期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
卷 154C, 期 1, 页码 142-145出版社
WILEY-LISS
DOI: 10.1002/ajmg.c.30241
关键词
cyclopia; synophthalmia; Smith-Lemli-Opitz syndrome; birth defects; cholesterol; 7-dehydrocholesterol; holoprosencephaly
资金
- National Human Genome Research Institute, National Institutes of Health
Here we present a 24-week fetus with Smith-Lemli-Opitz syndrome (SLOS), alobar holoprosencephaly (HPE) and cyclopia (synophthalmia). Following birth, we suspected SILOS in this fetus due to the additional findings of ambiguous genitalia and bilateral 2-3 toe syndactyly. The diagnosis of SILOS was confirmed by finding an elevated amniotic fluid 7-dehydrocholesterol level (9,890 ng/ml normal range = 3-9 ng/ml), and molecularly by detecting two different mutations in the DHCR7 gene, the gene causing SLOS. The first mutation was an IVS8-1G > T change and the second was a deletion of exons 3 and 4; this latter mutation has not been reported previously. The mother carries the deletion, while the father carries the splice-site mutation. Also of note, the father has an abnormally low total plasma cholesterol level (104-109 mg/dl). This is the most severe case of HPE described in any patient with SILOS. We postulate that the HPE in this case resulted from severe impairment of Sonic Hedgehog signaling secondary to abnormal cholesterol metabolisms however, the unique combination of mutations in the fetus functionally appears to be no different from other homozygous null mutations reported in DHCR7. Therefore, there must be other yet to be identified factors that contributed to the severity of HPE in SILOS. (c) 2010 Wiley-Liss, Inc.
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