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Hearing Disorders: HELP
Articles by Nicole C. Meyer
Based on 12 articles published since 2009
(Why 12 articles?)
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Between 2009 and 2019, N. Meyer wrote the following 12 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Review Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. 2011

Bazazzadegan, Niloofar / Sheffield, Abraham M / Sobhani, Masoomeh / Kahrizi, Kimia / Meyer, Nicole C / Van Camp, Guy / Hilgert, Nele / Abedini, Seyedeh Sedigheh / Habibi, Farkhondeh / Daneshi, Ahmad / Nishimura, Carla / Avenarius, Matthew R / Farhadi, Mohammad / Smith, Richard J H / Najmabadi, Hossein. ·Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. ·Am J Med Genet A · Pubmed #21484990.

ABSTRACT: Mutations in GJB2, encoding connexin 26 (Cx26), cause both autosomal dominant and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNA3 and DFNB1 loci, respectively. Most of the over 100 described GJB2 mutations cause ARNSHL. Only a minority has been associated with autosomal dominant hearing loss. In this study, we present two families with autosomal dominant nonsyndromic hearing loss caused by a novel mutation in GJB2 (p.Asp46Asn). Both families were ascertained from the same village in northern Iran consistent with a founder effect. This finding implicates the D46N missense mutation in Cx26 as a common cause of deafness in this part of Iran mandating mutation screening of GJB2 for D46N in all persons with hearing loss who originate from this geographic region.

2 Article Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran. 2015

Sloan-Heggen, Christina M / Babanejad, Mojgan / Beheshtian, Maryam / Simpson, Allen C / Booth, Kevin T / Ardalani, Fariba / Frees, Kathy L / Mohseni, Marzieh / Mozafari, Reza / Mehrjoo, Zohreh / Jamali, Leila / Vaziri, Saeideh / Akhtarkhavari, Tara / Bazazzadegan, Niloofar / Nikzat, Nooshin / Arzhangi, Sanaz / Sabbagh, Farahnaz / Otukesh, Hasan / Seifati, Seyed Morteza / Khodaei, Hossein / Taghdiri, Maryam / Meyer, Nicole C / Daneshi, Ahmad / Farhadi, Mohammad / Kahrizi, Kimia / Smith, Richard J H / Azaiez, Hela / Najmabadi, Hossein. ·Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA Department of Molecular Physiology & Biophysics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA. · Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. · Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA. · Genetics Counseling Center, Kerman Welfare Institution, Kerman, Iran. · Division of Pediatric Nephrology, Hazrat-e-Ali Asghar Educational & Treatment Center, Iran University of Medical Sciences, Tehran, Iran. · Meybod Genetics Research Center, Shahid Fiazbakhsh Rehabilitation Comprehensive Center, Welfare Organization, Yazd, Iran. · Genetic Counseling Center, Shiraz Welfare Institution, Shiraz, Iran. · Head and Neck Surgery Department and Research Center, Iran University of Medical Sciences, Tehran, Iran. · Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA Department of Molecular Physiology & Biophysics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, Iowa, USA. ·J Med Genet · Pubmed #26445815.

ABSTRACT: BACKGROUND: Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, with over 85 genes causally implicated in non-syndromic hearing loss (NSHL). This heterogeneity makes many gene-specific types of NSHL exceedingly rare. We sought to define the spectrum of autosomal recessive HHL in Iran by investigating both common and rarely diagnosed deafness-causing genes. DESIGN: Using a custom targeted genomic enrichment (TGE) panel, we simultaneously interrogated all known genetic causes of NSHL in a cohort of 302 GJB2-negative Iranian families. RESULTS: We established a genetic diagnosis for 67% of probands and their families, with over half of all diagnoses attributable to variants in five genes: SLC26A4, MYO15A, MYO7A, CDH23 and PCDH15. As a reflection of the power of consanguinity mapping, 26 genes were identified as causative for NSHL in the Iranian population for the first time. In total, 179 deafness-causing variants were identified in 40 genes in 201 probands, including 110 novel single nucleotide or small insertion-deletion variants and three novel CNV. Several variants represent founder mutations. CONCLUSION: This study attests to the power of TGE and massively parallel sequencing as a diagnostic tool for the evaluation of hearing loss in Iran, and expands on our understanding of the genetics of HHL in this country. Families negative for variants in the genes represented on this panel represent an excellent cohort for novel gene discovery.

