Ontology highlight
ABSTRACT:
SUBMITTER: Higgins CA
PROVIDER: S-EPMC4115575 | biostudies-literature | 2014 Jul
REPOSITORIES: biostudies-literature
Higgins Claire A CA Petukhova Lynn L Harel Sivan S Ho Yuan Y YY Drill Esther E Shapiro Lawrence L Wajid Muhammad M Christiano Angela M AM
Proceedings of the National Academy of Sciences of the United States of America 20140702 29
Mechanisms that regulate the growth of eyelashes have remained obscure. We ascertained two families from Pakistan who presented with familial trichomegaly, or extreme eyelash growth. Using a combination of whole exome sequencing and homozygosity mapping, we identified distinct pathogenic mutations within fibroblast growth factor 5 (FGF5) that underlie the disorder. Subsequent sequencing of this gene in several additional trichomegaly families identified an additional mutation in FGF5. We further ...[more]