Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3β-hydroxysteroid-Δ 5-desaturase

Nicola Brunetti-Pierri, Gaetano Corso, Massimiliano Rossi, Paola Ferrari, Fiorella Balli, Francesco Rivasi, Ida Annunziata, Andrea Ballabio, Antonio Dello Russo, Generoso Andria, Giancarlo Parenti

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)952-958
Number of pages7
JournalAmerican Journal of Human Genetics
Volume71
Issue number4
Publication statusPublished - 2002

ASJC Scopus subject areas

  • Genetics

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