rs104886039
This is a stop gained variant in the DHCR7 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Identification of 14 novel mutations inDHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of theDHCR7 mutational spectra in Spain and ItalyCase reportN=47Witsch-Baumgartner M. et al.(2005)· Human Mutation
This study identified 14 novel mutations in the DHCR7 gene (encoding Δ7-sterol reductase) in 18 Smith-Lemli-Opitz syndrome (SLOS) patients from various European populations. The analysis of 20 Spanish and 12 Italian SLOS patients revealed distinct mutational spectra, with p.Thr93Met identified as a Mediterranean founder mutation (45% in Italian patients), while c.964-1G>C was most frequent in Spanish patients (30%) and showed frequency gradients across Europe.
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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