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    
Abstract/OtherAbstract:
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.
Authors:
L Olavarrieta; C Morales-Angulo; I del Castillo; F Moreno; M A Moreno-Pelayo
Related Documents :
14635206 - Myh9 spectrum of autosomal-dominant giant platelet syndromes: unexpected association wi...
20231366 - Ane syndrome caused by mutated rbm28 gene: a novel etiology of combined pituitary hormo...
10536986 - A cascade of genes related to waardenburg syndrome.
20961246 - Mutant chuk and severe fetal encasement malformation.
17531716 - Phacoemulsification and intraocular lens implantation in alport syndrome with anterior ...
21721436 - Nephrotic syndrome in elderly patients: three years experience at siriraj hospital.
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    
Affiliation:
Unidad de Genética Molecular, Hospital Ramón y Cajal, 28034 Madrid, Spain.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Adult
Base Sequence
Branchio-Oto-Renal Syndrome / genetics*
Collagen Type II / genetics*
DNA Mutational Analysis
Female
Humans
Intracellular Signaling Peptides and Proteins / genetics*
Male
Middle Aged
Molecular Sequence Data
Mutation / genetics*
Nuclear Proteins / genetics*
Pedigree
Phenotype
Protein Tyrosine Phosphatases / genetics*
Syndrome
Tomography, X-Ray Computed
Chemical
Reg. No./Substance:
0/COL2A1 protein, human; 0/Collagen Type II; 0/Intracellular Signaling Peptides and Proteins; 0/Nuclear Proteins; EC 3.1.3.48/EYA1 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatases

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


Previous Document:  Familial Mediterranean Fever in Crete: a genetic and structural biological approach in a population ...
Next Document:  Genetic polymorphisms of matrix metalloproteinases in lung, breast and colorectal cancer.