A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype With Woolly Hair and Dental Anomalies
January 2023
in “
The journal of investigative dermatology/Journal of investigative dermatology
”
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.
