TLDR A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
This study identifies a homozygous missense variant (c.266G>A, p.[Arg89His]) in the K25 gene in a consanguineous Pakistani family, causing autosomal recessive woolly hair with hypotrichosis and dental anomalies. Whole-exome and Sanger sequencing confirmed the variant's segregation with the disorder. Affected individuals had tightly curled woolly hair, scant eyebrows, and dental abnormalities, while unaffected members were heterozygous carriers. The variant was absent in major genetic databases and predicted to be pathogenic. This expands the phenotypic spectrum of K25 variants to include dental anomalies, suggesting a role of keratin proteins in tooth development.
13 citations,
April 2018 in “Scientific Reports” The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
27 citations,
November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
13 citations,
April 2018 in “Scientific Reports” The genes KRT25 and SP6 affect curly hair in horses, with KRT25 also causing hair loss. If both genes are mutated, the horse gets curly hair and hair loss. KRT25 can hide the effect of SP6.
4 citations,
June 2021 in “Frontiers in Pharmacology” Bone marrow stem cells and their medium help hair regrowth.
89 citations,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
40 citations,
June 2013 in “Scientific Reports” A gene variant in KRT71 causes the curly fur in Selkirk Rex cats.
4 citations,
January 2019 in “International journal of molecular sciences” Genetically modified sheep with more β-catenin grew more wool without changing the wool's length or thickness.
