| Genetic syndromes involving hearing. | |
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MedLine Citation:
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PMID: 20114151 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: The fundamental processes involved in the mechanism of hearing seem to be controlled by hundreds of genes and hereditary hearing impairment may be caused by a large variety of genetic mutations in different genes. Approximately 150 loci for monogenic syndromic and non-syndromic hearing impairment (HI) disorders have been mapped to the human genome. The identification of these genes and functional analysis of the proteins they encode, are paving the way towards a better understanding of the physiology and pathophysiology of the auditory system. To date, approximately 50 causative genes have been identified. METHODS: The clinical and neuroradioldical findings of syndromal hearing impairment are analysed. RESULTS: This paper presents an updated report on genetic syndromes in which a hearing impairment is involved, with a particular attention to the ones associated with external ear and craniofacial malformations. CONCLUSIONS: Concepts in human genetics are rapidly evolving together with technologies. The concept itself of gene is changing. A genetic diagnosis of syndromal hearing impairment has many practical consequences: it can implies specific prognosis, specific management, specific recurrence risk in relatives and, if the diagnosis is confirmed at the molecular level, possibility of a specific early prenatal diagnosis for severe syndromes. It is important to highlight the necessity that the pediatric otolaryngologist must have a close collaboration with a clinical geneticist and a neuroradiologist. |
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Authors:
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Alessandro Martini; Ferdinando Calzolari; Alberto Sensi |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: International journal of pediatric otorhinolaryngology Volume: 73 Suppl 1 ISSN: 1872-8464 ISO Abbreviation: Int. J. Pediatr. Otorhinolaryngol. Publication Date: 2009 Dec |
Date Detail:
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Created Date: 2010-02-01 Completed Date: 2010-04-26 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8003603 Medline TA: Int J Pediatr Otorhinolaryngol Country: Ireland |
Other Details:
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Languages: eng Pagination: S2-12 Citation Subset: IM |
Copyright Information:
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Copyright 2009 Elsevier Ireland Ltd. All rights reserved. |
Affiliation:
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Audiology Department, Universitary Hospital, Ferrara, Italy. mma2@unife.it |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Female Gene Expression Genetic Testing Genome, Human Hearing Disorders / diagnosis, genetics*, physiopathology Humans Pregnancy Prenatal Diagnosis Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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