Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
May 2019
in “
PLOS genetics
”
Studysummary This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
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Researchers identified a child with compound heterozygous mutations in the HEPHL1 gene, presenting with abnormal hair and cognitive dysfunction. The maternal mutation caused an in-frame deletion of 85 amino acids, while the paternal mutation altered a conserved methionine in a copper binding site. These mutations led to a loss of HEPHL1's ferroxidase activity, resulting in intracellular iron accumulation and reduced lysyl oxidase activity in the patient's fibroblasts. A Hephl1 knockout mouse model exhibited similar hair abnormalities, supporting the role of HEPHL1 in hair growth and implicating its ferroxidase activity in hair disorders.
