffected individuals II:1 and II:5). Heterozygous individuals for 3064 A/G alleles (unaffected individuals I:1, I:2, and II:6) display three bands of 299, 179, and 120 bp length. The two affected individuals II:3 and II:4 exhibit two fragments of 179 and 120 bp length, indicative of homozygosity for 3064G alleles. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 1999 The Society for Investigative Dermatology, Inc Terms and Conditions

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