Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
Abstract Background Congenital hypotrichosis 14 is a nonsyndromic form of alopecia associated with pathogenic variants in the lanosterol synthase (LSS) gene. Recent studies have expanded the spectrum of LSS-related phenotypes, including congenital cataracts, alopecia-intellectual disability syndrome...
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| Format: | Article |
| Language: | English |
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BMC
2025-07-01
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| Series: | Human Genomics |
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| Online Access: | https://doi.org/10.1186/s40246-025-00798-7 |
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| author | Yujing Zhang Mengxi Zhao Xiangqian Li Yongping Zhao Yijie Sun Jianzhong Zhang Cong Yu Cheng Zhou |
| author_facet | Yujing Zhang Mengxi Zhao Xiangqian Li Yongping Zhao Yijie Sun Jianzhong Zhang Cong Yu Cheng Zhou |
| author_sort | Yujing Zhang |
| collection | DOAJ |
| description | Abstract Background Congenital hypotrichosis 14 is a nonsyndromic form of alopecia associated with pathogenic variants in the lanosterol synthase (LSS) gene. Recent studies have expanded the spectrum of LSS-related phenotypes, including congenital cataracts, alopecia-intellectual disability syndrome, and palmoplantar keratoderma. Currently, investigations into this disease are still limited, and its treatment remains elusive. Methods In this study, we aimed to report six Chinese patients who were diagnosed with hypotrichosis 14, whose conditions were attributed to five novel and recurrent variants in the LSS gene identified via whole exome sequencing. Moreover, the reported LSS gene has also been summarized. Results We described six patients in five Chinese families with hair loss, and one of whom had a rare accompanying phenotype of hypergonadotropic hypogonadism, which has rarely been reported. Five novel variants were discovered in the LSS gene, including c.919_921del (p.His307del), c.1987 C > T (p.Arg663Trp), c.982 C > T (p.Arg328*), c.1405_1407del (p.Glu469del) and c.193_200dup (p.Pro68Argfs*14). Conclusions Our comprehensive summary of phenotypes caused by LSS gene variants not only enriches the existing knowledge on congenital hypotrichosis 14 but also provides crucial guidance for more accurate genetic counseling and potentially new directions for future research in understanding the disease mechanism and developing targeted therapies. |
| format | Article |
| id | doaj-art-e44d616acb284f32aa131c21dc7beb07 |
| institution | Kabale University |
| issn | 1479-7364 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj-art-e44d616acb284f32aa131c21dc7beb072025-08-20T03:43:20ZengBMCHuman Genomics1479-73642025-07-0119111010.1186/s40246-025-00798-7Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature reviewYujing Zhang0Mengxi Zhao1Xiangqian Li2Yongping Zhao3Yijie Sun4Jianzhong Zhang5Cong Yu6Cheng Zhou7Department of Dermatology, Peking University People’s HospitalDepartment of Dermatology, Peking University People’s HospitalDepartment of Dermatology, Peking University People’s HospitalReproductive Medicine Center, Peking University People’s HospitalDepartment of Dermatology, Peking University People’s HospitalDepartment of Dermatology, Peking University People’s HospitalDepartment of Dermatology, Peking University People’s HospitalDepartment of Dermatology, Peking University People’s HospitalAbstract Background Congenital hypotrichosis 14 is a nonsyndromic form of alopecia associated with pathogenic variants in the lanosterol synthase (LSS) gene. Recent studies have expanded the spectrum of LSS-related phenotypes, including congenital cataracts, alopecia-intellectual disability syndrome, and palmoplantar keratoderma. Currently, investigations into this disease are still limited, and its treatment remains elusive. Methods In this study, we aimed to report six Chinese patients who were diagnosed with hypotrichosis 14, whose conditions were attributed to five novel and recurrent variants in the LSS gene identified via whole exome sequencing. Moreover, the reported LSS gene has also been summarized. Results We described six patients in five Chinese families with hair loss, and one of whom had a rare accompanying phenotype of hypergonadotropic hypogonadism, which has rarely been reported. Five novel variants were discovered in the LSS gene, including c.919_921del (p.His307del), c.1987 C > T (p.Arg663Trp), c.982 C > T (p.Arg328*), c.1405_1407del (p.Glu469del) and c.193_200dup (p.Pro68Argfs*14). Conclusions Our comprehensive summary of phenotypes caused by LSS gene variants not only enriches the existing knowledge on congenital hypotrichosis 14 but also provides crucial guidance for more accurate genetic counseling and potentially new directions for future research in understanding the disease mechanism and developing targeted therapies.https://doi.org/10.1186/s40246-025-00798-7Hypotrichosis 14AlopeciaLSSGenePathogenic variantsLanosterol synthase |
| spellingShingle | Yujing Zhang Mengxi Zhao Xiangqian Li Yongping Zhao Yijie Sun Jianzhong Zhang Cong Yu Cheng Zhou Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review Human Genomics Hypotrichosis 14 Alopecia LSS Gene Pathogenic variants Lanosterol synthase |
| title | Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review |
| title_full | Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review |
| title_fullStr | Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review |
| title_full_unstemmed | Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review |
| title_short | Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review |
| title_sort | hypotrichosis 14 novel variants of the lss gene in five chinese families and insights from literature review |
| topic | Hypotrichosis 14 Alopecia LSS Gene Pathogenic variants Lanosterol synthase |
| url | https://doi.org/10.1186/s40246-025-00798-7 |
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