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Novel biallelic LSS variants in autosomal recessive hypotrichosis simplex: insights from a multi-omics approach.

Human genetics - 24 Dec 2025

Liu Xiaxia, Liu Kai, Wei Yuda, Qi Yongzhen, Luo Yangyang, Chen Tingli, Ye Xiaohua, Lu Junxu, Li Yunjia, Jiang Liangqian, Teng Juan, Geng Xingzhu, Gai Chengcheng, Xu Hongyan, Wang Hui, Li Lin, Gao Chunhai, Zhao Xiangyu

Abstract excerpt

Hypotrichosis simplex is a rare form of non-syndromic hereditary alopecia characterized by childhood-onset diffuse and progressive scalp and body hair loss. Several genes have been identified as being associated with hypotrichosis simplex, including LPAR6, LIPH, DSG4, SNRPE, APCDD1, and LSS, among others. In this study, by sequencing peripheral blood DNA from probands, four pairs of novel biallelic variants of...

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Source

Identifiers

PMID: 41442087
DOI: 10.1007/s00439-025-02802-5

Genes

LSS
APCDD1
DSG4
LIPH
LPAR6
SNRPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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