Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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Clinical and Molecular Genetic Characteristics of Korean Patients with Smith-Lemli-Opitz Syndrome: A Report of New Patients with a Literature Review

한국인 스미스-렘리-오피츠 증후군 환자의 임상 양상 및 유전자형: 새로운 증례 보고 및 문헌 고찰

  • Ko, Jung Min (Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital)
  • 고정민 (서울대학교 의과대학 소아과학교실, 서울대학교 어린이병원 소아청소년과)
  • Published : 2014.06.30
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Abstract

Smith-Lemli-Opitz syndrome (SLO) is a rare, autosomal recessive disease caused by an inborn error in cholesterol synthesis. Patients with this disease suffer from multiple malformations due to reduced activity of 7-dehydrocholesterol reductase (DHCR7), which increases 7-dehydrocholesterol (7DHC) and 8-dehydrocholesterol (8DHC) concentrations and decreases cholesterol concentration in body fluids and tissue. Here, we describe Korean siblings with SLO who were diagnosed recently, and performed a review of literature about Korean cases with SLO to date. Microcephaly and syndactyly of the second and third toes are the most common physical finding in SLOS patients. Other malformations including growth failure, cleft palate or bifid uvula, various heart malformation, genital ambiguity in males are also accompanied. Not all patients showed low levels of serum cholesterol, so DHCR7 mutation analysis can be helpful to confirmative diagnosis. Two mutations on p.R352 locus (p.R352W and p.R352Q) are commonly identified in Korean SLO patients. Although rare in Korea, SLO should be considered in the differential diagnosis of growth failure with intellectual disability, especially in patients with multiple congenital anomalies.

Keywords

References

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