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[PMID]: 29037661
[Au] Autor:Donaldson TN; Jennings KT; Cherep LA; McNeela AM; Depreux FF; Jodelka FM; Hastings ML; Wallace DG
[Ad] Address:Northern Illinois University, Department of Psychology, DeKalb, IL 60115, United States.
[Ti] Title:Antisense oligonucleotide therapy rescues disruptions in organization of exploratory movements associated with Usher syndrome type 1C in mice.
[So] Source:Behav Brain Res;338:76-87, 2018 Feb 15.
[Is] ISSN:1872-7549
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Usher syndrome, Type 1C (USH1C) is an autosomal recessive inherited disorder in which a mutation in the gene encoding harmonin is associated with multi-sensory deficits (i.e., auditory, vestibular, and visual). USH1C (Usher) mice, engineered with a human USH1C mutation, exhibit these multi-sensory deficits by circling behavior and lack of response to sound. Administration of an antisense oligonucleotide (ASO) therapeutic that corrects expression of the mutated USH1C gene, has been shown to increase harmonin levels, reduce circling behavior, and improve vestibular and auditory function. The current study evaluates the organization of exploratory movements to assess spatial organization in Usher mice and determine the efficacy of ASO therapy in attenuating any such deficits. Usher and heterozygous mice received the therapeutic ASO, ASO-29, or a control, non-specific ASO treatment at postnatal day five. Organization of exploratory movements was assessed under dark and light conditions at two and six-months of age. Disruptions in exploratory movement organization observed in control-treated Usher mice were consistent with impaired use of self-movement and environmental cues. In general, ASO-29 treatment rescued organization of exploratory movements at two and six-month testing points. These observations are consistent with ASO-29 rescuing processing of multiple sources of information and demonstrate the potential of ASO therapies to ameliorate topographical disorientation associated with other genetic disorders.
[Mh] MeSH terms primary: Carrier Proteins/genetics
Exploratory Behavior/drug effects
Movement/drug effects
Oligonucleotides, Antisense/pharmacology
Usher Syndromes/physiopathology
[Mh] MeSH terms secundary: Animals
Behavior, Animal/drug effects
Carrier Proteins/metabolism
Male
Mice
Usher Syndromes/genetics
Usher Syndromes/metabolism
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Carrier Proteins); 0 (Oligonucleotides, Antisense); 0 (Ush1c protein, mouse)
[Em] Entry month:1802
[Cu] Class update date: 180207
[Lr] Last revision date:180207
[Js] Journal subset:IM
[Da] Date of entry for processing:171018
[St] Status:MEDLINE

  2 / 742 MEDLINE  
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[PMID]: 29204917
[Au] Autor:Alzhrani F; Alhussini R; Hudeib R; Alkaff T; Islam T; Alsanosi A
[Ad] Address:King Abdullah Ear Specialist Center (KAESC), College of Medicine, King Saud University, PO Box 245, Riyadh, 11411, Saudi Arabia. faalzhrani@ksu.edu.sa.
[Ti] Title:The outcome of cochlear implantation among children with genetic syndromes.
[So] Source:Eur Arch Otorhinolaryngol;275(2):365-369, 2018 Feb.
[Is] ISSN:1434-4726
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To assess the outcome and efficacy of cochlear implantation in children with genetic syndromes. METHOD: Study design: case-control study. SETTING: A cochlear implantation tertiary referral center. PATIENTS: All pediatric cochlear implantation recipients with Waardenburg syndrome, Usher syndrome, Dandy-Walker syndrome, or albinism. A control group was appropriately matched to the syndromic group with regard to age at implantation and duration of device use. INTERVENTION: Cochlear implantation. MAIN OUTCOME MEASURES: Subjects' auditory abilities, speech intelligibility, and pure tone thresholds were compared between the syndromic and non-syndromic group. RESULTS: A total of 25 subjects (13 syndromic and 12 non-syndromic) participated in the study. Neither auditory ability nor speech intelligibility scores differed significantly by group. The final PTA of both the groups showed normal-to-mild hearing loss: 26 dB HL in the syndromic group and 23 dB HL for the control group. CONCLUSIONS: Cochlear implant recipients with genetic syndromes achieved similar levels auditory perception and speech intelligibility as their peers with a genetic syndrome. The presence of any of the genetic syndromes described herein should not be a contraindication to cochlear implant provision, as it would have a positive impact on the patients' sensory perception and lifestyle.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180201
[Lr] Last revision date:180201
[St] Status:In-Process
[do] DOI:10.1007/s00405-017-4832-0

