rs80338864
This is a variant in the DHCR7 gene that changes a glutamate to an lysine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Identification of three patients with a very mild form of Smith‐Lemli‐Opitz syndromeCase reportN=3Fernanda A.A. Langius et al.(2003)· American Journal of Medical Genetics Part A
Three patients with a very mild form of Smith-Lemli-Opitz syndrome (SLOS) are described, characterized by minimal dysmorphic features, normal plasma cholesterol, and only slightly elevated dehydrocholesterol levels. All three patients were compound heterozygotes for a novel M1L translation initiation mutation in the DHCR7 gene; two also carried the common IVS8-1G>C splice site mutation, and one carried E448K. The diagnosis could only be confirmed through genetic analysis combined with sensitive biochemical testing, emphasizing that mild SLOS cases may be underdiagnosed.
About DHCR7
This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome (SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same protein.[provided by RefSeq, Aug 2009]
View all DHCR7 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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