Relevance to Autism

Two de novo missense variants and one de novo frameshift variant in the TECTA gene were detected in ASD probands from the Simons Simplex Collection (Sanders et al., 2012; Iossifov et al., 2014) and the Autism Sequencing Consortium (De Rubeis et al., 2014); one of the missense variants was later determined to be a postzygotic mosaic mutation (PZM) in Lim et al., 2017. A second non-synonymous PZM in this gene was identified in an ASD proband in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected based on background rates (2/571 observed vs. 14/84,448 expected; hypergeometric P-value of 3.9E-03). A maternally-transmitted nonsense variant in TECTA was detected in both affected siblings in a multiplex ASD family in Toma et al., 2014.

Molecular Function

The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. Alpha-tectorin is one of the major noncollagenous components of the tectorial membrane. Mutations in the TECTA gene have been shown to be responsible for autosomal dominant nonsyndromic hearing impairment and a recessive form of sensorineural pre-lingual non-syndromic deafness.

External Links

References