TLDR A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
This study identifies a novel compound heterozygous variant in the LIPH gene, c.530T>G (p.Leu177Arg), in a Chinese patient with autosomal recessive woolly hair and hypotrichosis (ARWH). This variant, along with a known variant c.742C>A (p.His248Asn), disrupts the secretion function of the enzyme PA-PLA1α, essential for hair follicle development, leading to a complete loss of its hydrolytic function and impaired hair growth. The research highlights a previously unrecognized pathogenic mechanism in ARWH and underscores the importance of LIPH variants in diagnosing ARWH in Chinese patients. The study also notes genetic similarities between Chinese and Japanese populations regarding ARWH, but its conclusions are based on a single patient, indicating the need for further research with larger cohorts.
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9 citations,
May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Topical minoxidil may help treat a rare genetic hair condition with no fully effective treatments yet.
15 citations,
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41 citations,
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210 citations,
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194 citations,
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9 citations,
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49 citations,
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1 citations,
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