Abstract
We report the clinical, biochemical, and molecular characterization of a patient with a novel defect of cholesterol biosynthesis. This patient presented with a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease. In the patient's plasma and cells, we found increased levels of lathosterol. The biosynthesis of cholesterol in the patient's fibroblasts was defective, showing a block in the conversion of lathosterol into 7-dehydrocholesterol. The activity of 3β-hydroxysteroid-Δ 5-desaturase (SC5D), the enzyme involved in this reaction, was deficient in the patient's fibroblasts. Sequence analysis of the SC5D gene in the patient's DNA, showing the presence of two missense mutations (R29Q and G211D), confirmed that the patient is affected by a novel defect of cholesterol biosynthesis.
| Original language | English |
|---|---|
| Pages (from-to) | 952-958 |
| Number of pages | 7 |
| Journal | American Journal of Human Genetics |
| Volume | 71 |
| Issue number | 4 |
| Publication status | Published - 2002 |
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ASJC Scopus subject areas
- Genetics
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Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3β-hydroxysteroid-Δ 5-desaturase. / Brunetti-Pierri, Nicola; Corso, Gaetano; Rossi, Massimiliano; Ferrari, Paola; Balli, Fiorella; Rivasi, Francesco; Annunziata, Ida; Ballabio, Andrea; Dello Russo, Antonio; Andria, Generoso; Parenti, Giancarlo.
In: American Journal of Human Genetics, Vol. 71, No. 4, 2002, p. 952-958.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3β-hydroxysteroid-Δ 5-desaturase
AU - Brunetti-Pierri, Nicola
AU - Corso, Gaetano
AU - Rossi, Massimiliano
AU - Ferrari, Paola
AU - Balli, Fiorella
AU - Rivasi, Francesco
AU - Annunziata, Ida
AU - Ballabio, Andrea
AU - Dello Russo, Antonio
AU - Andria, Generoso
AU - Parenti, Giancarlo
PY - 2002
Y1 - 2002
N2 - We report the clinical, biochemical, and molecular characterization of a patient with a novel defect of cholesterol biosynthesis. This patient presented with a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease. In the patient's plasma and cells, we found increased levels of lathosterol. The biosynthesis of cholesterol in the patient's fibroblasts was defective, showing a block in the conversion of lathosterol into 7-dehydrocholesterol. The activity of 3β-hydroxysteroid-Δ 5-desaturase (SC5D), the enzyme involved in this reaction, was deficient in the patient's fibroblasts. Sequence analysis of the SC5D gene in the patient's DNA, showing the presence of two missense mutations (R29Q and G211D), confirmed that the patient is affected by a novel defect of cholesterol biosynthesis.
AB - We report the clinical, biochemical, and molecular characterization of a patient with a novel defect of cholesterol biosynthesis. This patient presented with a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease. In the patient's plasma and cells, we found increased levels of lathosterol. The biosynthesis of cholesterol in the patient's fibroblasts was defective, showing a block in the conversion of lathosterol into 7-dehydrocholesterol. The activity of 3β-hydroxysteroid-Δ 5-desaturase (SC5D), the enzyme involved in this reaction, was deficient in the patient's fibroblasts. Sequence analysis of the SC5D gene in the patient's DNA, showing the presence of two missense mutations (R29Q and G211D), confirmed that the patient is affected by a novel defect of cholesterol biosynthesis.
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UR - http://www.scopus.com/inward/citedby.url?scp=19044379648&partnerID=8YFLogxK
M3 - Article
C2 - 12189593
AN - SCOPUS:19044379648
VL - 71
SP - 952
EP - 958
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 4
ER -