| Nonsyndromic 35 delG mutation of the connexin 26 gene associated with deafness in syndromic children: two case reports. | |
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MedLine Citation:
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PMID: 15091236 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVES/HYPOTHESIS: Several genetic diseases, such as velocardiofacial syndrome Del(22q11) and Down syndrome, are associated with hearing impairment. STUDY DESIGN: Case reports. METHODS: The authors reported two cases of hearing-impaired children, one with Del (22q11) and one with Down syndrome, both with bilateral nonevolutive profound sensorineural deafness. Because of unusual features of their deafness and familial history, genetic evaluation was proposed. A homozygous 35delG mutation on the Connexin 26 gene was found in both children (DFNB1 phenotype). RESULTS: A review of the reported otological features of Del (22q11) and Down syndrome showed that sensorineural deafness is rare and seldom profound. The authors found no evidence for a genetic link between Del(22q11) or Down syndrome and 35delG mutation on the Connexin 26 gene. CONCLUSION: The case reports reveal a coincidental association between DFNB1 and a multiple congenital anomaly syndrome. The clinician must be aware of this type of association to manage genetic counseling, appropriate otological care, and suitable treatment. |
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Authors:
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Frédéric Venail; Anne-Françoise Roux; Nathalie Pallares-Ruiz; Mireille Claustres; Patricia Blanchet; Quentin Gardiner; Michel Mondain |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The Laryngoscope Volume: 114 ISSN: 0023-852X ISO Abbreviation: Laryngoscope Publication Date: 2004 Mar |
Date Detail:
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Created Date: 2004-04-19 Completed Date: 2004-05-13 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 8607378 Medline TA: Laryngoscope Country: United States |
Other Details:
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Languages: eng Pagination: 566-9 Citation Subset: IM |
Affiliation:
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Service ENT Department, University Hospital Montpellier, France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Chromosomes, Human, Pair 22 / genetics* Connexins / genetics* Craniofacial Abnormalities / genetics* Down Syndrome / genetics* Female Hearing Loss, Sensorineural / genetics* Humans Male Mutation* Phenotype Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Connexins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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