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

ABSTRACT: 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.

SUBMITTER: Tamura M

PROVIDER: S-EPMC5425407 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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

Tamura Mayuko M Isojima Tsuyoshi T Kasama Takeshi T Mafune Ryo R Shimoda Konomi K Yasudo Hiroki H Tanaka Hiroyuki H Takahashi Chie C Oka Akira A Kitanaka Sachiko S

Human genome variation 20170511

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. ...[more]

PMID: 28503313

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