3 Article PDZD7 and hearing loss: More than just a modifier. 2015

Booth, Kevin T / Azaiez, Hela / Kahrizi, Kimia / Simpson, Allen C / Tollefson, William T A / Sloan, Christina M / Meyer, Nicole C / Babanejad, Mojgan / Ardalani, Fariba / Arzhangi, Sanaz / Schnieders, Michael J / Najmabadi, Hossein / Smith, Richard J H. ·Department of Otolaryngology-Head Neck Surgery, Molecular Otolaryngology Renal Research Laboratories, University of Iowa, Iowa City, Iowa. · Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. · Department of Biomedical Engineering, University of Iowa, Iowa City, Iowa. ·Am J Med Genet A · Pubmed #26416264.

ABSTRACT: Deafness is the most frequent sensory disorder. With over 90 genes and 110 loci causally implicated in non-syndromic hearing loss, it is phenotypically and genetically heterogeneous. Here, we investigate the genetic etiology of deafness in four families of Iranian origin segregating autosomal recessive non-syndromic hearing loss (ARNSHL). We used a combination of linkage analysis, homozygosity mapping, and a targeted genomic enrichment platform to simultaneously screen 90 known deafness-causing genes for pathogenic variants. Variant segregation was confirmed by Sanger sequencing. Linkage analysis and homozygosity mapping showed segregation with the DFNB57 locus on chromosome 10 in two families. Targeted genomic enrichment with massively parallel sequencing identified causal variants in PDZD7: a homozygous missense variant (p.Gly103Arg) in one family and compound heterozygosity for missense (p.Met285Arg) and nonsense (p.Tyr500Ter) variants in the second family. Screening of two additional families identified two more variants: (p.Gly228Arg) and (p.Gln526Ter). Variant segregation with the hearing loss phenotype was confirmed in all families by Sanger sequencing. The missense variants are predicted to be deleterious, and the two nonsense mutations produce null alleles. This report is the first to show that mutations in PDZD7 cause ARNSHL, a finding that offers addition insight into the USH2 interactome. We also describe a novel likely disease-causing mutation in CIB2 and illustrate the complexity associated with gene identification in diseases that exhibit large genetic and phenotypic heterogeneity.

4 Article TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. 2014

Azaiez, Hela / Booth, Kevin T / Bu, Fengxiao / Huygen, Patrick / Shibata, Seiji B / Shearer, A Eliot / Kolbe, Diana / Meyer, Nicole / Black-Ziegelbein, E Ann / Smith, Richard J H. ·Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa. ·Hum Mutat · Pubmed #24729539.

ABSTRACT: Hereditary hearing loss is extremely heterogeneous. Over 70 genes have been identified to date, and with the advent of massively parallel sequencing, the pace of novel gene discovery has accelerated. In a family segregating progressive autosomal-dominant nonsyndromic hearing loss (NSHL), we used OtoSCOPE® to exclude mutations in known deafness genes and then performed segregation mapping and whole-exome sequencing to identify a unique variant, p.Ser178Leu, in TBC1D24 that segregates with the hearing loss phenotype. TBC1D24 encodes a GTPase-activating protein expressed in the cochlea. Ser178 is highly conserved across vertebrates and its change is predicted to be damaging. Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, syndromic hearing impairment associated with onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS syndrome), and a wide range of epileptic disorders.

5 Article A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran. 2012

Babanejad, Mojgan / Fattahi, Zohreh / Bazazzadegan, Niloofar / Nishimura, Carla / Meyer, Nicole / Nikzat, Nooshin / Sohrabi, Elahe / Najmabadi, Amin / Jamali, Peyman / Habibi, Farkhonde / Smith, Richard J H / Kahrizi, Kimia / Najmabadi, Hossein. ·Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. ·Am J Med Genet A · Pubmed #22903915.

