Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.
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ABSTRACT:
SUBMITTER: Tamura M
PROVIDER: S-EPMC5425407 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
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Novel <i>DHCR7</i> 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 (<i>DHCR7</i>), 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]
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