| Recurrent Johanson-Blizzard syndrome in a triplet pregnancy complicated by urethral obstruction sequence. A clinical, molecular and immunohistochemical approach. | |
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MedLine Citation:
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PMID: 21711208 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Abstract We report on a triplet pregnancy with one fetus being affected by recurrent Johanson-Blizzard syndrome (JBS). At autopsy in the 35th gestational week (g.w.) the affected triplet presented especially severe and lethal manifestation of the disorder as compared to his elder affected brother and to cases from the literature, thus exemplifying a great inter- and intrafamilial phenotypic variability. Arhinencephaly and cystic dysplasia of the kidneys in association with an urethral obstruction sequence were features that had not been described in JBS so far. Besides lack of exocrine acini as characteristic feature of JBS, the pancreas revealed a resorptive inflammatory reaction with infiltration by eosinophilic granulocytes that focally dispersed onto islets of Langerhans, thus favouring a progressive destructive rather than a primary dysplastic process and explaining occurrence of diabetes mellitus in later life. JBS maps to chromosome 15q15-q21.1 and is associated with mutations in the UBR1-gene. Testing the fetus and the affected sib revealed a homozygous truncating mutation in the UBR1-gene. The resulting defect of the UBR1 protein was confirmed in Western blot, but was missed in immunhistochemical investigations, suggesting that the applicated kind of antibody does not reliably function on paraffin embedded material. |
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Authors:
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Katharina Schoner; Barbara Fritz; Georg Hülskamp; Frank Louwen; Martin Zenker; Roland Moll; Helga Rehder |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-6-28 |
Journal Detail:
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Title: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society Volume: - ISSN: 1093-5266 ISO Abbreviation: - Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-6-29 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9809673 Medline TA: Pediatr Dev Pathol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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1 Philipps-University Marburg. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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