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Genetics of deafness

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https://www.readbyqxmd.com/read/28926334/family-phenotypic-heterogeneity-caused-by-mitochondrial-dna-mutation-a3243g
#1
Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge...
August 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28915117/molecular-genetic-and-clinical-delineation-of-22-patients-with-congenital-hypogonadotropic-hypogonadism
#2
Kohei Aoyama, Haruo Mizuno, Tatsushi Tanaka, Takao Togawa, Yutaka Negishi, Kei Ohashi, Ikumi Hori, Masako Izawa, Takashi Hamajima, Shinji Saitoh
BACKGROUND: Congenital hypogonadotropic hypogonadism (CHH) is classified as Kallmann syndrome (KS) with anosmia/hyposmia or normosmic (n)CHH. Here, we investigated the genetic causes and phenotype-genotype correlations in Japanese patients with CHH. METHODS: We enrolled 22 Japanese patients with CHH from 21 families (18 patients with KS and 4 with nCHH) and analyzed 27 genes implicated in CHH by next-generation and Sanger sequencing. RESULTS: We detected 12 potentially pathogenic mutations in 11 families, with three having a mutation in ANOS1 (X-linked recessive); three and four having a mutation in FGFR1 and CHD7, respectively (autosomal dominant); and one having two TACR3 mutations (autosomal recessive)...
September 15, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28901477/simultaneous-multi%C3%A2-gene-mutation-screening-using-snpscan-in-patients-from-ethnic-minorities-with-nonsyndromic-hearing%C3%A2-impairment-in-northwest-china
#3
Shi-Hong Duan, Jian-Li Ma, Xiao-Long Yang, Yu-Fen Guo
The present study aimed to investigate the molecular etiology of nonsyndromic hearing impairment (HI) in hearing impaired populations of Hui, Tibetan, and Tu ethnicities in northwest China. A total of 283 unrelated subjects with HI who attended special education schools in northwest China were enrolled in the present study. Single-nucleotide polymorphisms (SNPs) in three common deafness‑related genes, gap junction protein β2 (GJB2), solute carrier family 26 member 4 (SLC26A4) and mitochondrially encoded 12S RNA (mtDNA12SrRNA), were detected using a SNPscan technique...
September 7, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28900111/carrier-re-sequencing-reveals-rare-but-benign-variants-in-recessive-deafness-genes
#4
Longxia He, Xiuhong Pang, Penghui Chen, Xiaowen Wang, Tao Yang, Hao Wu
For recessive Mendelian disorders, determining the pathogenicity of rare, non-synonymous variants in known causative genes can be challenging without expanded pedigrees and/or functional analysis. In this study, we proposed to establish a database of rare but benign variants in recessive deafness genes by systematic carrier re-sequencing. As a pilot study, 30 heterozygous carriers of pathogenic variants for deafness were identified from unaffected family members of 18 deaf probands. The entire coding regions of the corresponding genes were re-sequenced in those carriers by targeted next-generation sequencing or Sanger sequencing...
September 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28884028/spontaneous-coronary-artery-dissection-a-rare-manifestation-of-alport-syndrome
#5
Amornpol Anuwatworn, Prince Sethi, Kelly Steffen, Orvar Jonsson, Marian Petrasko
Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. AS has been associated with renal, auditory, and ocular diseases due to the presence of abnormal alpha chains of type IV collagen in the glomerulus, cochlea, cornea, lens, and retina. The resulting disorder includes hereditary nephritis, corneal opacities, anterior lenticonus, fleck retinopathy, temporal retinal thinning, and sensorineural deafness. Aortic and aortic valve pathologies have been described as extrarenal manifestations of AS in multiple case reports...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28871934/diffuse-palmoplantar-keratoderma-onychodystrophy-universal-hypotrichosis-and-cysts
#6
Tasleem Arif, Syed Suhail Amin, Mohammad Adil, Mohd Mohtashim
Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy...
July 2017: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/28862181/identification-of-a-novel-homozygous-mutation-in-transmembrane-channel-like-1-tmc1-gene-one-of-the-second-tier-hearing-loss-genes-after-gjb2-in-india
#7
Pawan Kumar Singh, Manju Ghosh, Shipra Sharma, Shivaram Shastri, Neerja Gupta, Madhumita Roy Chowdhury, Anuranjan Anand, Madhulika Kabra
BACKGROUND & OBJECTIVES: Hearing impairment is a common and heterogeneous sensory disorder in humans. Among about 90 genes, which are known to be associated with hearing impairment, mutations in the GJB2 (gap junction protein beta 2) gene are the most prevalent in individuals with hereditary hearing loss. Contribution of the other deafness-causing genes is relatively poorly understood. Here, we present our findings on two families with transmembrane channel like 1 (TMC1) gene variants of the 47 families with nonsyndromic hearing loss (NSHL) studied...
