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Novel variants in LSS related hypotrichosis simplex 14
Shengyuan Hua1,2,3, Biqing Fang4, Yile Cheng2
1Department of Dermatology, Shanghai Children's Hospital, School of Medicine, Shanghai JiaoTong University, Shanghai, China.
Frontiers in Genetics
|July 1, 2026
Summary
Genetic variants in the LSS gene cause Hypotrichosis simplex 14 (HS 14), a rare hair loss condition. This study identified novel LSS variants in pediatric patients, expanding the known genetic causes of HS 14.
Area of Science:
- Genetics
- Dermatology
- Molecular Biology
Background:
- Hypotrichosis simplex (HS) is a rare genetic alopecia with childhood onset.
- Limited research exists on LSS gene-related HS (HS 14), and genotype-phenotype correlations are unclear.
Purpose of the Study:
- To identify the genetic cause of congenital hypotrichosis in two Chinese pediatric patients.
- To expand the understanding of LSS gene variants associated with HS 14.
Main Methods:
- Whole-exome sequencing (WES) was used to analyze genetic variants in two patients and their parents.
- AlphaFold 2 and PROVEAN software were employed for structural and functional analysis of novel variants.
Main Results:
- Four compound heterozygous LSS variants were identified in the two HS 14 patients, including two novel variants: c.1594G>C; p.(Glu532Gln) and c.1010C>T; p.(Pro337Leu).
- Two previously reported variants (c.1054G>A; p.(Gly352Arg) and c.1303C>T; p.(Arg435Cys)) were also observed.
Conclusions:
- Novel LSS variants were identified, confirming diagnoses of HS 14 and expanding the known variant spectrum.
- Teeth dysplasia may be an associated phenotype in patients with LSS-related HS 14.
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