| A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation. | |
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MedLine Citation:
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PMID: 19577669 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The facio-oculo-acoustico-renal syndrome (FOAR) is a rare autosomal recessive syndrome characterized by the presence of dysmorphic facial features, ocular anomalies, sensorineural hearing loss, and proteinuria. Diaphragmatic hernia, exomphalos, absent or abnormal corpus callosum, and myopia, can also be part of the syndrome. The disorder is caused by mutations of the LRP2 gene located on chromosome 2q23.3-q31.1. We hereby report the case of a 56-year-old female patient with typical FOAR features. Molecular study of the LRP2 gene revealed the presence of a novel splice-site mutation. In addition to what was reported in FOAR syndrome, this patient had a megadolichocolon complicated by a volvulus and a late-onset renal failure which necessitated hemodyalisis and renal transplantation. Reporting aging patients with genetic syndromes will provide information about their special needs and lead to improvements in their follow-up. |
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Authors:
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Samantha Stora; Martine Conte; Eliane Chouery; Sami Richa; Nadine Jalkh; Anne-Céline Gillart; Anne-Laure de Joannis; André Mégarbané |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-07-03 |
Journal Detail:
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Title: European journal of medical genetics Volume: 52 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2009 Sep-Oct |
Date Detail:
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Created Date: 2009-08-25 Completed Date: 2009-11-13 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 341-3 Citation Subset: IM |
Affiliation:
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Institut Jérôme Lejeune, Paris, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Carrier Proteins / genetics* Chromosomes, Human, Pair 2 Coloboma / genetics Eye* Face / abnormalities* Female Hearing Loss, Sensorineural / genetics* Humans Middle Aged Mutation* Proteinuria / genetics Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Carrier Proteins; 0/LRP2BP protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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