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Genetics of deafness

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https://www.readbyqxmd.com/read/29774890/genetic-and-clinical-aspects-of-wolfram-syndrome-1-a-severe-neurodegenerative-disease
#1
REVIEW
Luciana Rigoli, Placido Bramanti, Chiara Di Bella, Filippo De Luca
Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other abnormalities. WS1 usually results in death before the age of 50 years. The pathogenesis of WS1 is ascribed to mutations of human WFS1 gene on chromosome 4p encoding a transmembrane protein called wolframin which has physiological functions in membrane trafficking, secretion, processing, and/or regulation of ER calcium homeostasis. Different types of WFS1 mutations have been identified, and some of these have been associated with a dominant, severe type of WS...
May 2018: Pediatric Research
https://www.readbyqxmd.com/read/29766469/proteinuric-glomerulopathy-in-an-adolescent-with-a-distal-partial-trisomy-chromosome-1
#2
Takaya Sasaki, Masahiro Okabe, Takeshi Tosaki, Yu Honda, Masahiro Ishikawa, Nobuo Tsuboi, Takashi Yokoo
We report a case of distal partial trisomy 1 from q32.1 to 41 that have exhibited proteinuric glomerulopathy. The patient was a 17-year-old adolescent with clinical features of low birth weight, mild mental retardation and mild deafness, from the birth. He exhibited non-nephrotic range proteinuria with the mild obesity since the age of sixteen. Image studies did not reveal morphological abnormalities of the kidneys. Renal biopsy findings showed no definitive evidence of primary glomerular diseases, and were characterized by a very low glomerular density, glomerulomegaly and focal effacement of podocyte foot processes...
May 16, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29752989/a-novel-pathogenic-variant-in-the-marveld2-gene-causes-autosomal-recessive-non-syndromic-hearing-loss-in-an-iranian-family
#3
Afsaneh Taghipour-Sheshdeh, Fatemeh Nemati-Zargaran, Narges Zarepour, Parisa Tahmasebi, Nader Saki, Mohammad Amin Tabatabaiefar, Javad Mohammadi-Asl, Morteza Hashemzadeh-Chaleshtori
BACKGROUND AND AIMS: Hearing loss (HL) is the most common sensorineural disorder and one of the most common human defects. HL can be classified according to main criteria, including: the site (conductive, sensorineural and mixed), onset (pre-lingual and post-lingual), accompanying signs and symptoms (syndromic and non-syndromic), severity (mild, moderate, severe and profound) and mode of inheritance (Autosomal recessive, autosomal dominant, X-linked and mitochondrial). Autosomal recessive non-syndromic HL (ARNSHL) forms constitute a major share of the HL cases...
May 9, 2018: Genomics
https://www.readbyqxmd.com/read/29741433/familial-nonsyndromic-hearing-loss-with-incomplete-partition-type-ii-caused-by-novel-dspp-gene-mutations
#4
Wan-Xin Li, Hong Peng, Le Yang, Qing-Qing Hao, Wei Sun, Fei Ji, Wei-Wei Guo, Shi-Ming Yang
BACKGROUND: Familial nonsyndromic hearing loss (NSHL) with incomplete partition type II (IP-II) is a very rare condition. AIMS/OBJECTIVES: To determine the audiological feature, inheritance patterns and genetic etiology of familial NSHL with IP-II in a Chinese family with eight family members. MATERIAL AND METHODS: Clinical data were collected from all eight family members, selected deafness genes were sequenced in proband and whole genome sequencing of seven family members was performed...
May 9, 2018: Acta Oto-laryngologica
https://www.readbyqxmd.com/read/29726933/genetic-landscape-of-auditory-dysfunction
#5
Michael R Bowl, S D M Brown
Over the past 25 years, human and mouse genetics research together has identified several hundred genes essential for mammalian hearing, leading to a greater understanding of the molecular mechanisms underlying auditory function. However, from the number of still as yet uncloned human deafness loci and the findings of large-scale mouse mutant screens, it is clear we are still far from identifying all of the genes critical for auditory function. In particular, while we have made great progress in understanding the genetic bases of congenital and early-onset hearing loss, we have only just begun to elaborate upon the genetic landscape of age-related hearing loss...
