Smith-Lemli-Optiz syndrome

Tomaraei, Sohrab N.; Sarkar, Bhaskar; Bansali, Anil; Marwaha, Ram Kumar

doi:10.1007/bf02860524

Cited by 7 publications

(4 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Similarly, estimates of only 1 in 60 000 newborns in the United Kingdom,27 1 in 80 000-100 000 births in The Netherlands (Waterham et al , unpublished data), and an even lower incidence in Japan36 have been reported. The number of cases with African,23 37Asian,38 39 or South American40 ancestry is also low. Although there remains some uncertainty about the absolute incidence of SLOS in some countries, there clearly are strikingly different incidences among various ethnic groups.…”

Section: Clinical Overviewmentioning

confidence: 97%

The Smith-Lemli-Opitz syndrome

Kelley

Hennekam

2000

Journal of Medical Genetics

448

517

View full text Add to dashboard Cite

The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for aVected patients. Moreover, the recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its eVects on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome. The well known role of cholesterol in the formation of steroid hormones has also provided a possible explanation for the abnormal behavioural characteristics of SLOS. (J Med Genet 2000;37:321-335)

show abstract

Section: Clinical Overviewmentioning

confidence: 97%

The Smith-Lemli-Opitz syndrome

Kelley

Hennekam

2000

Journal of Medical Genetics

448

517

View full text Add to dashboard Cite

show abstract

“…The incidence of this syndrome has been estimated to be on the order of 1/10,000 to 1/60,000 (Kelley and Hennekam, 2000;Nowaczyk et al, 2006). However, there are very few reports of Smith-Lemli-Opitz syndrome in Asian populations (Tomaraei et al, 1993;Cunniff et al, 1997;Chae et al, 2007). In this study, we report on an extremely irritable 10-month-old girl with SLOS and a G303R/R352W mutation, and discuss the effects of cholesterol therapy.…”

Section: Introductionmentioning

confidence: 94%

The Smith-Lemli-Opitz syndrome with a G303R/R352W mutation: in an extremely irritable child responsive to cholesterol supplementation

Lee

et al. 2010

Genes Genom

View full text Add to dashboard Cite

Smith-Lemli-Opitz syndrome(SLOS) is a hereditary disorder of cholesterol biosynthesis. It is characterized by growth deficiency, mental retardation and multiple congenital anomalies, including a typical facial appearance, cleft palate, syndactyly, and a variety of central nervous system and/or major congenital malformations. There are very few reports of the Smith-Lemli-Opitz syndrome in Korean children. Here, we report on a girl with a G303R/R352W mutation. The patient was extremely irritable; assessment of the severity of the irritability included severity scoring and the amount of sleep. Cholesterol supplementation was started with egg yolks, and the irritability improved.

show abstract

“…[1][2] Smith-Lemli-Opitz syndrome occurs at a relatively high frequency in Caucasians (1 in 20 000 to 30 000 live births). 3 Although the biochemical and genetic defects of this unique syndrome have been described, [3][4][5][6] there are very few reports of Smith-Lemli-Opitz syndrome in the Middle and East Asian population. [3][4][5][6] To date, more than 100 different mutations of the causative gene (DHCR7) have been identified in Smith-Lemli-Opitz syndrome patients.…”

Section: Clinical Reportmentioning

confidence: 99%

“…3 Although the biochemical and genetic defects of this unique syndrome have been described, [3][4][5][6] there are very few reports of Smith-Lemli-Opitz syndrome in the Middle and East Asian population. [3][4][5][6] To date, more than 100 different mutations of the causative gene (DHCR7) have been identified in Smith-Lemli-Opitz syndrome patients. 7 In this report, we describe a 4-year-old girl with a phenotype characteristic of Smith-Lemli-Opitz syndrome who has compound heterozygote mutations of the DHCR7 gene, one allelic mutation of which (1127-1128delA) is novel.…”

Section: Clinical Reportmentioning

confidence: 99%

Identification of a Novel DHCR7 Mutation in a Korean Patient With Smith-Lemli-Opitz Syndrome

et al. 2007

View full text Add to dashboard Cite

Smith-Lemli-Opitz syndrome is a unique malformation syndrome characterized by a defect in cholesterol biosynthesis, which is very rare among populations in Middle and East Asia. The authors identified compound heterozygous mutations ([p.Arg352Trp] + [p.Lys376ArgfsX37]) in a Korean girl with clinical and laboratory features typical of Smith-Lemli-Opitz syndrome. The Lys376ArgfsX37 mutation is a novel mutation, and to the best of the authors' knowledge, this is the first report of a clinically and genetically confirmed case of Smith-Lemli-Opitz syndrome in Korea.

show abstract

Smith-Lemli-Optiz syndrome

Cited by 7 publications

References 4 publications

The Smith-Lemli-Opitz syndrome

The Smith-Lemli-Opitz syndrome

The Smith-Lemli-Opitz syndrome with a G303R/R352W mutation: in an extremely irritable child responsive to cholesterol supplementation

Identification of a Novel DHCR7 Mutation in a Korean Patient With Smith-Lemli-Opitz Syndrome

Contact Info

Product

Resources

About