Document Detail

Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.
MedLine Citation:
PMID:  18553553     Owner:  NLM     Status:  MEDLINE    
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition characterized by pathognomonic facies and a constellation of other features most notably exocrine pancreatic insufficiency, oligodontia, growth retardation, hearing loss, mental retardation, scalp defects, hypothyroidism and imperforate anus. We report on an infant with classical JBS who also has unusually severe neonatal cholestatic liver disease that progressed to liver fibrosis and portal hypertension. Sequencing of UBR1 revealed a previously unreported homozygous missense mutation in a consensus splice acceptor site (IVS12-1G > A). This report is the first to document severe liver involvement in JBS and raises the possibility that this could be a rare but genuine association.
Mohammed S Al-Dosari; Saleh Al-Muhsen; Ayman Al-Jazaeri; Julia Mayerle; Martin Zenker; Fowzan S Alkuraya
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-23     Completed Date:  2008-08-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1875-9     Citation Subset:  IM    
Copyright Information:
2008 Wiley-Liss, Inc.
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
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MeSH Terms
Abnormalities, Multiple / genetics*
Base Sequence
Craniofacial Abnormalities / genetics
DNA / genetics
Disease Models, Animal
Exocrine Pancreatic Insufficiency / genetics
Fetal Growth Retardation / genetics
Genes, Recessive
Hearing Disorders / genetics
Hypothyroidism / genetics
Infant, Newborn
Liver / abnormalities*,  pathology
Mice, Knockout
Point Mutation*
Ubiquitin-Protein Ligases / deficiency,  genetics*
Reg. No./Substance:
9007-49-2/DNA; EC protein, human; EC protein, mouse; EC Ligases

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