April 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28852025/intravenous-raav2-9-injection-for-murine-cochlear-gene-delivery
#8
Seiji B Shibata, Hidekane Yoshimura, Paul T Ranum, Alexander T Goodwin, Richard J H Smith
Gene therapy for genetic deafness is a promising approach by which to prevent hearing loss or to restore hearing after loss has occurred. Although a variety of direct approaches to introduce viral particles into the inner ear have been described, presumed physiological barriers have heretofore precluded investigation of systemic gene delivery to the cochlea. In this study, we sought to characterize systemic delivery of a rAAV2/9 vector as a non-invasive means of cochlear transduction. In wild-type neonatal mice (postnatal day 0-1), we show that intravenous injection of rAAV2/9 carrying an eGFP-reporter gene results in binaural transduction of inner hair cells, spiral ganglion neurons and vestibular hair cells...
August 29, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28841141/outcome-of-cochlear-implantation-in-prelingually-deafened-children-according-to-molecular-genetic-etiology
#9
Joo Hyun Park, Ah Reum Kim, Jin Hee Han, Seong Dong Kim, Shin Hye Kim, Ja-Won Koo, Seung Ha Oh, Byung Yoon Choi
OBJECTIVES: About 60% of Korean pediatric cochlear implantees could be genetically diagnosed (GD) and we previously reported that a substantial portion of undiagnosed cases by deafness gene panel sequencing were predicted to have a nongenetic or complex etiology. We aimed to compare the outcomes of cochlear implantation (CI) in GD and genetically undiagnosed (GUD) patients and attempted to determine CI outcomes according to etiology. DESIGN: Ninety-three pediatric cochlear implantees underwent molecular genetic testing...
September 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28835827/epilepsy-ataxia-sensorineural-deafness-tubulopathy-syndrome-in-a-european-child-with-kcnj10-mutations-a-case-report
#10
Antigone Papavasiliou, Katerina Foska, John Ioannou, Mato Nagel
BACKGROUND: Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous, non-European families. CASE REPORT: A European male of non-consanguineous birth, with early-onset, static ataxic motor disorder, intellectual disability and epilepsy, imitating cerebral palsy, presented with additional findings of renal tubulopathy, sensorineural deafness and normal neuroimaging leading to the diagnosis of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28821934/whole-exome-sequencing-to-identify-the-cause-of-congenital-sensorineural-hearing-loss-in-carriers-of-a-heterozygous-gjb2-mutation
#11
Thomas Parzefall, Alexandra Frohne, Martin Koenighofer, Andreas Kirchnawy, Berthold Streubel, Christian Schoefer, Klemens Frei, Trevor Lucas
Bi-allelic variations in the gap junction protein beta-2 (GJB2) gene cause up to 50% of cases of newborn hearing loss. Heterozygous pathogenic GJB2 variations are also fivefold overrepresented in idiopathic patient groups compared to the normal-hearing population. Whether hearing loss in this group is due to unidentified additional variations within GJB2 or variations in other deafness genes is unknown in most cases. Whole-exome sequencing offers an effective approach in the search for causative variations in patients with Mendelian diseases...
August 18, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/28790396/a-novel-missense-variant-in-the-nuclear-localization-signal-of-pou4f3-causes-autosomal-dominant-non-syndromic-hearing-loss
#12
Yin-Hung Lin, Yi-Hsin Lin, Ying-Chang Lu, Tien-Chen Liu, Chien-Yu Chen, Chuan-Jen Hsu, Pei-Lung Chen, Chen-Chi Wu
Autosomal dominant non-syndromic hearing loss (ADNSHL) is genetically heterogeneous with more than 35 genes identified to date. Using a massively parallel sequencing panel targeting 159 deafness genes, we identified a novel missense variant of POU4F3 (c.982A>G, p.Lys328Glu) which co-segregated with the deafness phenotype in a three-generation Taiwanese family with ADNSHL. This variant could be classified as a "pathogenic variant" according to the American College of Medical Genetics and Genomics guidelines...
August 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#13
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
October 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28729369/pigmentary-retinopathy-rod-cone-dysfunction-and-sensorineural-deafness-associated-with-a-rare-mitochondrial-trna-lys-m-8340g-a-gene-variant
#14
Jaidip S Gill, Steven A Hardy, Emma L Blakely, Sila Hopton, Andrea H Nemeth, Carl Fratter, Joanna Poulton, Robert W Taylor, Susan M Downes
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...
