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A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

ABSTRACT: Hereditary hypotrichosis is a rare autosomal recessive condition characterized clinically by alopecia. Three consanguineous kindreds with multiple affected individuals were ascertained from different regions of Pakistan. A novel hypotrichosis locus was mapped to a 5.5 cM region on chromosome 18q21.1. A maximum two-point LOD score of 5.25 was obtained at marker D18S36 (theta=0.0). Three genes each for desmoglein and desmocollin proteins are located in this region. The expression in epidermal desmosomes and their connection to the keratin intermediate filaments make these genes excellent candidates for recessive hypotrichosis.

SUBMITTER: Rafique MA

PROVIDER: S-EPMC6157268 | biostudies-literature | 2003 Aug

REPOSITORIES: biostudies-literature

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A locus for hereditary hypotrichosis localized to human chromosome 18q21.1.

Rafique Muhammad Arshad MA Ansar Muhammad M Jamal Syed Muhammad SM Malik Sajid S Sohail Muhammad M Faiyaz-Ul-Haque Mohammad M Haque Sayedul S Leal Suzanne M SM Ahmad Wasim W

European journal of human genetics : EJHG 20030801 8

Hereditary hypotrichosis is a rare autosomal recessive condition characterized clinically by alopecia. Three consanguineous kindreds with multiple affected individuals were ascertained from different regions of Pakistan. A novel hypotrichosis locus was mapped to a 5.5 cM region on chromosome 18q21.1. A maximum two-point LOD score of 5.25 was obtained at marker D18S36 (theta=0.0). Three genes each for desmoglein and desmocollin proteins are located in this region. The expression in epidermal desm ...[more]

PMID: 12891384

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