Document Detail


A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation.
MedLine Citation:
PMID:  19577669     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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:
Type:  Case Reports; Journal Article     Date:  2009-07-03
Journal Detail:
Title:  European journal of medical genetics     Volume:  52     ISSN:  1878-0849     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2009 Sep-Oct
Date Detail:
Created Date:  2009-08-25     Completed Date:  2009-11-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  341-3     Citation Subset:  IM    
Affiliation:
Institut Jérôme Lejeune, Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / 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:
0/Carrier Proteins; 0/LRP2BP protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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