Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

Orphanet Journal of Rare Diseases

Cornelius F Boerkoel²  Lisa E Kratz³  Michelle Demos⁵  Marco Marra⁶  Kunho Choi²  Benjamin Millar¹  Rosemarie Rupps²  Cristina Dias⁴ 

[1] Department of Medical Genetics, University of British Columbia, 4500 Oak St., Vancouver, British Columbia, V6H 3N1, Canada;Child and Family Research Institute, Children’s and Women’s Health Centre of British Columbia, 950 West 28th Ave., Vancouver, British Columbia, V5Z 4H4, Canada;Department of Neurogenetics, Kennedy Krieger Institute, 707 N. Broadway, Baltimore, Maryland MD 21205, USA;Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK;Division of Pediatric Neurology, Department of Pediatrics, University of British Columbia, Vancouver, 4480 Oak Street, Vancouver, British Columbia, V6H 3V4, Canada;Canada’s Michael Smith Genome Sciences Centre, 570 W 7th Ave, #100, Vancouver, British Columbia, V5Z 4S6, Canada

关键词: Exome sequencing;    Cholesterol biosynthesis;    Intellectual disability;    Desmosterol;    DHCR24;   

Others  :  861478
DOI  :  10.1186/1750-1172-9-94

 received in 2014-05-04, accepted in 2014-06-19,  发布年份 2014

【 摘 要 】

Desmosterolosis is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic mutations of DHCR24 (homozygous or compound heterozygous), which encodes 3-β-hydroxysterol Δ-24-reductase. We report two sisters homozygous for the 571G>A (E191K) DHCR24 mutation. Comparison of the propositae to other reported individuals shows that psychomotor developmental delay, failure to thrive, dysgenesis of the corpus callosum, cerebral white matter atrophy and spasticity likely constitute the minimal desmosterolosis phenotype. The nonspecific features of desmosterolosis make it difficult to suspect clinically and therefore screening for it should be entertained early in the diagnostic evaluation.

【 授权许可】

   
2014 Dias et al.; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

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