ArticleMolecular genetics & genomic medicine2022
Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- METTL1-mediated m7G modification regulates hair follicle cycle via the HOXC13/FOXN1/DSG4 axis.PLoS genetics · 2026Article
- Follicular Lesions in Pediatric Dermatology: A Comprehensive Review and Approach Based on Clinical, Dermoscopic, and Histopathological Evaluation and Treatment.Indian dermatology online journal · 2026Article
- Rare Coexistence of Monilethrix and Trichorrhexis Nodosa in a Pediatric Patient: A Case Report.Clinical case reports · 2026Article
- Circ 0020938 inhibits hair follicle stem cells proliferation via the miR-142-5p/DSG4 axis in cashmere goats.BMC genomics · 2025Article
- Dermoscopic Patterns of Genodermatoses: A Comprehensive Analysis.Biomedicines · 2023Review
- Gene detection in a family with monilethrix and treatment with 5% topical minoxidil.Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI) · 2023Article
- Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families.Molecular genetics & genomic medicine · 2022Article
- Autosomal dominant monilethrix with incomplete penetrance due to a novel KRT86 mutation in a Chinese family.Anais brasileiros de dermatologiaArticle
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMonilethrix is a rare hereditary hair loss disorder characterized by hair fragility and beaded hair shaft alterations. Monilethrix is classically inherited in an autosomal dominant (AD) fashion caused by variants in the hair keratin genes KRT81, KRT83, or KRT86. Interestingly, an autosomal recessive (AR) form of monilethrix with variants in DSG4 gene has also been reported in recent years.
objectiveTo identify causative variants in Chinese patients with autosomal recessive (AR) form of monilethrix.
methodsThree families with AR form of monilethrix were observed and sequence variant analysis of DSG4 was performed by polymerase chain reaction (PCR), quantitative real-time PCR, and DNA sequencing.
resultsAll the patients had sparse, fragile hair involving the scalp, eyebrows, and eyelashes with keratotic follicular papules and pruritus since birth. Atypical-beaded hairs and broken hair shaft fragments were identified in all the patients under dermoscopy. Heterozygous variants c.837del and c. 2389C > T, a homozygous splice site variant c.2355 + 1G > A, and a homozygous 48,644 bp large deletion variant g.31381440_31430084del in the DSG4 gene were identified and verified in the families.
conclusionThis report provided further evidence for the phenotypic spectrum and clinical features of, and the expanded variant database of AR form of monilethrix.
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