ABSTRACT: Hearing loss is the most common sensory disorder worldwide and affects 1 of every 500 newborns. In developed countries, at least 50% of cases are genetic, most often resulting in nonsyndromic deafness (70%), which is usually autosomal recessive (∼80%). Although the cause of hearing loss is heterogeneous, mutations in GJB2 gene at DFNB1 locus are the major cause of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations. Our previous study showed that mutations of GJB2 gene do not contribute to the major genetic load of deafness in the Iranian population (∼16%). Therefore, to define the importance of other genes in contributing to an ARNSHL phenotype in the Iranian population, we used homozygosity mapping to identify regions of autozygosity-by-descent in 144 families which two or more progeny had ARNSHL but were negative for GJB2 gene mutations. Using flanking or intragenic short-tandem repeat markers for 33 loci we identified 33 different homozygous variations in 10 genes, of which 9 are novel. In aggregate, these data explain ∼40% of genetic background of ARNHSL in the Iranian population.

6 Article The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study. 2012

Bazazzadegan, Niloofar / Nikzat, Nooshin / Fattahi, Zohreh / Nishimura, Carla / Meyer, Nicole / Sahraian, Shima / Jamali, Payman / Babanejad, Mojgan / Kashef, Atie / Yazdan, Hilda / Sabbagh Kermani, Farahnaz / Taghdiri, Maryam / Azadeh, Batool / Mojahedi, Faezeh / Khoshaeen, Atefeh / Habibi, Haleh / Reyhanifar, Farahnaz / Nouri, Narges / Smith, Richard J H / Kahrizi, Kimia / Najmabadi, Hossein. ·Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. ·Int J Pediatr Otorhinolaryngol · Pubmed #22695344.

ABSTRACT: OBJECTIVE: Mutations in GJB2, encoding connexin 26 (CX26), are causally related to autosomal recessive form of non-syndromic hearing loss (NSHL) at the DFNB1 locus and autosomal dominant NSHL at the DFNA3 locus. In this study, we investigated the prevalence of GJB2 mutations in the Iranian deaf population. METHODS: A total of 2322 deaf probands presenting the ethnically diverse Iranian population were screened for variants in GJB2. All persons were first screened for the c.35delG mutation, as this variant is the most prevalent GJB2-deafness causing mutation in the Iranian population. In all persons carrying zero or one c.35delG allele, exons 1 and 2 were then sequenced. RESULTS: In total, 374 (~16%) families segregated GJB2-related deafness caused by 45 different mutations and 5 novel variants. The c.35delG mutation was most commonly identified and accounts for ~65% of the GJB2 mutations found in population studied. CONCLUSION: Our data also show that there is a gradual decrease in the frequency of the c.35delG mutation and of GJB2-related deafness in general in a cline across Iran extending from the northwest to southeast.

7 Article Functional variants in NOS1 and NOS2A are not associated with progressive hearing loss in Ménière's disease in a European Caucasian population. 2011

Gazquez, Irene / Lopez-Escamez, Jose A / Moreno, Antonia / Campbell, Colleen A / Meyer, Nicole C / Carey, John P / Minor, Lloyd B / Gantz, Bruce J / Hansen, Marlan R / Della Santina, Charles C / Aran, Ismael / Soto-Varela, Andres / Santos, Sofia / Batuecas, Angel / Perez-Garrigues, Herminio / Lopez-Nevot, Alicia / Smith, Richard J H / Lopez-Nevot, Miguel A. ·Otology and Neurotology Group CTS495, GENYO, Centro de Genómica e Investigación Oncológica-Pfizer, Universidad de Granada, Junta de Andalucía, Granada, Spain. ·DNA Cell Biol · Pubmed #21612410.

ABSTRACT: Hearing loss in Ménière's disease (MD) is associated with loss of spiral ganglion neurons and hair cells. In a guinea pig model of endolymphatic hydrops, nitric oxide synthases (NOS) and oxidative stress mediate loss of spiral ganglion neurons. To test the hypothesis that functional variants of NOS1 and NOS2A are associated with MD, we genotyped three functional variants of NOS1 (rs41279104, rs2682826, and a cytosine-adenosine microsatellite repeat in exon 1f) and the CCTTT repeat in the promoter of NOS2A gene (rs3833912) in two independent MD sets (273 patients in total) and 550 controls. A third cohort of American patients was genotyped as replication cohort for the CCTTT repeat. Neither allele nor genotype frequencies of rs41279104 and rs2682826 were associated with MD, although longer alleles of the cytosine-adenosine microsatellite repeat were marginally significant (corrected p = 0.05) in the Mediterranean cohort but not in a second Galicia cohort. Shorter numbers of the CCTTT repeat in NOS2A were significantly more frequent in Galicia controls (OR = 0.37 [CI, 0.18-0.76], corrected p = 0.04), but this finding could not be replicated in Mediterranean or American case-control populations. Meta-analysis did not support an association between CCTTT repeats and risk for MD. Severe hearing loss (>75 dB) was also not associated with any functional variants studied. Functional variants of NOS1 and NOS2A do not confer susceptibility for MD.

