Screening of the DFNB3 Locus: Identification of Three Novel Mutations of MYO15A Associated with Hearing Loss and Further Suggestion for Two Distinctive Genes on This Locus-Reference-Cited by-同舟云学术

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Screening of the DFNB3 Locus: Identification of Three Novel Mutations of MYO15A Associated with Hearing Loss and Further Suggestion for Two Distinctive Genes on This Locus

Published:2009-02 Issue:1 Volume:13 Page:147-151
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Belguith Hanen¹,Aifa-Hmani Mounira¹,Dhouib Houria²,Said Mariem Ben¹,Mosrati Mohamed Ali¹,Lahmar Imed³,Moalla Jihen²,Charfeddine Ilhem²,Driss Nabil³,Arab Saida Ben⁴,Ghorbel Abdelmonem²,Ayadi Hammadi¹,Masmoudi Saber¹

Affiliation:

1. Unité Cibles pour le Diagnostic et la Thérapie, Centre de Biotechnologie de Sfax, Sfax, Tunisia.

2. Service d'O.R.L., C.H.U.H. Bourguiba de Sfax, Sfax, Tunisia.

3. Service d'O.R.L., C.H.U. de Mahdia, Sfax, Tunisia.

4. Unité d'Epidémiologie Génétique et Moléculaire, Faculté de Médecine, Tunis, Tunisia.

Publisher

Mary Ann Liebert Inc

Subject

Genetics (clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2008.0077

Reference23 articles.

1. The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells

2. Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle

3. Myosin-XVa is required for tip localization of whirlin and differential elongation of hair-cell stereocilia

4. Comparative analysis detects dependencies among the 5′ splice-site positions

5. Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

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1. Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A;BMC Medical Genomics;2022-11-18

2. Analysis of the genotype–phenotype correlation of MYO15A variants in Chinese non-syndromic hearing loss patients;BMC Medical Genomics;2022-03-26

3. Hearing loss in Africa: current genetic profile;Human Genetics;2021-10-05

4. Whole exome sequencing reveals pathogenic variants in MYO3A, MYO15A and COL9A3 and differential frequencies in ancestral alleles in hearing impairment genes among individuals from Cameroon;Human Molecular Genetics;2020-10-20

5. Whole exome sequencing identifies novel compound heterozygous pathogenic variants in the MYO15A gene leading to autosomal recessive non-syndromic hearing loss;Molecular Biology Reports;2020-07

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