ABSTRACT
Smith-Lemli-Opitz syndrome (SLOS) is an inherited multiple malformation syndrome caused by enzymatic deficiency of 3beta-hydroxysterol-Delta(7)-reductase (DHCR7). SLOS is thought to be most common among European Caucasians, with an incidence of 1 in 20,000 to 1 in 30,000 births. To define the carrier rate and ethnic distribution of SLOS, we screened DNA samples from 2,978 unrelated individuals for the most common SLOS mutation (IVS8-1G-->C). Twenty-four heterozygotes of the IVS8-1G-->C mutation were detected in 2,978 individuals of European Caucasian and Black backgrounds. For European Caucasians, the carrier rate for SLOS may be as high as 1 in 30, suggesting an incidence of 1 in 1,700 to 1 in 13,400. This high number is supported by the recent observation of newborn and prenatal incidence of 1 in 22,000 in the Caucasian population. Ours is the first report of the IVS8-1G-->C mutation in persons of African ancestry. Published 2001 Wiley-Liss, Inc.
Subject(s)
Gene Frequency/genetics , Mutation/genetics , Oxidoreductases Acting on CH-CH Group Donors , Oxidoreductases/genetics , Smith-Lemli-Opitz Syndrome/enzymology , Smith-Lemli-Opitz Syndrome/genetics , Europe/epidemiology , Europe/ethnology , Genetic Carrier Screening , Genetic Testing , Humans , Smith-Lemli-Opitz Syndrome/ethnologyABSTRACT
There have been only a few reports on Opitz syndrome in Japan. We report here a case of a Japanese male with canthal hypertelorism, bilateral cleft lip and palate, scrotal hypospadias with scrotal transposition, and cryptorchidism, findings that met the criteria for this syndrome. After repair of the cleft lip and palate, urethroplasty was performed at age 2, and bilateral orchiopexy was performed at age 3. At age 5, the child is of normal weight for his age, voids urine smoothly on standing, and has slight mental retardation.