8 Article DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. 2011

Hildebrand, Michael S / Morín, Matías / Meyer, Nicole C / Mayo, Fernando / Modamio-Hoybjor, Silvia / Mencía, Angeles / Olavarrieta, Leticia / Morales-Angulo, Carmelo / Nishimura, Carla J / Workman, Heather / DeLuca, Adam P / del Castillo, Ignacio / Taylor, Kyle R / Tompkins, Bruce / Goodman, Corey W / Schrauwen, Isabelle / Wesemael, Maarten Van / Lachlan, K / Shearer, A Eliot / Braun, Terry A / Huygen, Patrick L M / Kremer, Hannie / Van Camp, Guy / Moreno, Felipe / Casavant, Thomas L / Smith, Richard J H / Moreno-Pelayo, Miguel A. ·Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, IA 52242, USA. ·Hum Mutat · Pubmed #21520338.

ABSTRACT: The prevalence of DFNA8/DFNA12 (DFNA8/12), a type of autosomal dominant nonsyndromic hearing loss (ADNSHL), is unknown as comprehensive population-based genetic screening has not been conducted. We therefore completed unbiased screening for TECTA mutations in a Spanish cohort of 372 probands from ADNSHL families. Three additional families (Spanish, Belgian, and English) known to be linked to DFNA8/12 were also included in the screening. In an additional cohort of 835 American ADNSHL families, we preselected 73 probands for TECTA screening based on audiometric data. In aggregate, we identified 23 TECTA mutations in this process. Remarkably, 20 of these mutations are novel, more than doubling the number of reported TECTA ADNSHL mutations from 13 to 33. Mutations lie in all domains of the α-tectorin protein, including those for the first time identified in the entactin domain, as well as the vWFD1, vWFD2, and vWFD3 repeats, and the D1-D2 and TIL2 connectors. Although the majority are private mutations, four of them-p.Cys1036Tyr, p.Cys1837Gly, p.Thr1866Met, and p.Arg1890Cys-were observed in more than one unrelated family. For two of these mutations founder effects were also confirmed. Our data validate previously observed genotype-phenotype correlations in DFNA8/12 and introduce new correlations. Specifically, mutations in the N-terminal region of α-tectorin (entactin domain, vWFD1, and vWFD2) lead to mid-frequency NSHL, a phenotype previously associated only with mutations in the ZP domain. Collectively, our results indicate that DFNA8/12 hearing loss is a frequent type of ADNSHL.

9 Article The prevalence of mitochondrial mutations associated with aminoglycoside-induced sensorineural hearing loss in an NICU population. 2011

Ealy, Megan / Lynch, Katherine A / Meyer, Nicole C / Smith, Richard J H. ·Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, Iowa 52242, USA. ·Laryngoscope · Pubmed #21495045.

ABSTRACT: Several mitochondrial DNA variants increase risk for developing sensorineural hearing loss following exposure to aminoglycoside antibiotics, a particular concern in the premature infant population, as many of these babies spend time in neonatal intensive care units and are treated with aminoglycosides. To determine the relative prevalence of five mitochondrial DNA variants in the 12S rRNA gene, MT-RNR1, we genotyped 703 neonatal intensive care unit patients and 1473 individuals from the general Iowa population. We found that the aggregate frequency of these variants (∼1.8%) was comparable between populations. Although no hearing loss was detected by newborn hearing screens in the at-risk patients, these neonatal intensive care unit graduates have an increased life-time risk for developing aminoglycoside-induced deafness.

