| A single nucleotide mutation in a Dutch family caused nonsyndromic autosomal dominant sensorineural hearing impairmentm | 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.
de Heer AR, Pauw RJ, Huygen PL, Collin RW, Kremer H, Cremers CW. | 01/21/2010 |
| Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation. | Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.
Collin RW, de Heer AM, Oostrik J, Pauw RJ, Plantinga RF, Huygen PL, Admiraal R, de Brouwer AP, Strom TM, Cremers CW, Kremer H. | 01/21/2010 |
| In this study, seventy-five Iranian families segregating autosomal recessive non-syndromic hearing impairment were analyzed. By sequencing all 23 coding exons of TECTA, a frameshift mutation was found. | A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.
Alasti F, Sanati MH, Behrouzifard AH, Sadeghi A, de Brouwer AP, Kremer H, Smith RJ, Van Camp G. | 01/21/2010 |
| Identification of a p.Cys1837Arg autosomal dominant mutation in alpha-tectorin segregating in family members with non-syndromic hearing loss. | Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.
Meyer NC, Nishimura CJ, McMordie S, Smith RJ. | 01/21/2010 |
| Study described six TECTA mutations in autosomal recessive nonsyndromic hearing loss Iranian families | Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.
Meyer NC, Alasti F, Nishimura CJ, Imanirad P, Kahrizi K, Riazalhosseini Y, Malekpour M, Kochakian N, Jamali P, Van Camp G, Smith RJ, Najmabadi H. | 01/21/2010 |
| distinctive phenotype associated with homozygosity for two novel frameshift mutations (649insC and 6037delG) of TECTA cosegregating with hearing loss linked to DFNB21 | Distinctive audiometric profile associated with DFNB21 alleles of TECTA.
Naz S, Alasti F, Mowjoodi A, Riazuddin S, Sanati MH, Friedman TB, Griffith AJ, Wilcox ER, Riazuddin S., Free PMC Article | 01/21/2010 |
| A nucleotide change in exon 13, 4526T>G, was detected leading to a substitution from cysteine to glycine at codon 1509 of the TECTA protein and causing hearing impairment. | A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations.
Pfister M, Thiele H, Van Camp G, Fransen E, Apaydin F, Aydin O, Leistenschneider P, Devoto M, Zenner HP, Blin N, Nürnberg P, Ozkarakas H, Kupka S. | 01/21/2010 |
| The presently identified mutation affecting the zona pellucida (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. | A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation.
Plantinga RF, de Brouwer AP, Huygen PL, Kunst HP, Kremer H, Cremers CW., Free PMC Article | 01/21/2010 |
| the sensorineural hearing impairment in TECTA mutations may be characterized as a cochlear conductive hearing impairment | Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family.
Plantinga RF, Cremers CW, Huygen PL, Kunst HP, Bosman AJ., Free PMC Article | 01/21/2010 |
| cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family | A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.
Moreno-Pelayo MA, del Castillo I, Villamar M, Romero L, Hernández-Calvín FJ, Herraiz C, Barberá R, Navas C, Moreno F., Free PMC Article | 10/17/2001 |