| Budget Amount *help |
¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 2001: ¥1,100,000 (Direct Cost: ¥1,100,000)
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| Research Abstract |
(1) A new patient of Smith-Lemli-Opitz syndrome was diagnosed using the serum 7-dehydrocholesterol measurement among 42 patients having suspicion of the syndrome.
(2) The newly diagnosed patient, a 4-month-old girl, has been treated with oral synthetic cholesterol. Though the serum cholesterol levels have been raised and controlled in some extents, her clinical conditions have not dramatically changed. Further observation will be recommended.
(3) Gene analyses of two patients (Code Nos. 96-003 and 97-021) were performed. The 96-003 patient was found to have a missense mutation of CGG converting to CAG resulting in R352Q. Thus, the patient 96-003 was found to be a homozygote. The 97-021 patient also had missense two mutations of CGG Gconverting to CAG resulting in R352Q and of CGC converting to CAC resulting in R242H. Thus, the 97-021 patient was found to be a compound heterozygote. These results revealed that these new mutaions found in Japanese patients have not been reported so far.
(4) Clinical manifestations of three patients (a-19-year-old boy, a 5-year-old boy and a 4-month-old girl) were compared to those of reported cases outside Japan. Clinical features characteristic of the Smith-Lemli-Opitz syndrome included peculiar face, mental retardation, microcephaly, failure to thrive, retensio testes, 2-3 syndactyly and hypocholesterolemia.
(5) Three new patients with chondroplasia punctata (CDPX2) were serologically diagnosed by the measurement of the serum 8-dehydrocholesterol.
(6) One of these three patients was further analyzed for mutation of emopamil-binding protein (EBP) gene, revealing a missense mutation.
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