|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Targeted exome sequencing further identified the causal mutations in the remaining seven families: CIB2:c.97C > T; p.(Arg33*), MYO7A:c.470+1G > A; p.(?), and SLC26A4:c.410C > T; p.(Ser137Leu) biallelic mutations in two families each, and a TECTA:c.2743 A > G; p.(Ile915Val) monoallelic mutation in the only family with autosomal dominant transmission of the HI.
|
30055715 |
2018 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
To our knowledge, this is the first reported TECTA mutation leading to the DFNB21 form of hearing impairment among Maghrebian individuals suffering from congenital hearing impairment, which further illustrates the diversity of the genes involved in congenital deafness in the Maghreb.
|
27368438 |
2016 |
|
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
BEFREE |
In particular 5 novel alleles were identified in the following genes LOXHD1, TMPRSS3, TECTA and MYO15A already associated with hearing impairment.
|
24657061 |
2014 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.
|
19005249 |
2009 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
Six mutations in the TECTA gene have already been reported in families segregating autosomal recessive non-syndromic hearing impairment.
|
18022253 |
2008 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
In this study, seventy-five Iranian families segregating autosomal recessive non-syndromic hearing impairment were analyzed for homozygosity at the DFNB21 locus by genotyping two short tandem repeat markers closely linked to the TECTA gene.
|
18022253 |
2008 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family.
|
17136632 |
2007 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
LHGDN |
Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.
|
17661817 |
2007 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In addition, the presently identified mutation affecting the ZP domain resulted in a substantially lesser degree of hearing impairment than was previously reported for DFNA8/12 traits with mutations affecting the ZP domain of alpha-tectorin.
|
16718611 |
2006 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
In several DFNA12 families mutations in TECTA, the gene encoding alpha-tectorin, were shown to cause hearing impairment (HI) with different phenotypes depending on the location of the mutation.
|
15319541 |
2004 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
A gene responsible for autosomal dominant non-syndromic hearing impairment in two families (DFNA8 and DFNA12) has recently been identified as TECTA encoding alpha-tectorin, a major component of the tectorial membrane.
|
10196713 |
1999 |
|
hearing impairment
|
0.500 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.
|
9949200 |
1999 |
|
hearing impairment
|
0.500 |
GeneticVariation
|
phenotype |
BEFREE |
These findings indicate that mutations in TECTA are responsible for hearing impairment in these families, and implicate a new type of protein in the pathogenesis of hearing impairment.
|
9590290 |
1998 |
|
hearing impairment
|
0.500 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|