  3 / 742 MEDLINE  
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[PMID]: 29287864
[Au] Autor:Jia Y; Li X; Yang D; Xu Y; Guo Y; Li X
[Ad] Address:Department of Neurosurgery, Tianjin Medical University General Hospital, Tianjin, China.
[Ti] Title:Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing.
[So] Source:Int J Pediatr Otorhinolaryngol;104:186-190, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract:The current study aims to identify the pathogenic sites in a core pedigree of Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome sequencing (WES). Mutations were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing. Two pathogenic variations (c.849+2T>C and c.5994G>A) in MYO7A were successfully identified and individually separated from parents. One variant (c.849+2T>C) was nonsense mutation, causing the protein terminated in advance, and the other one (c.5994G>A) located near the boundary of exon could cause aberrant splicing. This study provides a meaningful exploration for identification of clinical core genetic pedigrees.
[Mh] MeSH terms primary: Myosins/genetics
Usher Syndromes/genetics
[Mh] MeSH terms secundary: Adolescent
Child
Codon, Nonsense
Female
Heterozygote
Humans
Male
Mutation
Pedigree
Polymerase Chain Reaction
Whole Exome Sequencing/methods
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Codon, Nonsense); EC 3.6.4.1 (Myosins); EC 3.6.4.1 (myosin VIIa)
[Em] Entry month:1801
[Cu] Class update date: 180116
[Lr] Last revision date:180116
[Js] Journal subset:IM
[Da] Date of entry for processing:171231
[St] Status:MEDLINE

  4 / 742 MEDLINE  
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[PMID]: 29287847
[Au] Autor:Kooshavar D; Razipour M; Movasat M; Keramatipour M
[Ad] Address:Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
[Ti] Title:Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.
[So] Source:Int J Pediatr Otorhinolaryngol;104:10-13, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract:BACKGROUND: Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder. METHODS: Target region capture in the genes of interest, followed by next generation sequencing (NGS) was used to determine the causative mutations in one of the probands. Then segregation analysis in the pedigree was conducted using PCR-Sanger sequencing. RESULTS: Targeted NGS detected a novel homozygous nonsense variant c.4513G > T (p.Glu1505Ter) in MYO7A. The variant is segregating in the pedigree with an autosomal recessive pattern. CONCLUSION: In this study, a novel stop gained variant c.4513G > T (p.Glu1505Ter) in MYO7A was found in an Iranian pedigree with two affected members with USH type 1. Bioinformatic as well as pedigree segregation analyses were in line with pathogenic nature of this variant. Targeted NGS panel was showed to be an efficient method for mutation detection in hereditary disorders with locus heterogeneity.
[Mh] MeSH terms primary: High-Throughput Nucleotide Sequencing/methods
Myosins/genetics
Usher Syndromes/genetics
[Mh] MeSH terms secundary: Codon, Nonsense
Consanguinity
Female
Homozygote
Humans
Iran
Male
Mutation
Pedigree
Phenotype
Polymerase Chain Reaction
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Codon, Nonsense); EC 3.6.4.1 (Myosins); EC 3.6.4.1 (myosin VIIa)
[Em] Entry month:1801
[Cu] Class update date: 180116
[Lr] Last revision date:180116
[Js] Journal subset:IM
[Da] Date of entry for processing:171231
[St] Status:MEDLINE

