TY - JOUR
T1 - A Novel Mutation of the DHCR7 Gene in a Sicilian Compound Heterozygote with Smith-Lemli-Opitz Syndrome
AU - Noto, Davide
AU - Cefalu', Angelo Baldassare
AU - Averna, Maurizio
AU - Pezzino, Franca Maria
AU - Cefalù, Angelo Baldassare
AU - Romano, Fabrizio
AU - Puglisi, Ambra
AU - Longombardo, Maria Teresa
AU - Fiore, Barbara
AU - Mattina, Teresa
AU - Noto, Davide
AU - Travali, Salvatore
AU - Brogna, Alfio
AU - Averna, Maurizio
PY - 2005
Y1 - 2005
N2 - INTRODUCTION:Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis, resulting from deficient 7-dehydrocholesterol reductase (3beta-hydroxysterol Delta7-reductase) activity, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. SLOS is most common among people of European descent, with a reported incidence of 1 per 20,000-60,000 newborns, depending on the diagnostic criteria and the reference population. More than 80 different mutations have been identified in several hundred patients. In Italy, SLOS appears to be a rare condition, probably because of underdiagnosis.METHOD:We analyzed by direct sequencing the 7-dehydrocholesterol reductase gene (DHCR7) in a Sicilian patient with Smith-Lemli-Opitz syndrome and his parents in order to characterize the molecular defect.RESULTS:The molecular analysis of the coding exons and the intron-exon boundaries of the DHCR7 gene demonstrated the presence of two missense mutations: a novel mutation (I251N) and a known mutation (E288K) responsible in a compound heterozygous state for a severe form of SLOS.CONCLUSION:The present study describes a Sicilian patient, a carrier of a novel mutation of the DHCR7 gene (I251N), which is responsible in a compound heterozygous state for a severe form of SLOS.
AB - INTRODUCTION:Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis, resulting from deficient 7-dehydrocholesterol reductase (3beta-hydroxysterol Delta7-reductase) activity, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. SLOS is most common among people of European descent, with a reported incidence of 1 per 20,000-60,000 newborns, depending on the diagnostic criteria and the reference population. More than 80 different mutations have been identified in several hundred patients. In Italy, SLOS appears to be a rare condition, probably because of underdiagnosis.METHOD:We analyzed by direct sequencing the 7-dehydrocholesterol reductase gene (DHCR7) in a Sicilian patient with Smith-Lemli-Opitz syndrome and his parents in order to characterize the molecular defect.RESULTS:The molecular analysis of the coding exons and the intron-exon boundaries of the DHCR7 gene demonstrated the presence of two missense mutations: a novel mutation (I251N) and a known mutation (E288K) responsible in a compound heterozygous state for a severe form of SLOS.CONCLUSION:The present study describes a Sicilian patient, a carrier of a novel mutation of the DHCR7 gene (I251N), which is responsible in a compound heterozygous state for a severe form of SLOS.
UR - http://hdl.handle.net/10447/31462
M3 - Article
VL - 9
SP - 201
EP - 204
JO - Molecular Diagnosis and Therapy
JF - Molecular Diagnosis and Therapy
SN - 1177-1062
ER -