TLDR Mutations in the hairless gene cause a rare form of permanent hair loss.
The study investigated congenital atrichia with papular lesions (APL), a rare form of irreversible alopecia, in four consanguineous families. APL is characterized by hair loss shortly after birth and the development of keratin-filled cysts on the body, following an autosomal recessive inheritance pattern. The research identified that all four families had mutations in the human hairless (HR) gene located on chromosome 8p21.1. Specifically, three novel mutations were discovered: two nonsense mutations (p.Cys690X, p.Arg819X) and one missense mutation (p.Pro1157Arg). These findings contributed to the understanding of the genetic basis of APL.
181 citations
,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
30 citations
,
January 2009 in “Nuclear Receptor Signaling” Hairless protein is crucial for healthy skin and hair, and its malfunction can cause hair loss.
210 citations
,
February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
194 citations
,
November 2006 in “Science” A genetic mutation in the LIPH gene causes hair loss and growth defects.
137 citations
,
September 2005 in “Proceedings of the National Academy of Sciences of the United States of America” The HR protein helps hair grow by blocking a hair growth inhibitor, aiding in hair follicle regeneration.
215 citations
,
September 2003 in “Journal of Biological Chemistry” Vitamin D receptor and hairless protein are essential for hair growth.
412 citations
,
January 1998 in “Science” A mutation in the human hairless gene causes alopecia universalis.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
181 citations
,
January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