  5 / 742 MEDLINE  
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[PMID]: 28979619
[Au] Autor:Daoudi C; Boutimzine N; Haouzi SE; Lezrek O; Tachfouti S; Lezrek M; Laghmari M; Daoudi R
[Ad] Address:Université Mohammed V Souissi, Service d'Ophtalmologie A de l'Hôpital des Spécialités, Centre Hospitalier Universitaire, Rabat, Maroc.
[Ti] Title:Le syndrome d'Usher: à propos d'une observation. [Usher syndrome: about a case].
[So] Source:Pan Afr Med J;27:217, 2017.
[Is] ISSN:1937-8688
[Cp] Country of publication:Uganda
[La] Language:fre
[Ab] Abstract:Usher syndrome is a genetic disease resulting in double sensory deprivation (auditory and visual) called deafblindness. We report the case of a 50-year old patient, born to consanguineous parents, presenting with congenital deafness associated with normal vestibular function and pigmentary retinopathy responsible for decreased bilateral visual acuity occurred at the age of 16 years. This association composes Usher syndrome type 2, a rare autosomal recessive disorder. Cataract surgery allowed visual acuity improvement in this patient.
[Mh] MeSH terms primary: Cataract Extraction/methods
Cataract/etiology
Usher Syndromes/diagnosis
[Mh] MeSH terms secundary: Humans
Male
Middle Aged
Usher Syndromes/physiopathology
Visual Acuity
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171023
[Lr] Last revision date:171023
[Js] Journal subset:IM
[Da] Date of entry for processing:171006
[St] Status:MEDLINE
[do] DOI:10.11604/pamj.2017.27.217.5460

  6 / 742 MEDLINE  
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[PMID]: 28729369
[Au] Autor:Gill JS; Hardy SA; Blakely EL; Hopton S; Nemeth AH; Fratter C; Poulton J; Taylor RW; Downes SM
[Ad] Address:John Radcliffe Hospital, Oxford, UK.
[Ti] Title:Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA (m.8340G>A) gene variant.
[So] Source:Br J Ophthalmol;101(9):1298-1302, 2017 Sep.
[Is] ISSN:1468-2079
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND/AIM: The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with sensorineural deafness who presented to the eye clinic with nyctalopia, retinal pigmentary changes and bilateral cortical cataracts. METHODS: The patient was examined clinically and investigated with autofluorescence, full-field electroretinography, electro-oculogram and dark adaptometry. Sequencing of the mitochondrial genome in blood and muscle tissue was followed by histochemical and biochemical analyses together with single fibre studies of a muscle biopsy to confirm a mitochondrial aetiology. RESULTS: Electrophysiology, colour testing and dark adaptometry showed significant photoreceptor dysfunction with macular involvement. Sequencing the complete mitochondrial genome revealed a rare mitochondrial tRNA ( ) gene variant-m.8340G>A-which was heteroplasmic in blood (11%) and skeletal muscle (65%) and cosegregated with cytochrome oxidase-deficient fibres in single-fibre studies. CONCLUSION: We confirm the pathogenicity of the rare mitochondrial m.8340G>A variant the basis of single-fibre segregation studies and its association with an expanded clinical phenotype. Our case expands the phenotypic spectrum of diseases associated with mitochondrial tRNA point mutations, highlighting the importance of considering a mitochondrial diagnosis in similar cases presenting to the eye clinic and the importance of further genetic testing if standard mutational analysis does not yield a result.
[Mh] MeSH terms primary: DNA, Mitochondrial/genetics
Photoreceptor Cells, Vertebrate/pathology
Point Mutation
RNA, Transfer, Lys/genetics
Thymidine Kinase/genetics
Usher Syndromes/genetics
[Mh] MeSH terms secundary: Adult
DNA Mutational Analysis
Electron Transport Complex IV/metabolism
Electrooculography
Electroretinography
Humans
Male
Mitochondria, Muscle/enzymology
Mitochondria, Muscle/genetics
Mitochondria, Muscle/pathology
Muscle, Skeletal/enzymology
Muscle, Skeletal/pathology
Optical Imaging
Succinate Dehydrogenase/metabolism
Usher Syndromes/diagnosis
Usher Syndromes/enzymology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (DNA, Mitochondrial); 0 (RNA, Transfer, Lys); EC 1.3.99.1 (Succinate Dehydrogenase); EC 1.9.3.1 (Electron Transport Complex IV); EC 2.7.1.- (thymidine kinase 2); EC 2.7.1.21 (Thymidine Kinase)
[Em] Entry month:1709
[Cu] Class update date: 170908
[Lr] Last revision date:170908
[Js] Journal subset:IM
[Da] Date of entry for processing:170722
[St] Status:MEDLINE
[do] DOI:10.1136/bjophthalmol-2017-310370

