AI Article Synopsis
- Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder in Japan caused by mutations in the DHCR7 gene, leading to cholesterol synthesis issues.
- The reported Japanese case involved a 46,XY disorder of sex development and additional physical features like Y-shaped 2-3 toe syndactyly.
- Genetic analysis identified compound heterozygous mutations, including a novel mutation (H442R), and prompt diagnosis allowed for early cholesterol treatment.
Article 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.
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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425407 | PMC |
| http://dx.doi.org/10.1038/hgv.2017.15 | DOI Listing |
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