Document Detail

Hearing Loss in Syndromic Craniosynostoses: Introduction and Consideration of Mechanisms.
MedLine Citation:
PMID:  24686979     Owner:  NLM     Status:  Publisher    
PURPOSE There are a number of craniosynostoses syndromes with hearing loss , including Muenke ,Apert , Pfeiffer, Crouzon, Beare-Stevenson, Crouzon with acanthosis nigricans, and Jackson-Weiss syndromes, that result from mutations in the FGFR genes. Studies of Fibroblast Growth Receptors (FGFRs) and their ligands, Fibroblast Growth Factors (FGFs) have revealed clues to the precise contribution of aberrant FGFR signaling to inner ear morphogenesis and the hearing loss encountered in craniosynostoses. The purpose of this article is to review basic studies of FGFRs with emphasis on their function and expression in the inner ear and surrounding structures. METHODS A Medline search was done to find basic science articles regarding FGFR, their ligands, their expression and relevant mouse models. Additional items searched included clinical descriptions and studies of individuals with FGFR related craniosynostosis syndromes. RESULTS The FGF signaling pathway is essential for the morphogensis and proper function of the inner ear ad auditory sensory epithelium. CONCLUSIONS The variable auditory phenotypes seen in individuals with Muenke syndrome may have a genetic basis, likely due to multiple interacting factors in the genetic environment or modifying factors. Further analysis and studies of mouse models of Muenke syndrome in particular, may provide clues as to the specific effects of the defining mutation in FGFR3 in the inner ear not only at birth but into adulthood. Particularly, investigations into these models may give insight into the variable expression and incomplete penetrance of this phenotype as well.
Nneamaka B Agochukwu; Benjamin D Solomon; Maximilian Muenke
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-3-1
Journal Detail:
Title:  American journal of audiology     Volume:  -     ISSN:  1558-9137     ISO Abbreviation:  Am J Audiol     Publication Date:  2014 Mar 
Date Detail:
Created Date:  2014-4-1     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9114917     Medline TA:  Am J Audiol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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