Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-64698
Roknic, N; Huber, A M; Hegemann, S C A; Häusler, R; Gürtler, N (2012). Mutation analysis of Netrin 1 and HMX3 genes in patients with superior semicircular canal dehiscence syndrome. Acta Oto-Laryngologica, 132(10):1061-1065.
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Abstract 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.
|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > University Hospital Zurich > Clinic for Otorhinolaryngology|
|DDC:||610 Medicine & health|
|Deposited On:||18 Sep 2012 12:53|
|Last Modified:||11 Dec 2013 05:18|
|Publisher:||Taylor & Francis|
|Free access at:||Official URL. An embargo period may apply.|
|Related URLs:||http://informahealthcare.com/toc/oto/0/0 (Publisher)|
|Citations:||Web of Science®|
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