September 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28717663/refining-genotype-phenotype-correlation-in-alstr%C3%A3-m-syndrome-through-study-of-primary-human-fibroblasts
#15
Jian-Hua Chen, Tarekegn Geberhiwot, Timothy G Barrett, Richard Paisey, Robert K Semple
BACKGROUND: Alström syndrome (AS), featuring retinal dystrophy, neuronal deafness, cardiomyopathy, metabolic syndrome, and diffuse fibrosis, is caused by biallelic mutations in the centrosomal protein ALMS1. Genotype-phenotype correlation has been suggested without assessment of ALMS1 expression. METHODS: ALMS1 expression (real-time PCR and immunocytochemistry) and cilia formation (immunocytochemistry) were assessed in fibroblasts from deeply phenotyped volunteers diagnosed with AS recruited from a dedicated AS Service...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28717081/severe-glomerular-endothelial-injury-associated-with-a-short-d4z4-repeat-on-chromosome-4q35
#16
Satoshi Hibino, Asami Takeda, Ichizo Nishino, Naoyuki Iwata, Masaru Nakano, Kazuki Tanaka, Satoshi Yamakawa, Takuhito Nagai, Osamu Uemura
The short D4Z4 repeat on chromosome 4q35 is a confirmatory genetic cause of facioscapulohumeral muscular dystrophy (FSHD), which presents with no renal complications. We herein report a five-year-old girl previously diagnosed with Coat's-like retinopathy, deafness, and mental retardation, who was found to have early-onset, severe FSHD. Despite the absence of muscle weakness, a Southern blot analysis showed a short D4Z4 repeat on chromosome 4q35. She presented with steroid-resistant nephrotic syndrome, and her renal histopathological findings were severe glomerular endothelial injury, which is a new complication associated with this genetic abnormality...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28717060/clinical-data-analysis-of-genotypes-and-phenotypes-of-deafness-gene-mutations-in-newborns-a-retrospective-study
#17
Yating Du, Lihui Huang, Xueyao Wang, Qingjia Cui, Xiaohua Cheng, Liping Zhao, Tingting Ni
We retrospectively analyzed newborns with deafness gene mutations and summarized the relationship between genotype and phenotype to provide a basis for genetic counseling. We studied 582 subjects positive for deafness gene mutations that were treated in the otology outpatient department of Beijing Tongren Hospital, Capital Medical University, between April 2012 and April 2016. The subjects were divided into 3 categories: a diagnosed group (group A), which was further subdivided into subgroups A1 (homozygous and compound heterozygous GJB2 mutations) and A2 (homozygous and compound heterozygous SLC26A4 mutations); a drug-induced deafness group (group B, mitochondrial (Mt) gene mutations); and a mutation carrier group (group C), which was further subdivided into the subgroups C1 (GJB2 heterozygous mutations), C2 (SLC26A4 heterozygous mutations), C3 (GJB3 heterozygous mutations), and C4 (double gene mutations)...
July 17, 2017: Bioscience Trends
https://www.readbyqxmd.com/read/28705869/auditory-cortex-interneuron-development-requires-cadherins-operating-hair-cell-mechanoelectrical-transduction
#18
Baptiste Libé-Philippot, Vincent Michel, Jacques Boutet de Monvel, Sébastien Le Gal, Typhaine Dupont, Paul Avan, Christine Métin, Nicolas Michalski, Christine Petit
Many genetic forms of congenital deafness affect the sound reception antenna of cochlear sensory cells, the hair bundle. The resulting sensory deprivation jeopardizes auditory cortex (AC) maturation. Early prosthetic intervention should revive this process. Nevertheless, this view assumes that no intrinsic AC deficits coexist with the cochlear ones, a possibility as yet unexplored. We show here that many GABAergic interneurons, from their generation in the medial ganglionic eminence up to their settlement in the AC, express two cadherin-related (cdhr) proteins, cdhr23 and cdhr15, that form the hair bundle tip links gating the mechanoelectrical transduction channels...
July 25, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28705044/the-genetics-of-hair-cell-function-in-zebrafish
#19
Teresa Nicolson
Our ears are remarkable sensory organs, providing the important senses of balance and hearing. The complex structure of the inner ear, or 'labyrinth', along with the assorted neuroepithelia, have evolved to detect head movements and sounds with impressive sensitivity. The rub is that the inner ear is highly vulnerable to genetic lesions and environmental insults. According to National Institute of Health estimates, hearing loss is one of the most commonly inherited or acquired sensorineural diseases. To understand the causes of deafness and balance disorders, it is imperative to understand the underlying biology of the inner ear, especially the inner workings of the sensory receptors...
July 13, 2017: Journal of Neurogenetics
https://www.readbyqxmd.com/read/28704896/long-term-speech-perception-outcomes-of-cochlear-implantation-in-gap-junction-protein-beta-2-related-hearing-loss
#20
Sung Hee Kim, Rajendra Nepali, Myung Hoon Yoo, Kwang-Sun Lee, Jong Woo Chung
BACKGROUND AND OBJECTIVES: The mutation of the gap junction protein beta 2 (GJB2) gene is the predominant cause of autosomal recessive non-syndromic hearing loss. The purpose of this study was to evaluate the speech perception outcome after cochlear implantation according to the presence of a GJB2 mutation. SUBJECTS AND METHODS: During the period from March 2004 to February 2005, 38 patients underwent cochlear implantation at Asan Medical Center. Genetic factors and speech perception were evaluated in all subjects, and the patients were grouped according to the presence of a GJB2 mutation...
July 2017: Journal of Audiology & Otology
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