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Hearing Disorders: HELP
Articles by Colleen A. Campbell
Based on 3 articles published since 2009
(Why 3 articles?)
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Between 2009 and 2019, Colleen A. Campbell wrote the following 3 articles about Hearing Disorders.
 
+ Citations + Abstracts
1 Article Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 2016

Sloan-Heggen, Christina M / Bierer, Amanda O / Shearer, A Eliot / Kolbe, Diana L / Nishimura, Carla J / Frees, Kathy L / Ephraim, Sean S / Shibata, Seiji B / Booth, Kevin T / Campbell, Colleen A / Ranum, Paul T / Weaver, Amy E / Black-Ziegelbein, E Ann / Wang, Donghong / Azaiez, Hela / Smith, Richard J H. ·Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA, 52242, USA. · Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, 52242, IA, USA. · Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA, 52242, USA. richard-smith@uiowa.edu. · Department of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, 52242, IA, USA. richard-smith@uiowa.edu. · Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, 52242, IA, USA. richard-smith@uiowa.edu. ·Hum Genet · Pubmed #26969326.

ABSTRACT: Hearing loss is the most common sensory deficit in humans, affecting 1 in 500 newborns. Due to its genetic heterogeneity, comprehensive diagnostic testing has not previously been completed in a large multiethnic cohort. To determine the aggregate contribution inheritance makes to non-syndromic hearing loss, we performed comprehensive clinical genetic testing with targeted genomic enrichment and massively parallel sequencing on 1119 sequentially accrued patients. No patient was excluded based on phenotype, inheritance or previous testing. Testing resulted in identification of the underlying genetic cause for hearing loss in 440 patients (39%). Pathogenic variants were found in 49 genes and included missense variants (49%), large copy number changes (18%), small insertions and deletions (18%), nonsense variants (8%), splice-site alterations (6%), and promoter variants (<1%). The diagnostic rate varied considerably based on phenotype and was highest for patients with a positive family history of hearing loss or when the loss was congenital and symmetric. The spectrum of implicated genes showed wide ethnic variability. These findings support the more efficient utilization of medical resources through the development of evidence-based algorithms for the diagnosis of hearing loss.

2 Article Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. 2015

Zong, Liang / Guan, Jing / Ealy, Megan / Zhang, Qiujing / Wang, Dayong / Wang, Hongyang / Zhao, Yali / Shen, Zhirong / Campbell, Colleen A / Wang, Fengchao / Yang, Ju / Sun, Wei / Lan, Lan / Ding, Dalian / Xie, Linyi / Qi, Yue / Lou, Xin / Huang, Xusheng / Shi, Qiang / Chang, Suhua / Xiong, Wenping / Yin, Zifang / Yu, Ning / Zhao, Hui / Wang, Jun / Wang, Jing / Salvi, Richard J / Petit, Christine / Smith, Richard J H / Wang, Qiuju. ·Department of Otolaryngology-Head and Neck Surgery, Institute of Otolaryngology, PLA General Hospital, Beijing, China. · Molecular Otolaryngology and Renal Research Laboratories and the Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA Department of Otolaryngology-Head & Neck Surgery, Stanford University School of Medicine, Stanford, California, USA. · Department of Otolaryngology-Head and Neck Surgery, Institute of Otolaryngology, PLA General Hospital, Beijing, China Beijing Institute of Otorhinolaryngology, Beijing Tongren Hospital, Capital Medical University, Beijing, China. · National Institute of Biological Sciences, Beijing, China. · Molecular Otolaryngology and Renal Research Laboratories and the Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City, Iowa, USA. · Department of Communicative Disorders & Sciences, Center for Hearing and Deafness, University at Buffalo, Buffalo, New York, USA. · Department of Radiology, PLA General Hospital, Beijing, China. · Department of Neurology, PLA General Hospital, Beijing, China. · Key Laboratory of Mental Health, Institute of Psychology, Chinese Academy of Sciences, Beijing, China. · BGI-Shenzhen, Shenzhen, China. · Unité de Génétique et Physiologie de l'Audition, Institut Pasteur, Collège de France, Paris, France. ·J Med Genet · Pubmed #25986071.

ABSTRACT: BACKGROUND: Auditory neuropathy spectrum disorder (ANSD) is a form of hearing loss in which auditory signal transmission from the inner ear to the auditory nerve and brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. For many cases of ANSD, the underlying molecular pathology and the site of lesion remain unclear. The X-linked form of the condition, AUNX1, has been mapped to Xq23-q27.3, although the causative gene has yet to be identified. METHODS: We performed whole-exome sequencing on DNA samples from the AUNX1 family and another small phenotypically similar but unrelated ANSD family. RESULTS: We identified two missense mutations in AIFM1 in these families: c.1352G>A (p.R451Q) in the AUNX1 family and c.1030C>T (p.L344F) in the second ANSD family. Mutation screening in a large cohort of 3 additional unrelated families and 93 sporadic cases with ANSD identified 9 more missense mutations in AIFM1. Bioinformatics analysis and expression studies support this gene as being causative of ANSD. CONCLUSIONS: Variants in AIFM1 gene are a common cause of familial and sporadic ANSD and provide insight into the expanded spectrum of AIFM1-associated diseases. The finding of cochlear nerve hypoplasia in some patients was AIFM1-related ANSD implies that MRI may be of value in localising the site of lesion and suggests that cochlea implantation in these patients may have limited success.

3 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.