Smith-Lemli-Opitz syndrome in Japan

Growth charts for individuals with Smith–Lemli–Opitz syndrome

“…There is an estimated incidence of 1 in 10,000 to 60,000 live births, with a carrier frequency of about 0.8% to 2% [Tsukahara et al, 1998; Nowaczyk et al, 2001; Battaile et al, 2001; Wright et al, 2003]. Cholesterol is a biologic substrate for the formation of many important compounds such as myelin, cell membranes, bile acids, and steroid hormones.…”

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

“…11 Tsukahara et al 3 reported that the incidence of Smith-Lemli-Opitz syndrome varied between races and was very low among Africans and Asians, including Japanese. Because the biochemical and genetic abnormalities of Smith-Lemli-Opitz syndrome were elucidated, a few clinically diagnosed cases of Smith-LemliOpitz syndrome in Japan and India were reported, 3,8,9 and one genetically proven case of Smith-Lemli-Opitz syndrome involving 2 Lebanese families was reported. 12 Recently, Matsumoto et al 13 identified 5 kinds of mutations in 7 Japanese patients with Smith-Lemli-Opitz syndrome and suggested that R352Q is a common founder mutation in this population.…”

“…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-LemliOpitz 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 SmithLemli-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.…”

DHCR7 mutations causing the Smith—Lemli—Opitz syndrome

“…There are only a few reports of SLOS in Asia, but finally, as expected there are some cases. In Japan, where SLOS is estimated to be rare, another mutational spectrum regarding the European spectra was demonstrated, with p.Arg352Gln being the most frequent mutation [34,35]. An Indian patient was described in 2004 [36].…”