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Two novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese family.

作者信息

Yang Linfang, Li Shengjie, Yao Mengmeng, Jiang Shibin, Cheng Fang, Jia Xinmiao

机构信息

Departments of Dermatology, Xingtai People's Hospital, Xingtai, Hebei, China.

Biomedical Engineering Facility of National Infrastructures for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.

出版信息

J Cosmet Dermatol. 2024 Dec;23(12):4377-4379. doi: 10.1111/jocd.16530. Epub 2024 Aug 16.

DOI:10.1111/jocd.16530
PMID:39152648
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11626345/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dda5/11626345/d8fcb829b2d7/JOCD-23--g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dda5/11626345/d8fcb829b2d7/JOCD-23--g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dda5/11626345/d8fcb829b2d7/JOCD-23--g001.jpg

相似文献

1
Two novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese family.一个中国家系中与单纯性少毛症相关的LSS基因的两个新突变。
J Cosmet Dermatol. 2024 Dec;23(12):4377-4379. doi: 10.1111/jocd.16530. Epub 2024 Aug 16.
2
A novel homozygous mutation in gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China.在中国四川省西部一个藏族家庭的两名兄弟姐妹中，某基因的一种新型纯合突变可能导致单纯性毛发稀少。
Front Physiol. 2023 Jan 6;13:992190. doi: 10.3389/fphys.2022.992190. eCollection 2022.
3
Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene.与LSS基因相关的中国单纯性毛发稀少症患者中的新突变。
J Dermatol. 2021 Mar;48(3):408-412. doi: 10.1111/1346-8138.15697. Epub 2020 Nov 22.
4
Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene.两例由LSS基因复合杂合突变引起的严重先天性少毛症病例。
J Dermatol. 2021 Mar;48(3):392-396. doi: 10.1111/1346-8138.15679. Epub 2020 Nov 6.
5
A case of LSS-associated congenital nuclear cataract with hypotrichosis and literature review.一例与 LSS 相关的先天性核性白内障伴少毛症，并文献复习。
Am J Med Genet A. 2023 Sep;191(9):2398-2401. doi: 10.1002/ajmg.a.63355. Epub 2023 Jul 17.
6
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.LSS 基因中的双等位基因突变导致常染色体隐性单纯性少毛症。
Am J Hum Genet. 2018 Nov 1;103(5):777-785. doi: 10.1016/j.ajhg.2018.09.011. Epub 2018 Oct 25.
7
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene].一个中国头皮单纯性少毛症家系的临床调查及CDSN基因的突变分析
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):452-4. doi: 10.3760/cma.j.issn.1003-9406.2012.04.016.
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Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.人类 LSS 缺乏症的代谢和病理特征在小鼠中得到再现。
PLoS Genet. 2020 Feb 26;16(2):e1008628. doi: 10.1371/journal.pgen.1008628. eCollection 2020 Feb.
9
A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.一例由 LSS 基因复合杂合变异引起的先天性白内障伴少毛症。
Mol Genet Genomic Med. 2024 Jan;12(1):e2320. doi: 10.1002/mgg3.2320. Epub 2023 Nov 10.
10
Non-syndromic hypotrichosis: A report of two novel variants in the LSS gene.非综合征性毛发稀疏症：LSS 基因的两个新变异体报告。
Pediatr Dermatol. 2023 Sep-Oct;40(5):960-961. doi: 10.1111/pde.15320. Epub 2023 Apr 7.

本文引用的文献

1
Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.四个LSS基因突变的毛发稀少症家族，伴有或不伴有神经发育表型。
Am J Med Genet A. 2021 Dec;185(12):3900-3904. doi: 10.1002/ajmg.a.62438. Epub 2021 Jul 27.
2
Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene.两例由LSS基因复合杂合突变引起的严重先天性少毛症病例。
J Dermatol. 2021 Mar;48(3):392-396. doi: 10.1111/1346-8138.15679. Epub 2020 Nov 6.
3
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
人类 LSS 缺乏症的代谢和病理特征在小鼠中得到再现。
PLoS Genet. 2020 Feb 26;16(2):e1008628. doi: 10.1371/journal.pgen.1008628. eCollection 2020 Feb.
4
A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family.一个中国家庭中与少毛症14相关的LSS基因的新突变和一个已知突变。
J Dermatol. 2019 Nov;46(11):e393-e395. doi: 10.1111/1346-8138.15010. Epub 2019 Jul 19.