Abstract
The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis characterised by facial dysmorphisms, mental retardation and multiple congenital anomalies. SLOS is caused by mutations of the human Δ7-sterol reductase (DHCR7) gene and, so far, 19 different mutations have been described. Among these, mutations impairing the activity of the C-terminus appear to be the most severe. Here we report the mutational analysis of the DHCR7 gene in nine Italian SLOS patients. The T93M mutation, previously reported in one patient, results the most frequent one (7/18 alleles) in our survey. Furthermore, we identified three novel mutations, two missense mutations (N407Y and E448K), and a 33 bp deletion spanning part of exon 5 and the donor splice site of intron 5.
| Original language | English |
|---|---|
| Pages (from-to) | 937-940 |
| Number of pages | 4 |
| Journal | European Journal of Human Genetics |
| Volume | 7 |
| Issue number | 8 |
| Publication status | Published - 1999 |
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Keywords
- Δ7-sterol reductase
- DHCR7 mutations
- Smith-Lemli-Opitz syndrome
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
Smith-Lemli-Opitz syndrome : Evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations. / De Brasi, D.; Esposito, T.; Rossi, M.; Parenti, G.; Sperandeo, M. P.; Zuppaldi, A.; Bardaro, T.; Ambruzzi, Ma; Zelante, L.; Ciccodicola, A.; Sebastio, G.; D'Urso, M.; Andria, G.
In: European Journal of Human Genetics, Vol. 7, No. 8, 1999, p. 937-940.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Smith-Lemli-Opitz syndrome
T2 - Evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations
AU - De Brasi, D.
AU - Esposito, T.
AU - Rossi, M.
AU - Parenti, G.
AU - Sperandeo, M. P.
AU - Zuppaldi, A.
AU - Bardaro, T.
AU - Ambruzzi, Ma
AU - Zelante, L.
AU - Ciccodicola, A.
AU - Sebastio, G.
AU - D'Urso, M.
AU - Andria, G.
PY - 1999
Y1 - 1999
N2 - The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis characterised by facial dysmorphisms, mental retardation and multiple congenital anomalies. SLOS is caused by mutations of the human Δ7-sterol reductase (DHCR7) gene and, so far, 19 different mutations have been described. Among these, mutations impairing the activity of the C-terminus appear to be the most severe. Here we report the mutational analysis of the DHCR7 gene in nine Italian SLOS patients. The T93M mutation, previously reported in one patient, results the most frequent one (7/18 alleles) in our survey. Furthermore, we identified three novel mutations, two missense mutations (N407Y and E448K), and a 33 bp deletion spanning part of exon 5 and the donor splice site of intron 5.
AB - The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis characterised by facial dysmorphisms, mental retardation and multiple congenital anomalies. SLOS is caused by mutations of the human Δ7-sterol reductase (DHCR7) gene and, so far, 19 different mutations have been described. Among these, mutations impairing the activity of the C-terminus appear to be the most severe. Here we report the mutational analysis of the DHCR7 gene in nine Italian SLOS patients. The T93M mutation, previously reported in one patient, results the most frequent one (7/18 alleles) in our survey. Furthermore, we identified three novel mutations, two missense mutations (N407Y and E448K), and a 33 bp deletion spanning part of exon 5 and the donor splice site of intron 5.
KW - Δ7-sterol reductase
KW - DHCR7 mutations
KW - Smith-Lemli-Opitz syndrome
UR - http://www.scopus.com/inward/record.url?scp=0033380871&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033380871&partnerID=8YFLogxK
M3 - Article
C2 - 10602371
AN - SCOPUS:0033380871
VL - 7
SP - 937
EP - 940
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 8
ER -