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A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33–q27.3
  1. M Aslam1,
  2. M H Chahrour2,
  3. A Razzaq1,
  4. S Haque1,
  5. K Yan2,
  6. S M Leal2,
  7. W Ahmad1
  1. 1Department of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan
  2. 2Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
  1. Correspondence to:
 Dr Wasim Ahmad
 Department of Biological Sciences, Quaid-I-Azam University Islamabad, Pakistan;

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Genetic conditions affecting hair structure or the hair growth cycle may be isolated or they may occur as part of complex syndromes with associated abnormalities of other ectodermal appendages. Defective hair structure caused by mutations in key hair structural proteins can result in severe alopecia. The best characterised conditions at the molecular level in this category are monilethrix1 (MIM 158000) and Netherton syndrome2,3 (MIM 256500). Monilethrix is an autosomal dominant disorder in which alopecia is the presenting manifestation; however, the degree of alopecia is variable between patients and during different time periods for the same individual. Causative mutations have been identified in the keratin hair basic 6 gene (HB6, MIM 601928) and the keratin hair basic 1 gene (HB1, MIM 602153).4 Netherton syndrome is a rare autosomal recessive condition characterised by “bamboo hair” (trichorrhexis invaginata), congenital ichthyosiform erythroderma, and atopic diathesis. Serine protease inhibitor, Kazal-type 5 gene (SPINK5, MIM 605010), located on chromosome 5q31–q32, encodes a 15 domain serine protease inhibitor and is mutated in Netherton syndrome.3 Structural hair shaft defects are also a feature of Menkes kinky hair syndrome (MIM 309400). Menkes disease,5 with X linked inheritance, is caused by mutations in the gene encoding Cu2+ transporting ATPase, ATP7A (MIM 300011).6

Isolated forms of alopecia include congenital atrichia and different forms of hypotrichosis, which may represent a dysregulation of the hair growth cycle and remodelling.7

Autosomal recessive congenital atrichia (MIM 203655) is the most extreme example of hair loss. In affected individuals with this form of alopecia, hair is typically absent from the scalp with shedding shortly after birth. Congenital atrichia has been linked to 8p21, where several mutations of the hairless gene (HR, MIM 602302) have been reported as the underlying cause of congenital atrichia.8,9

Marie Unna …

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  • Conflicts of interest: none declared.