title: Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndrome.
abstract: We analyzed seven unrelated children with the Smith-Lemli-Opitz syndrome (SLOS) for mutations in the delta7-sterol reductase gene by using SSCP and direct sequencing. We identified two novel mutations (V330M and R363C) in the DHCR7 gene. Reported mutations found in this study were T93M (3/14 alleles), E448K (2/14), and W151X, G244R, P329L, and R446Q (each found in one allele). The so-called common IVS8-1 G --> C was found in three alleles, confirming its relative rarity among Italian SLOS families. By using a scoring system, clinical severity did not seem to correlate with 7DHC levels and type of mutation. Expanding the spectrum of mutations in SLOS, our study does not support direct genotype-phenotype correlation.
authors.affiliation: Molecular Medicine, Metabolism, and Genetics, IRCCS - Children's Hospital Bambino Gesù, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Patrono
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: A
authors.initials: A
authors.lastname: Giannotti
authors.forename: B
authors.initials: B
authors.lastname: Bembi
authors.forename: M C
authors.initials: MC
authors.lastname: Digilio
authors.forename: C
authors.initials: C
authors.lastname: Rizzo
authors.forename: C
authors.initials: C
authors.lastname: Purificato
authors.forename: C
authors.initials: C
authors.lastname: Martini
authors.forename: R
authors.initials: R
authors.lastname: Pierini
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D004252:DNA Mutational Analysis; D003684:Dehydrocholesterols / Q000097:blood; D005260:Female; D006801:Humans; D007223:Infant; D007558:Italy; D008297:Male; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012720:Severity of Illness Index; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics*
chemical_list: D003684:Dehydrocholesterols; C033144:lathosterol delta-5-dehydrogenase; D002784:Cholesterol; C016705:7-dehydrocholesterol; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase