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

2003; Springer Nature; Volume: 11; Issue: 8 Linguagem: Inglês

10.1038/sj.ejhg.5201005

1476-5438

Muhammad Rafique, Muhammad Ansar, Syed M. Jamal, Sajid Malik, Muhammad Sohail, Mohammad Faiyaz-Ul-Haque, Sayedul Haque, Suzanne M. Leal, Wasim Ahmad,

RNA regulation and disease

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 (θ=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.