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[PMID]: 28688563
[Au] Autor:He X; Peng Q; Li S; Zhu P; Wu C; Rao C; Lin J; Lu X
[Ad] Address:Department of Neonates, Dongguan Children's Hospital, Dongguan, Guangdong, China; Department of Medical and Molecular Genetics, Dongguan Institute of Pediatrics, Dongguan, Guangdong, China.
[Ti] Title:A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.
[So] Source:Int J Pediatr Otorhinolaryngol;99:40-43, 2017 Aug.
[Is] ISSN:1872-8464
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract:OBJECTIVES: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness. METHODS: The targeted capture of 159 known deafness genes and next-generation sequencing were performed to study the genetic causes of hearing loss in the Chinese family. Sanger sequencing was employed to verify the variant mutations in members of this family. RESULTS: The proband harbored two mutations in the MYO7A gene in the form of compound heterozygosity. She was found to be heterozygous for a novel insertion mutation c.3847_3848 ins TCTG (p.N1285LfsX24) in exon 30 and for the known mutation c.2239_2240delAG (p.R747S fsX16)in exon 19. The novel mutation was absent in the 1000 Genomes Project. These variants were carried in the heterozygous state by the parents and were therefore co-segregated with the genetic disease. Clinical re-assessment, including detailed audiologic and ocular examinations, revealed congenital deafness and retinitis pigmentosa in the proband. Collectively, the combination of audiometric, ophthalmologic and genetic examinations successfully confirmed the phenotype of Usher syndrome type 1 (USH1). CONCLUSION: This study demonstrates that the novel mutation c.3847_3848insTCTG (p. N1285LfsX24) in compound heterozygosity with c.2239_2240delAG in the MYO7A gene is the main cause of USH1 in the proband. Our study expands the mutational spectrum of MYO7A and provides a foundation for further investigations elucidating the MYO7A-related mechanisms of USH1.
[Mh] MeSH terms primary: Myosins/genetics
Usher Syndromes/genetics
[Mh] MeSH terms secundary: Adult
Asian Continental Ancestry Group/genetics
Audiometry
Child
DNA Mutational Analysis
Family
Female
Hearing Loss, Sensorineural
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Male
Mutation
Pedigree
Phenotype
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:EC 3.6.4.1 (Myosins); EC 3.6.4.1 (myosin VIIa)
[Em] Entry month:1709
[Cu] Class update date: 170926
[Lr] Last revision date:170926
[Js] Journal subset:IM
[Da] Date of entry for processing:170710
[St] Status:MEDLINE

  8 / 742 MEDLINE  
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[PMID]: 28653555
[Au] Autor:Magliulo G; Iannella G; Gagliardi S; Iozzo N; Plateroti R; Mariottini A; Torricelli F
[Ad] Address:1 Organi di Senso Department, University "la Sapienza," Rome, Italy.
[Ti] Title:Usher's Syndrome Type II: A Comparative Study of Genetic Mutations and Vestibular System Evaluation.
[So] Source:Otolaryngol Head Neck Surg;157(5):853-860, 2017 Nov.
[Is] ISSN:1097-6817
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Objective Usher's syndrome type II (USH2) is characterized by moderate to profound congenital hearing loss, later onset of retinitis pigmentosa, and normal vestibular function. Recently, a study investigating the vestibular function of USH2 patients demonstrated a pathologic response to vestibular tests. In this cross-sectional study we performed vestibular tests of a group patients with genetic diagnosis of USH2 syndrome to demonstrate if vestibular damage is present in USH2 patients. Study Design Cross-sectional study. Setting Tertiary referral center. Subjects and Methods Mutated genes of 7 patients with a clinical diagnosis of USH2 were evaluated. Vestibular function was investigated by audiometry, Fitzgerald-Hallpike caloric vestibular testing, cervical vestibular evoked myogenic potentials (C-VEMPs), ocular vestibular evoked myogenic potentials (O-VEMPs), and video head impulse test (v-HIT). Results Genetic tests confirmed the USH2 diagnosis in 5 of 7 patients examined, with 1 patient reporting a unique mutation on genetic tests. Four (80%) of the 5 patients with a genetic diagnosis of USH2 showed pathological O-VEMPs. Two patients (40%) reported bilateral absent or abnormal values of C-VEMPs. The superior semicircular canal presented a significant deficit in 2 (40%) patients. The same 2 cases showed a pathologic response of the v-HIT of the horizontal semicircular canal. Finally, the posterior semicircular canal presented a significant deficit in 4 (40.0%) patients. Conclusion A vestibular evaluation with vestibular evoked myogenic potentials and v-HIT seems to identify latent damage to the vestibular receptors of USH2 patients.
[Mh] MeSH terms primary: Extracellular Matrix Proteins/genetics
Receptors, G-Protein-Coupled/genetics
Usher Syndromes/genetics
Usher Syndromes/physiopathology
[Mh] MeSH terms secundary: Adolescent
Adult
Cross-Sectional Studies
Female
Humans
Italy
Male
Middle Aged
Mutation
Vestibular Function Tests
[Pt] Publication type:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Name of substance:0 (Extracellular Matrix Proteins); 0 (GPR98 protein, human); 0 (Receptors, G-Protein-Coupled); 0 (USH2A protein, human)
[Em] Entry month:1711
[Cu] Class update date: 171106
[Lr] Last revision date:171106
[Js] Journal subset:IM
[Da] Date of entry for processing:170628
[St] Status:MEDLINE
[do] DOI:10.1177/0194599817715235

