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Chanarin-Dorfman Syndrome
Neutral lipid storage disease with ichthyosis (NLSD)

  • CGI-58 (aka ABHD5) (ortholog to C.elegans gene CGI-58; human abhydrolase domain containing 5 gene)
Chanarin-Dorfman syndrome (also known as neutral lipid storage disease with ichthyosis) is an autosomal recessive congenital ichthyosis caused by a metabolic defect in lipid metabolism. Babies may be born with a collodion membrane or demonstrate fine white scale on an erythematous background. Later, they develop hepatomegaly and liver steatosis. Other findings include muscle weakness, ataxia, sensorineural hearing loss, eye abnormalities and mental retardation.

Prior to sending a sample to GeneDx, it is recommended that an analysis of a fresh peripheral blood smear be examined by a hematologist/pathologist at a local clinical laboratory to detect lipid-containing vacuoles in circulating leukocytes. Alternatively, lipid stains (oil red O, Sudan III) can be used to detect cytoplasmic lipid droplets in keratinocytes and fibroblasts using fresh frozen skin sections. The Human Genetics Laboratory at the University of Nebraska Medical Center also provides screening of cultured fibroblasts for triglyceride accumulation (http://www.unmc.edu/services/geneticslab/Biochem.htm ).

GeneDx offers direct bi-directional sequence analysis of the coding sequence of the CGI-58/ABHD5 gene using genomic DNA obtained from a peripheral blood sample in EDTA or buccal (cheek) swabs. Carrier testing of relatives and prenatal diagnosis in at-risk pregnancies is available once the mutations in a family have been defined.

Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
Neutral lipid storage disease, NLSD, ichthyosis, CRI, CGI-58, ABHD5, lipid vacuoles, lipid droplets, blood smear, triglycerides, erythema, hepatomegaly, cataract, hearing loss, deafness

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