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Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome
CONCLUSION: In spite of its absence in the control population, there is questionable evidence for the alteration c.114C->T in the HMX3 gene being implicated in the development of superior semicircular canal dehiscence (SSCD). However, the concept of a complex disease is valid for SSCD and a possi...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Informa Healthcare
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477893/ https://www.ncbi.nlm.nih.gov/pubmed/22779713 http://dx.doi.org/10.3109/00016489.2012.681797 |
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author | Roknic, Nikola Huber, Alexander Hegemann, Stefan C. A. Häusler, Rudolf Gürtler, Nicolas |
author_facet | Roknic, Nikola Huber, Alexander Hegemann, Stefan C. A. Häusler, Rudolf Gürtler, Nicolas |
author_sort | Roknic, Nikola |
collection | PubMed |
description | CONCLUSION: In spite of its absence in the control population, there is questionable evidence for the alteration c.114C->T in the HMX3 gene being implicated in the development of superior semicircular canal dehiscence (SSCD). However, the concept of a complex disease is valid for SSCD and a possible molecular origin can neither be confirmed nor excluded by the results of this study. OBJECTIVES: SSCD was first described in 1998 by Minor et al. While the etiology is not clear, findings from both temporal bone CT and histologic studies suggest a congenital or developmental origin. In recent years, a couple of genes regulating inner ear morphogenesis have been described. Specifically, Netrin-1 and HMX3 have been shown to be critically involved in the formation of the SCC. Molecular alterations in these two genes might lead to a disturbed development of this canal and might represent an explanation for SSCD. METHODS: DNA was extracted from whole blood of 15 patients with SSCD. The coding sequences of Netrin-1 and HMX3 were amplified by PCR and sequenced. RESULTS: One sequence alteration, heterozygous c.114C->T (conservative change without alteration of amino acid) in exon 1 of HMX3, was detected in 2 of 15 patients but not in 300 control chromosomes. The study was supported in part by the Emilia-Guggenheim-Schnurr-Foundation, Basel, Switzerland. |
format | Online Article Text |
id | pubmed-3477893 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Informa Healthcare |
record_format | MEDLINE/PubMed |
spelling | pubmed-34778932012-10-22 Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome Roknic, Nikola Huber, Alexander Hegemann, Stefan C. A. Häusler, Rudolf Gürtler, Nicolas Acta Otolaryngol Original Article CONCLUSION: In spite of its absence in the control population, there is questionable evidence for the alteration c.114C->T in the HMX3 gene being implicated in the development of superior semicircular canal dehiscence (SSCD). However, the concept of a complex disease is valid for SSCD and a possible molecular origin can neither be confirmed nor excluded by the results of this study. OBJECTIVES: SSCD was first described in 1998 by Minor et al. While the etiology is not clear, findings from both temporal bone CT and histologic studies suggest a congenital or developmental origin. In recent years, a couple of genes regulating inner ear morphogenesis have been described. Specifically, Netrin-1 and HMX3 have been shown to be critically involved in the formation of the SCC. Molecular alterations in these two genes might lead to a disturbed development of this canal and might represent an explanation for SSCD. METHODS: DNA was extracted from whole blood of 15 patients with SSCD. The coding sequences of Netrin-1 and HMX3 were amplified by PCR and sequenced. RESULTS: One sequence alteration, heterozygous c.114C->T (conservative change without alteration of amino acid) in exon 1 of HMX3, was detected in 2 of 15 patients but not in 300 control chromosomes. The study was supported in part by the Emilia-Guggenheim-Schnurr-Foundation, Basel, Switzerland. Informa Healthcare 2012-10 2012-07-10 /pmc/articles/PMC3477893/ /pubmed/22779713 http://dx.doi.org/10.3109/00016489.2012.681797 Text en Copyright: © Informa Healthcare http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the source is credited. |
spellingShingle | Original Article Roknic, Nikola Huber, Alexander Hegemann, Stefan C. A. Häusler, Rudolf Gürtler, Nicolas Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome |
title | Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome |
title_full | Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome |
title_fullStr | Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome |
title_full_unstemmed | Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome |
title_short | Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome |
title_sort | mutation analysis of netrin 1 and hmx3 genes in patients with superior semicircular canal dehiscence syndrome |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3477893/ https://www.ncbi.nlm.nih.gov/pubmed/22779713 http://dx.doi.org/10.3109/00016489.2012.681797 |
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