• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TECTA (HGNC:11720) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
tectorin alpha
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNA12, DFNA8, DFNB21
Alias symbols
No aliases found
%HI
11.78(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.58(Read more about gnomAD LOEUF score)
Cytoband
11q23.3
Genomic Coordinates
GRCh37/hg19: chr11:120971952-121062199 NCBI Ensembl UCSC
GRCh38/hg38: chr11:121101243-121191490 NCBI Ensembl UCSC
MANE Select Transcript
NM_005422.4 ENST00000392793.6 (Read more about MANE Select)
Function
One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and 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. {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26113
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
02/07/2018

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Deafness, autosomal recessive 21 Monarch
HI Evidence:
  • PUBMED: 12746400
    Naz et al. 2003 identified 2 families with segregation of nonsyndromic deafness. One family had the c.649dup (p.Thr217AsnfsX32, stop in exon 5) variant and the other family had the c.6037delG (p.Glu2013ArgfsX6, stop in exon 20/23) variant. The c.649dup family had 10 affecteds and 8 unaffecteds and the c.6037delG had 3 affecteds and 5 unaffecteds. These variants are both predicted to cause truncated or absent protein leading to loss of function (LOF) and haploinsufficiency. Therefore, their detection and segregation in individuals with deafness provides support for haploinsufficiency as the mechanism for autosomal recessive deafness 21.
  • PUBMED: 28012541
    Asgharzade et al. 2017 identified a consanguineous Iranian family with prelingual moderate to severe sensorineural hearing loss that was more severe at mid frequencies. Through linkage analysis and then TECTA sequencing, they identified a novel c.734G>A (p.W245X) variant in exon 5 of TECTA that segregated with disease in 5 affected and 2 unaffected individuals. This variant is also a convincing loss of function (LOF) variant that provides support for AR LOF leading to prelingual hearing loss that is usually profound but in this case was moderate to severe.
  • PUBMED: 21520338
    This study identified a c.1124delT p.Val375AlaX4 variant that was found to segregate in an autosomal dominant manner in a Spanish family. This supports that haploinsufficiency is a mechanism instead of just biallelic LOF. This study did only sequence exons and flanking intronic regions of TECTA so they may still be considered coincidental carriers for a mutation that is not detectable by the methods used in the study.
HI Evidence Comments:
There have been at least 8 cases of autosomal recessive deafness caused by biallelic loss of function of TECTA. Though the phenotype is traditionaly thought of as profound deafness, many families experienced moderate to severe stable or mid frequency hearing loss. Though the phenotypic spectrum is somewhat broad, the mechanism of autosomal recessive loss of function is definitely established by case data.Of note, Hildebrand et al. identified a frameshift variant that segregated in an autosomal dominant manner with postlingual mid frequency hearing loss. This study did only sequence exons and flanking intronic regions of TECTA so they may still be considered coincidental carriers for a mutation that is not detectable by the methods used in the study. Variation in TECTA has been reported in individuals with ADNSHL and ARNSHL. Furthermore, the overall evidence that TECTA, when altered, can cause ADNSHL or ARNSHL was expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There is currently no distinct phenotype for TECTA triplosensitivity.

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)