[From gene to disease; DFNA8/12, an autosomal dominant inherited bowl-shaped sensorineural hearing impairment].

Abstract

An autosomal dominant inherited disorder known as DFNA8/12 causes mild-to-moderate/severe mid-frequency or mild-to-severe progressive high-frequency sensorineural hearing impairment. The causative gene, TECTA, encodes alpha-tectorin, the most important non-collagenous component of the tectorial membrane in the cochlea and the otolith membrane in the maculae of the vestibular system. Mutations in the zona pellucida domain of alpha-tectorin cause mid-frequency hearing impairment, whereas mutations in the zonadhesin domain cause progressive high-frequency hearing impairment. The intact hearing in the low and high frequencies may prohibit successful correction with a hearing aid.

• Authors: C W R J Cremers, R F Plantinga, H Kremer
• Journal: Nederlands tijdschrift voor geneeskunde (Ned Tijdschr Geneeskd) Vol. 151 Issue 9 Pg. 531-4 (Mar 03 2007) ISSN: 0028-2162 [Print] Netherlands
• Vernacular Title: Van gen naar ziekte; DFNA8/12, een autosomaal dominant overervend komvormig perceptief gehoorverlies.
• PMID: 17373394 (Publication Type: English Abstract, Journal Article, Review)

Chemical References

• Extracellular Matrix Proteins
• GPI-Linked Proteins
• Membrane Glycoproteins
• TECTA protein, human

Topics

• Extracellular Matrix Proteins (genetics)
• Female
• GPI-Linked Proteins
• Genes, Dominant
• Genetic Linkage
• Hearing Loss, Sensorineural (genetics)
• Humans
• Male
• Membrane Glycoproteins (genetics)
• Mutation
• Pedigree