Novel Small-Insertion Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis

    September 2020 in “ Journal of dermatology ”
    Hongli Lv, Ming Li, Ruhong Cheng
    Studysummary This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
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    Research cited in this study 7

    1. Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review The Journal of Dermatology · 2018
    2. A Missense Mutation Within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis Journal of Investigative Dermatology · 2017
    3. Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation British journal of dermatology/British journal of dermatology, Supplement · 2016
    4. Homozygous Missense Mutation in the LIPH Gene Causing Autosomal Recessive Hypotrichosis Simplex in a Chinese Patient Journal of dermatology · 2013
    5. Identification of 736T>A Mutation of Lipase H in Japanese Siblings with Autosomal Recessive Woolly Hair Journal of dermatology · 2011
    6. Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair Nature genetics · 2008
    7. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH Science · 2006