Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development

Smith–Lemli–Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), 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 heter...

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Autores principales: Tamura, Mayuko, Isojima, Tsuyoshi, Kasama, Takeshi, Mafune, Ryo, Shimoda, Konomi, Yasudo, Hiroki, Tanaka, Hiroyuki, Takahashi, Chie, Oka, Akira, Kitanaka, Sachiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425407/
https://www.ncbi.nlm.nih.gov/pubmed/28503313
http://dx.doi.org/10.1038/hgv.2017.15
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author Tamura, Mayuko
Isojima, Tsuyoshi
Kasama, Takeshi
Mafune, Ryo
Shimoda, Konomi
Yasudo, Hiroki
Tanaka, Hiroyuki
Takahashi, Chie
Oka, Akira
Kitanaka, Sachiko
author_facet Tamura, Mayuko
Isojima, Tsuyoshi
Kasama, Takeshi
Mafune, Ryo
Shimoda, Konomi
Yasudo, Hiroki
Tanaka, Hiroyuki
Takahashi, Chie
Oka, Akira
Kitanaka, Sachiko
author_sort Tamura, Mayuko
collection PubMed
description Smith–Lemli–Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), 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.
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spelling pubmed-54254072017-05-12 Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development Tamura, Mayuko Isojima, Tsuyoshi Kasama, Takeshi Mafune, Ryo Shimoda, Konomi Yasudo, Hiroki Tanaka, Hiroyuki Takahashi, Chie Oka, Akira Kitanaka, Sachiko Hum Genome Var Data Report Smith–Lemli–Opitz syndrome is an autosomal recessive disease caused by mutations in 7-dehydrocholesterol reductase (DHCR7), 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. Nature Publishing Group 2017-05-11 /pmc/articles/PMC5425407/ /pubmed/28503313 http://dx.doi.org/10.1038/hgv.2017.15 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Tamura, Mayuko
Isojima, Tsuyoshi
Kasama, Takeshi
Mafune, Ryo
Shimoda, Konomi
Yasudo, Hiroki
Tanaka, Hiroyuki
Takahashi, Chie
Oka, Akira
Kitanaka, Sachiko
Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development
title Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development
title_full Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development
title_fullStr Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development
title_full_unstemmed Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development
title_short Novel DHCR7 mutation in a case of Smith–Lemli–Opitz syndrome showing 46,XY disorder of sex development
title_sort novel dhcr7 mutation in a case of smith–lemli–opitz syndrome showing 46,xy disorder of sex development
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425407/
https://www.ncbi.nlm.nih.gov/pubmed/28503313
http://dx.doi.org/10.1038/hgv.2017.15
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