Genes · 2025
Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant.
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Phillippi Elizabeth, Melo Marcelo, Messingham Kelly N, El-Shanti Hatem
Аннотация
BACKGROUND: Loose anagen hair syndrome is a recently described genetic form of non-scarring alopecia that occurs in children and is due to poorly anchored hair shafts during the anagen phase. It can occur alone or in association with hair pathology or complex systemic phenotypes.
METHODS: We report a mother and daughter with loose anagen hair syndrome that is associated with wooly hair, although it shows variable expressivity. We studied the family using genomic sequencing and identified an intronic variant in their KRT71 that segregates in an autosomal dominant pattern and is suspected to affect splicing in the tail domain of this hair follicle keratin. We studied this variant with a minigene experimental approach.
RESULTS: We provide experimental evidence that the identified intronic variant affects splicing in the tail domain, which is critical to the biomechanical properties of the keratin intermediate filaments. We demonstrate that it affects splicing by adding 12 bases to the mature transcript and consequently four amino acids to the peptide.
CONCLUSION: We suspect that this variant is responsible for the poorly anchored and finely curled hair in the mother and daughter, which leads to a proposed diagnosis of autosomal dominant wooly hair, as well as loose anagen hair syndrome. We thus expand the variant spectrum of KRT71 and its associated phenotypes to include both disorders.
METHODS: We report a mother and daughter with loose anagen hair syndrome that is associated with wooly hair, although it shows variable expressivity. We studied the family using genomic sequencing and identified an intronic variant in their KRT71 that segregates in an autosomal dominant pattern and is suspected to affect splicing in the tail domain of this hair follicle keratin. We studied this variant with a minigene experimental approach.
RESULTS: We provide experimental evidence that the identified intronic variant affects splicing in the tail domain, which is critical to the biomechanical properties of the keratin intermediate filaments. We demonstrate that it affects splicing by adding 12 bases to the mature transcript and consequently four amino acids to the peptide.
CONCLUSION: We suspect that this variant is responsible for the poorly anchored and finely curled hair in the mother and daughter, which leads to a proposed diagnosis of autosomal dominant wooly hair, as well as loose anagen hair syndrome. We thus expand the variant spectrum of KRT71 and its associated phenotypes to include both disorders.