A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of the DHCR7 gene in Korea.
- Author:
Moon Yeon OH
1
;
Jun Suk KIM
;
Ja Hye KIM
;
Ja Hyang CHO
;
Beom Hee LEE
;
Gu Hwan KIM
;
Jin Ho CHOI
;
Han Wook YOO
Author Information
- Publication Type:Case Report
- Keywords: Smith-Lemli-Opitz syndrome; 7-Dehydrocholesterol reductase; DHCR7
- MeSH: Asian Continental Ancestry Group; Cryptorchidism; Ductus Arteriosus, Patent; Far East; Heart Septal Defects, Atrial; Humans; Intellectual Disability; Korea; Male; Microcephaly; Smith-Lemli-Opitz Syndrome*; Syndactyly; Toes
- From:Journal of Genetic Medicine 2014;11(2):86-90
- CountryRepublic of Korea
- Language:English
- Abstract: Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient with SLOS who presented with typical facial features, undescended testes, microcephaly, bilateral syndactyly of the second and third toes, and cardiac defects, including patent ductus arteriosus and atrial septal defect. Mutation analysis of the DHCR7 gene identified compound heterozygous mutations of c.907G>A (p.Gly303Arg) and c.1055G>A (p.Arg352Gln). In a review of the literature, c.1054C>T (p.Arg352Trp) was the most common mutation reported in Far East Asian countries. This report describes the clinical features, biochemical data, molecular characteristics, and clinical outcome of a Korean patient with SLOS.
