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Rotor Syndrome.

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GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2012 Dec 13.

Author information

1
Institute for Clinical and Experimental Medicine, Prague, Czech Republic
2
Institute of Liver Studies, King’s College Hospital, London, United Kingdom
3
Netherlands Cancer Institute, Amsterdam, The Netherlands
4
Institute for Inherited Metabolic Disorders, Prague, Czech Republic

Excerpt

CLINICAL CHARACTERISTICS:

Rotor syndrome is characterized by mild conjugated and unconjugated hyperbilirubinemia which usually begins shortly after birth or in childhood. Jaundice may be intermittent. Conjunctival icterus may be the only clinical manifestation.

DIAGNOSIS/TESTING:

Predominantly conjugated hyperbilirubinemia is the hallmark of the disorder: serum total bilirubin concentration is usually between 2 and 5 mg/dL, but can be higher. Biallelic inactivating pathogenic variants in the closely linked genes SLCO1B1 and SLCO1B3 that result in complete functional deficiencies of both protein products (OATP1B1 and OATP1B3, respectively) must be present to cause Rotor syndrome.

MANAGEMENT:

Treatment of manifestations: No treatment required. Agents/circumstances to avoid: Although no adverse drug effects have been documented in persons with Rotor syndrome, the absence of the hepatic proteins OATP1B1 and OATP1B3 may have serious consequences for liver uptake and, thus, toxicity of numerous commonly used drugs and/or their metabolites. Other: Because most individuals with Rotor syndrome are born to consanguineous couples, the diagnosis of Rotor syndrome may coincidentally identify such consanguinity. In some centers, this may be an indication for clinical genetics consultation and/or genetic counseling.

GENETIC COUNSELING:

Rotor syndrome is inherited in an autosomal recessive manner. The parents of an affected child are obligate heterozygotes for a pathogenic variant in SLCO1B1 and a pathogenic variant in SLCO1B3 or obligate heterozygotes for a large deletion affecting the coding regions of both SLCO1B1 and SLCO1B3. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier of at least one pathogenic variant, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible through laboratories offering either testing for the gene of interest or custom testing. Requests for prenatal testing for benign, clinically unimportant conditions such as Rotor syndrome are not expected to be common.

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