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

LIPH gene autosomal recessive woolly hair hypotrichosis congenital alopecia frame-shift mutation next-generation sequencing Sanger sequencing ARWH hair loss genetic hair disorder

TLDR Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

The study described a 32-year-old woman with autosomal recessive woolly hair/hypotrichosis (ARWH/H), a rare congenital alopecia. Using next-generation and Sanger sequencing, researchers identified a novel frame-shift mutation (NM_139248: c.686delinsGTAGAACCCAACCTGGCT: p.Asp229fs37X) and a previously reported mutation (NM_139248: exon6:c.T736A: p.C246S) in the LIPH gene. Hair microscopy revealed abnormal hair appearance. The findings expanded the known mutation spectrum of the LIPH gene and highlighted similarities in ARWH between Chinese and Japanese populations. No conflicts of interest were declared.

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research Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

9 citations , February 2018 in “The Journal of Dermatology”

A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.

research Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

12 citations , December 2016 in “British journal of dermatology/British journal of dermatology, Supplement”

Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.

research Homozygous Missense Mutation in the LIPH Gene Causing Autosomal Recessive Hypotrichosis Simplex in a Chinese Patient

2 citations , December 2013 in “Journal of dermatology”

A specific gene mutation causes a rare hair loss condition in a Chinese patient.

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

Cited in this study

research Novel Splice Site Mutation in the LIPH Gene in a Patient with Autosomal Recessive Woolly Hair/Hypotrichosis: Case Report and Published Work Review

research Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

research Homozygous Missense Mutation in the LIPH Gene Causing Autosomal Recessive Hypotrichosis Simplex in a Chinese Patient

research Identification of 736T>A Mutation of Lipase H in Japanese Siblings with Autosomal Recessive Woolly Hair

research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair

research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH