Document Detail

Paternal isodisomy of chromosome 2 in a child with bile salt export pump deficiency.
MedLine Citation:
PMID:  22364601     Owner:  NLM     Status:  In-Data-Review    
We describe a child with progressive familial intrahepatic cholestasis (PFIC) of type 2 inherited as uniparental isodisomy of chromosome 2. Bile salt export pump (BSEP) deficiency is a severe, genetically determined subtype PFIC caused by mutations in ABCB11, the gene encoding a bile salt transporter protein. Clinical and pathological diagnosis in PFIC2 is corroborated by an ample array of ABCB11 mutations, inherited in an autosomal recessive fashion. We report clinical, pathological, and molecular studies in a child with PFIC2. A 5.5-year-old boy harbored a described pathogenic mutation (p.R832C) in ABCB11. The mutation was found to be homozygous in the patient and heterozygous in DNA from paternal, but not maternal blood. Having ruled out maternal gene deletion and somatic mosaicism, we showed that the child had inherited an isodisomic paternal chromosome 2, including the 2q31.1 region where ABCB11 is located. The present report is the first description of uniparental isodisomy in a hepatic heritable disorder. Recognizing isodisomic transmission may have a significant impact on genetic counseling helping to define the risk of recurrence in subsequent pregnancies.
Isabella Giovannoni; Alessandra Terracciano; Fabrizio Gennari; Ezio David; Paola Francalanci; Filippo M Santorelli
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Hepatology research : the official journal of the Japan Society of Hepatology     Volume:  42     ISSN:  1386-6346     ISO Abbreviation:  Hepatol. Res.     Publication Date:  2012 Mar 
Date Detail:
Created Date:  2012-02-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9711801     Medline TA:  Hepatol Res     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  327-31     Citation Subset:  -    
Copyright Information:
© 2012 The Japan Society of Hepatology.
Units of Pathology Molecular Medicine and Neurosciences Hepatic Surgery, Children's Hospital Bambino Gesù, Rome Unit of Pathology, Molinette Hospital, Turin IRCCS Fondazione Stella Maris, Pisa, Italy.
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