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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

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
Both rare and common genetic variants contribute to autism in the Faroe Islands.
ASD
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
ASD
Recent Recommendation
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN933R001 
 missense_variant 
 c.5818G>A 
 p.Ala1940Thr 
 De novo 
  
 Simplex 
 GEN933R002 
 stop_gained 
 C>T 
 p.Gln1518Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN933R003 
 missense_variant 
 c.1870G>A 
 p.Ala624Thr 
 De novo 
  
  
 GEN933R004 
 frameshift_variant 
 ins(GGAG) 
  
 De novo 
  
 Simplex 
 GEN933R005 
 missense_variant 
 G>A 
 p.Glu303Lys 
 De novo 
  
  
 GEN933R006 
 missense_variant;missense_variant 
  
 p.[Asn687Lys];[Asn687Lys] 
 Familial 
 Both parents 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Duplication
 1
 
11
Duplication
 1
 
11
Deletion
 5
 

No Animal Model Data Available

No PIN Data Available
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