A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China
Aim: Hypotrichosis simplex (MIM 146520) is a rare form of monogenic hereditary alopecia. Several genes have been identified as being associated with the disease, including LPAR6, LIPH, and DSG4. LSS encoding lanosterol synthase (LSS) has been shown to cause hypotrichosis simplex, but the related mec...
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| Format: | Article |
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Frontiers Media S.A.
2023-01-01
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| Series: | Frontiers in Physiology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fphys.2022.992190/full |
| _version_ | 1797959707885830144 |
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| author | Bei Zhao Bei Zhao Yisi Tang Wenjing Chen Huiying Wan Huiying Wan Jiyun Yang Xuejun Chen Xuejun Chen |
| author_facet | Bei Zhao Bei Zhao Yisi Tang Wenjing Chen Huiying Wan Huiying Wan Jiyun Yang Xuejun Chen Xuejun Chen |
| author_sort | Bei Zhao |
| collection | DOAJ |
| description | Aim: Hypotrichosis simplex (MIM 146520) is a rare form of monogenic hereditary alopecia. Several genes have been identified as being associated with the disease, including LPAR6, LIPH, and DSG4. LSS encoding lanosterol synthase (LSS) has been shown to cause hypotrichosis simplex, but the related mechanisms have not been elucidated to date. This study aims to find mutations in LSS from a Chinese family, among which a 21-year-old male patient and his 9-year-old sister were affected by hypotrichosis simplex.Methods: Dermoscopy and histological analysis were used to examine patients’ scalps, while exome sequencing was used to find the mutations in LSS.Results: The hair loss was only detected on the scalp of the proband and his sister, while other ectodermal structures were normal with no systemic abnormalities. Further, the exome sequencing identified a new homozygous mutation NM_002340.6 (LSS_v001):c.812T>C (p.(Ile271Thr)) in the LSS gene of the proband, which was also found in his sister. In addition, a heterozygous mutation of LSS was found in their asymptomatic parents. Finally, the possible protein structure of the mutational LSS was predicted.Conclusion: The hypotrichosis simplex reported here could be an autosomal recessive disease in this family. The mutation on LSS might reduce the enzyme activity of LSS, thus leading to the disease. |
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| institution | Directory Open Access Journal |
| issn | 1664-042X |
| language | English |
| last_indexed | 2024-04-11T00:35:30Z |
| publishDate | 2023-01-01 |
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| series | Frontiers in Physiology |
| spelling | doaj.art-034b2f3d6bab4fd0bd8ca4336cd8745c2023-01-06T18:11:31ZengFrontiers Media S.A.Frontiers in Physiology1664-042X2023-01-011310.3389/fphys.2022.992190992190A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of ChinaBei Zhao0Bei Zhao1Yisi Tang2Wenjing Chen3Huiying Wan4Huiying Wan5Jiyun Yang6Xuejun Chen7Xuejun Chen8Institute of Dermatology and Venereology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, ChinaSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, ChinaSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, ChinaSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, ChinaInstitute of Dermatology and Venereology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, ChinaSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, ChinaMedical Genetics Center, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, ChinaInstitute of Dermatology and Venereology, Sichuan Academy of Medical Sciences and Sichuan Provincial People’s Hospital, Chengdu, ChinaSchool of Medicine, University of Electronic Science and Technology of China, Chengdu, ChinaAim: Hypotrichosis simplex (MIM 146520) is a rare form of monogenic hereditary alopecia. Several genes have been identified as being associated with the disease, including LPAR6, LIPH, and DSG4. LSS encoding lanosterol synthase (LSS) has been shown to cause hypotrichosis simplex, but the related mechanisms have not been elucidated to date. This study aims to find mutations in LSS from a Chinese family, among which a 21-year-old male patient and his 9-year-old sister were affected by hypotrichosis simplex.Methods: Dermoscopy and histological analysis were used to examine patients’ scalps, while exome sequencing was used to find the mutations in LSS.Results: The hair loss was only detected on the scalp of the proband and his sister, while other ectodermal structures were normal with no systemic abnormalities. Further, the exome sequencing identified a new homozygous mutation NM_002340.6 (LSS_v001):c.812T>C (p.(Ile271Thr)) in the LSS gene of the proband, which was also found in his sister. In addition, a heterozygous mutation of LSS was found in their asymptomatic parents. Finally, the possible protein structure of the mutational LSS was predicted.Conclusion: The hypotrichosis simplex reported here could be an autosomal recessive disease in this family. The mutation on LSS might reduce the enzyme activity of LSS, thus leading to the disease.https://www.frontiersin.org/articles/10.3389/fphys.2022.992190/fullhypotrichosis simplexwhole exome sequencingLSS mutationautosomal recessive diseasesstructure prediction |
| spellingShingle | Bei Zhao Bei Zhao Yisi Tang Wenjing Chen Huiying Wan Huiying Wan Jiyun Yang Xuejun Chen Xuejun Chen A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China Frontiers in Physiology hypotrichosis simplex whole exome sequencing LSS mutation autosomal recessive diseases structure prediction |
| title | A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China |
| title_full | A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China |
| title_fullStr | A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China |
| title_full_unstemmed | A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China |
| title_short | A novel homozygous mutation in LSS gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China |
| title_sort | novel homozygous mutation in lss gene possibly causes hypotrichosis simplex in two siblings of a tibetan family from the western sichuan province of china |
| topic | hypotrichosis simplex whole exome sequencing LSS mutation autosomal recessive diseases structure prediction |
| url | https://www.frontiersin.org/articles/10.3389/fphys.2022.992190/full |
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