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一例患有史密斯-勒米-奥皮茨综合征且表现为46，XY性发育障碍的患者中的新型突变。

Novel mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.

作者信息

Tamura Mayuko, Isojima Tsuyoshi, Kasama Takeshi, Mafune Ryo, Shimoda Konomi, Yasudo Hiroki, Tanaka Hiroyuki, Takahashi Chie, Oka Akira, Kitanaka Sachiko

机构信息

Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Japan Society for the Promotion of Science, Tokyo, Japan.

出版信息

Hum Genome Var. 2017 May 11;4:17015. doi: 10.1038/hgv.2017.15. eCollection 2017.

DOI:10.1038/hgv.2017.15
PMID:28503313
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5425407/
Abstract

Smith-Lemli-Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (), which is rarely observed in Japan. We report a Japanese case with 46,XY disorder of sex development and Y-shaped 2-3 toe syndactyly. DHCR7 gene analysis revealed compound heterozygous mutations including the novel mutation H442R. Early diagnosis led to starting cholesterol treatment at an early age.

摘要

史密斯-勒米-奥皮茨综合征是一种由7-脱氢胆固醇还原酶基因突变引起的常染色体隐性疾病，在日本很少见。我们报告了一例患有46,XY性发育障碍和Y形2-3趾并指畸形的日本病例。DHCR7基因分析显示存在复合杂合突变，包括新发现的H442R突变。早期诊断使得能够在患者幼年时就开始进行胆固醇治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8410/5425407/9cc47833d789/hgv201715-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8410/5425407/76107355fd6f/hgv201715-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8410/5425407/9cc47833d789/hgv201715-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8410/5425407/76107355fd6f/hgv201715-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8410/5425407/9cc47833d789/hgv201715-f2.jpg

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Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosis of Smith-Lemli-Opitz syndrome.毛发中 7-脱氢胆固醇和胆固醇的测定可用于史密斯-林利-欧皮茨综合征的诊断。
J Lipid Res. 2022 Jun;63(6):100228. doi: 10.1016/j.jlr.2022.100228. Epub 2022 May 14.
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Cholesterol Contributes to Male Sex Differentiation Through Its Developmental Role in Androgen Synthesis and Hedgehog Signaling.

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R352Q mutation of the DHCR7 gene is common among Japanese Smith-Lemli-Opitz syndrome patients.DHCR7基因的R352Q突变在日本史密斯-勒米-奥皮茨综合征患者中很常见。
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