10 Article Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. 2011

Borck, Guntram / Ur Rehman, Atteeq / Lee, Kwanghyuk / Pogoda, Hans-Martin / Kakar, Naseebullah / von Ameln, Simon / Grillet, Nicolas / Hildebrand, Michael S / Ahmed, Zubair M / Nürnberg, Gudrun / Ansar, Muhammad / Basit, Sulman / Javed, Qamar / Morell, Robert J / Nasreen, Nabilah / Shearer, A Eliot / Ahmad, Adeel / Kahrizi, Kimia / Shaikh, Rehan S / Ali, Rana A / Khan, Shaheen N / Goebel, Ingrid / Meyer, Nicole C / Kimberling, William J / Webster, Jennifer A / Stephan, Dietrich A / Schiller, Martin R / Bahlo, Melanie / Najmabadi, Hossein / Gillespie, Peter G / Nürnberg, Peter / Wollnik, Bernd / Riazuddin, Saima / Smith, Richard J H / Ahmad, Wasim / Müller, Ulrich / Hammerschmidt, Matthias / Friedman, Thomas B / Riazuddin, Sheikh / Leal, Suzanne M / Ahmad, Jamil / Kubisch, Christian. ·Institute of Human Genetics, University of Cologne, Cologne, Germany. guntram.borck@uk-koeln.de ·Am J Hum Genet · Pubmed #21255762.

ABSTRACT: By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13.31-q21.1 within the previously reported DFNB42 locus. Subsequent candidate gene sequencing identified a homozygous nonsense mutation (c.1135G>T [p.Glu379X]) in ILDR1 as the cause of hearing impairment. By analyzing additional consanguineous families with homozygosity at this locus, we detected ILDR1 mutations in the affected individuals of 10 more families from Pakistan and Iran. The identified ILDR1 variants include missense, nonsense, frameshift, and splice-site mutations as well as a start codon mutation in the family that originally defined the DFNB42 locus. ILDR1 encodes the evolutionarily conserved immunoglobulin-like domain containing receptor 1, a putative transmembrane receptor of unknown function. In situ hybridization detected expression of Ildr1, the murine ortholog, early in development in the vestibule and in hair cells and supporting cells of the cochlea. Expression in hair cell- and supporting cell-containing neurosensory organs is conserved in the zebrafish, in which the ildr1 ortholog is prominently expressed in the developing ear and neuromasts of the lateral line. These data identify loss-of-function mutations of ILDR1, a gene with a conserved expression pattern pointing to a conserved function in hearing in vertebrates, as underlying nonsyndromic prelingual sensorineural hearing impairment.

11 Article Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. 2009

Shearer, A Eliot / Hildebrand, Michael S / Webster, Jennifer A / Kahrizi, Kimia / Meyer, Nicole C / Jalalvand, Khadijeh / Arzhanginy, Sanaz / Kimberling, William J / Stephan, Dietrich / Bahlo, Melanie / Smith, Richard J H / Najmabadi, Hossein. ·Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa 52242, USA. ·Laryngoscope · Pubmed #19274735.

ABSTRACT: OBJECTIVES: To use clinical and genetic analyses to determine the mutation causing autosomal recessive nonsyndromic hearing loss (ARNSHL) segregating in two consanguineous Iranian families. STUDY DESIGN: Family study. METHODS: Members of each family received otologic and audiometric examination for the type and extent of hearing loss. Linkage mapping using Affymetrix 50K GeneChips and short tandem repeat (STRP) analysis localized the hearing loss in both families to the DFNB3 locus. Direct sequencing of the MYO15A gene was completed on affected members of both families. RESULTS: Family L-3165 segregated a novel homozygous missense mutation (c.6371G>A) that results in a p.R2124Q amino acid substitution in the myosin XVa protein, while family L-896 segregated a novel homozygous missense (c.6555C>T) mutation resulting in a p.P2073S amino acid change. CONCLUSIONS: These are the first MYO15A mutations reported to cause DFNB3 sensorineural hearing loss in the Iranian population. Like other mutations located in the myosin tail homology 4 (MyTH4) domain, the p.R2124Q and p.P2073S mutations are predicted to disrupt the function of the myosin XVa protein, which is integral to the mechanosensory activity of hair cells in the inner ear.

12 Minor A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus. 2010

Yang, T / Kahrizi, K / Bazazzadeghan, N / Meyer, N / Najmabadi, H / Smith, R J H. · ·Clin Genet · Pubmed #20447146.

ABSTRACT: -- No abstract --