Document Detail

Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.
MedLine Citation:
PMID:  18177466     Owner:  NLM     Status:  MEDLINE    
Branchio-oto-renal (BOR) and Stickler (STL) syndromes are disorders that include hearing loss among their clinical features. STL syndrome type I (STL1) is a combination of ophthalmic, orofacial, articular, and auditory manifestations, caused by mutations in the COL2A1. BOR syndrome is an autosomal dominant trait encompassing branchial, otic and renal anomalies because of mutations in EYA1, SIX1 and SIX5. In this study, we have clinically and genetically diagnosed a proband that displayed STL1 and BOR syndromes. This patient and his younger brother exhibited hearing loss and cleft palate. Both siblings and their mother also showed myopia, congenital non-progressive vitreous anomaly and a flat face. Taken together, these clinical features are consistent with the diagnosis of a familial case of STL. Sequence analysis revealed in the three patients a novel COL2A1 mutation (c.1468_1475delinsT) that accounted for a STL1 phenotype. The proband also displayed pre-auricular pits, branchial fistulae and renal agenesis that define BOR syndrome. Interestingly, this patient carries an EYA1 mutation, p.R328X, which was not present in the two other patients or in his healthy father, supporting that the mutation arose de novo. In conclusion, this report highlights the importance of molecular testing and detailed clinical evaluation for the diagnosis of syndromes with overlapping phenotypic features.
L Olavarrieta; C Morales-Angulo; I del Castillo; F Moreno; M A Moreno-Pelayo
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-12-29
Journal Detail:
Title:  Clinical genetics     Volume:  73     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2008 Mar 
Date Detail:
Created Date:  2008-02-13     Completed Date:  2008-03-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  262-7     Citation Subset:  IM    
Unidad de Genética Molecular, Hospital Ramón y Cajal, 28034 Madrid, Spain.
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MeSH Terms
Abnormalities, Multiple / genetics*
Base Sequence
Branchio-Oto-Renal Syndrome / genetics*
Collagen Type II / genetics*
DNA Mutational Analysis
Intracellular Signaling Peptides and Proteins / genetics*
Middle Aged
Molecular Sequence Data
Mutation / genetics*
Nuclear Proteins / genetics*
Protein Tyrosine Phosphatases / genetics*
Tomography, X-Ray Computed
Reg. No./Substance:
0/COL2A1 protein, human; 0/Collagen Type II; 0/Intracellular Signaling Peptides and Proteins; 0/Nuclear Proteins; EC protein, human; EC Tyrosine Phosphatases

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