PMID: 9450875Feb 5, 1998Paper

Clinical phenotype of desmosterolosis

American Journal of Medical Genetics
D R FitzPatrickP Clayton

Abstract

We describe a child with lethal multiple malformations and generalised accumulation of desmosterol. The infant had macrocephaly, a hypoplastic nasal bridge, thick alveolar ridges, gingival nodules, cleft palate, total anomalous pulmonary venous drainage, ambiguous genitalia, short limbs, and generalised osteosclerosis. Gas chromatography-mass spectrometry demonstrated an abnormal accumulation of desmosterol in kidney, liver. and brain. Higher than normal levels of the same sterol were detected in plasma samples obtained from both parents. The biochemical phenotype in this infant is highly suggestive of a novel inborn error of cholesterol biosynthesis caused by an autosomal recessive deficiency of 3betahydroxysterol-delta24-reductase. A phenotypic overlap of this case with Raine syndrome was noted; however, desmosterol accumulation was not found on postmortem tissue samples from a previously reported case of this disorder.

Citations

Jun 26, 2014·Orphanet Journal of Rare Diseases·Cristina DiasCornelius F Boerkoel
Dec 2, 2008·Neuropsychiatric Disease and Treatment·Alessandro Peri, Mario Serio
Sep 24, 2010·Journal of Lipid Research·Steven J Fliesler, Lionel Bretillon
Oct 12, 2010·Journal of Lipid Research·Forbes D Porter, Gail E Herman
Apr 9, 2009·Frontiers in Neuroendocrinology·Alessandro PeriMario Serio
Jan 18, 2006·The Journal of Investigative Dermatology·Rusella MirzaHisao Seo
Nov 25, 2003·The Journal of Investigative Dermatology·Neil V WhittockPeter T Clayton
Aug 14, 2003·Annals of Human Genetics·P E JiraR A Wevers
Feb 5, 2008·The British Journal of Dermatology·R MirzaH Seo
Feb 7, 2013·Dermatologic Therapy·Joey E Lai-CheongAmy S Paller
Oct 9, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Gail E Herman, Lisa Kratz
Oct 9, 2012·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Melissa D SvobodaRobert D Steiner
Jun 15, 2011·American Journal of Medical Genetics. Part a·Christian P SchaafMarwan Shinawi
Oct 11, 2001·Molecular Genetics and Metabolism·N A NwokoroF D Porter
Jan 27, 2005·Molecular Genetics and Metabolism·Lina S Correa-Cerro, Forbes D Porter
Jul 31, 1998·American Journal of Human Genetics·R I Kelley
Apr 5, 2001·Biochimica Et Biophysica Acta·A B SerfisS J Fliesler
Oct 8, 2013·Progress in Lipid Research·Eser J ZerenturkAndrew J Brown
Mar 23, 2010·The Journal of Steroid Biochemistry and Molecular Biology·Akira HondaYasushi Matsuzaki
Jun 5, 2014·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Laura J SharpeAndrew J Brown
Apr 17, 2012·Biophysical Journal·Sourav HaldarAmitabha Chattopadhyay
Jul 18, 2002·Clinical Genetics·H R Waterham
Aug 15, 2014·Biology of Reproduction·Anthony M DeAngelisAnnabelle Rodriguez
Sep 25, 2010·Toxicological Sciences : an Official Journal of the Society of Toxicology·Joshua F RobinsonAldert H Piersma

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.