  9 / 742 MEDLINE  
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[PMID]: 28653131
[Au] Autor:Ahmed HM; Hazen SL
[Ad] Address:Preventive Cardiology and Rehabilitation, Cleveland Clinic, Heart and Vascular Institute, 9500 Euclid Ave, Desk JB1, Cleveland, OH, 44195, USA. ahmedh3@ccf.org.
[Ti] Title:Novel Risk Stratification Assays for Acute Coronary Syndrome.
[So] Source:Curr Cardiol Rep;19(8):69, 2017 Aug.
[Is] ISSN:1534-3170
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE OF REVIEW: Since identification of aspartate aminotransferase as the first cardiac biomarker in the 1950s, there have been a number of new markers used for myocardial damage detection over the decades. There have also been several generations of troponin assays, each with progressively increasing sensitivity for troponin detection. Accordingly, the "standard of care" for myocardial damage detection continues to change. The purpose of this paper is to review the clinical utility, biological mechanisms, and predictive value of these various biomarkers in contemporary clinical studies. RECENT FINDINGS: As of this writing, a fifth "next" generation troponin assay has now been cleared by the US Food and Drug Administration for clinical use in the USA for subjects presenting with suspected acute coronary syndromes. Use of these high-sensitivity assays has allowed for earlier detection of myocardial damage as well as greater negative predictive value for infarction after only one or two serial measurements. Recent algorithms utilizing these assays have allowed for more rapid rule-out of myocardial infarction in emergency department settings. In this review, we discuss novel assays available for the risk assessment of subjects presenting with chest pain, including both the "next generation" cardiac troponin assays as well as other novel biomarkers. We review the biological mechanisms for these markers, and explore the positive and negative predictive value of the assays in clinical studies, where reported. We also discuss the potential use of these new markers within the context of future clinical care in the modern era of higher sensitivity troponin testing. Finally, we discuss advances in new platforms (e.g., mass spectrometry) that historically have not been considered for rapid in vitro diagnostic capabilities, but that are taking a larger role in clinical diagnostics, and whose prognostic value and power promise to usher in new markers with potential for future clinical utility in acute coronary syndrome.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1706
[Cu] Class update date: 170803
[Lr] Last revision date:170803
[St] Status:In-Process
[do] DOI:10.1007/s11886-017-0880-8

  10 / 742 MEDLINE  
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[PMID]: 28642064
[Au] Autor:Rudman JR; Kabahuma RI; Bressler SE; Feng Y; Blanton SH; Yan D; Liu XZ
[Ad] Address:Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
[Ti] Title:The genetic basis of deafness in populations of African descent.
[So] Source:J Genet Genomics;44(6):285-294, 2017 Jun 20.
[Is] ISSN:1673-8527
[Cp] Country of publication:China
[La] Language:eng
[Ab] Abstract:Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein ß 2) and GJB6 (gap-junction protein ß 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. Recent use of next-generation sequencing (NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. Researchers also recently described a dominant mutation in MYO3a in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost- and time-effective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1706
[Cu] Class update date: 170703
[Lr] Last revision date:170703
[St] Status:In-Process


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