A Gene for Universal Congenital Alopecia Maps to Chromosome 8p21-22

Complete or partial congenital absence of hair (congenital alopecia) may occur either in isolation or with associated defects. The majority of families with isolated congenital alopecia has been reported to follow an autosomal-recessive mode of inheritance (MIM 203655). As yet, no gene has been link...

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Bibliographic Details
Published in:American journal of human genetics 1998-02, Vol.62 (2), p.386-390
Main Authors: Nöthen, Markus M., Cichon, Sven, Vogt, Ina R., Hemmer, Susanne, Kruse, Roland, Knapp, Michael, Höller, Tobias, Faiyaz ul Haque, Muhammad, Haque, Sayedul, Propping, Peter, Ahmad, Mahmud, Rietschel, Marcella
Format: Article
Language:English
Subjects:
Alopecia
Alopecia - congenital
Alopecia - genetics
Biological and medical sciences
Chromosome 8
Chromosome Mapping
Chromosomes, Human, Pair 8
Dermatology
Female
Genes, Recessive
Genetic Linkage
Genetic Markers
Hair development
Haplotype analysis
Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue
Humans
Lod Score
Male
Medical sciences
Microsatellite Repeats
Pakistan
Pedigree
Polymorphism, Genetic
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Summary:Complete or partial congenital absence of hair (congenital alopecia) may occur either in isolation or with associated defects. The majority of families with isolated congenital alopecia has been reported to follow an autosomal-recessive mode of inheritance (MIM 203655). As yet, no gene has been linked to isolated congenital alopecia, nor has linkage been established to a specific region of the genome. In an attempt to map the gene for the autosomal recessive form of the disorder, we have performed genetic linkage analysis on a large inbred Pakistani family in which affected persons show complete absence of hair development (universal congenital alopecia). We have analyzed individuals of this family, using >175 microsatellite polymorphic markers of the human genome. A maximum LOD score of 7.90 at a recombination fraction of 0 has been obtained with locus D8S258. Haplotype analysis of recombination events localized the disease to a 15-cM region between marker loci D8S261 and D8S1771. We have thus mapped the gene for this hereditary form of isolated congenital alopecia to a locus on chromosome 8p21-22 ( ALUNC [ alopecia universalis congenitalis]). This will aid future identification of the responsible gene, which will be extremely useful for the understanding of the biochemistry of hair development.
ISSN:0002-9297
1537-6605
DOI:10.1086/301717