May 2, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29726667/-kallmann-syndrome-with-deafness-caused-by-sox10-mutation-advances-in-research
#6
REVIEW
Xi Zhou, Wei-Wei Li, Qiu-Yue Wu, Mao-Mao Yu, Xin-Yi Xia
The transcription factor SOX10, as a major actor in the development of the neural crest, plays a key role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation. Abnormalities of neural crest development in humans lead to a number of genetic diseases known as neurocristopathies or neural crest disorders. The mutation of SOX10 can cause Kallmann syndrome (KS), which is a clinically and genetically heterogeneous condition and defined by the association between anosmia and hypogonadotropic hypogonadism due to incomplete migration of neuroendocrine gonadotropin-releasing hormone (GnRH) cells along the olfactory, vomeronasal, and terminal nerves...
September 2017: Zhonghua Nan Ke Xue, National Journal of Andrology
https://www.readbyqxmd.com/read/29725771/distal-renal-tubular-acidosis-clinical-manifestations-in-patients-with-different-underlying-gene-mutations
#7
Marta Alonso-Varela, Helena Gil-Peña, Eliecer Coto, Juan Gómez, Julián Rodríguez, Enrique Rodríguez-Rubio, Fernando Santos
BACKGROUND: To evaluate whether there are differences in the phenotype of primary distal renal tubular acidosis (dRTA) patients according to the causal defective gene. METHODS: Twenty-seven non-oriental patients with genetically confirmed dRTA were grouped according to the identified underlying mutations in either ATP6V1B1 (n = 10), ATP6V0A4 (n = 12), or SLC4A1 (n = 5) gene. Demographic features, growth impairment, biochemical variables and presence of deafness, nephrocalcinosis, and urolithiasis at diagnosis were compared among the three groups...
May 3, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29723947/-identification-of-new-mutations-in-tcirg1-as-a-cause-of-infantile-malignant-osteopetrosis-in-two-mexican-patients
#8
Claudia Hernández-Martínez, Mara Noemí Guzmán-Martínez, Selma Scheffler-Mendoza, Sara Elva Espinosa-Padilla, Cristina Sobacchi, Lizbeth Blancas-Galicia
BACKGROUND: Osteopetrosis is a heterogeneous group of diseases that are characterized by increased bone density due to abnormalities in osteoclast differentiation or function, which result in a lack of bone resorption. CASE REPORTS: Two patients with osteopetrosis onset since the first months of life, with facial dysmorphia, blindness, deafness, hepatosplenomegaly, hypotonia, neurodevelopmental retardation and bicytopenia. Bone radiographs showed osteosclerosis...
January 2018: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/29717636/importance-of-cardiovascular-examination-in-patients-with-multiple-lentigines-two-cases-of-leopard-syndrome-with-hypertrophic-cardiomyopathy
#9
Tomas Jurko, Alexander Jurko, Jana Krsiakova, Alexander Jurko, Milan Minarik, Michal Mestanik
Introduction LEOPARD syndrome is a rare genetic disorder characterised by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth and sensorineural deafness. Clinical manifestations are often mild, which may result in difficult and late diagnosis. Cardiac involvement may have a significant impact on the prognosis, however, appearance of severe abnormalities such as hypertrophic cardiomyopathy usually precedes the occurrence of multiple lentigines and may be asymptomatic...
May 2, 2018: Acta Clinica Belgica
https://www.readbyqxmd.com/read/29706463/characterizing-a-novel-vglut3-p2a-icreer-knockin-mouse-strain-in-cochlea
#10
Chao Li, Yilai Shu, Guangqin Wang, He Zhang, Ying Lu, Xiang Li, Gen Li, Lei Song, Zhiyong Liu
Precise mouse genetic studies rely on specific tools that can label specific cell types. In mouse cochlea, previous studies suggest that vesicular glutamate transporter 3 (vGlut3), also known as Slc17a8, is specifically expressed in inner hair cells (IHCs) and loss of vGlut3 causes deafness. To take advantage of its unique expression pattern, here we generate a novel vGlut3-P2A-iCreER knockin mouse strain. The P2A-iCreER cassette is precisely inserted before stop codon of vGlut3, by which the endogenous vGlut3 is intact and paired with iCreER as well...
April 17, 2018: Hearing Research
https://www.readbyqxmd.com/read/29703829/old-gene-new-phenotype-splice-altering-variants-in-ceacam16-cause-recessive-non-syndromic-hearing-impairment
#11
Kevin T Booth, Kimia Kahrizi, Hossein Najmabadi, Hela Azaiez, Richard Jh Smith
BACKGROUND: Hearing loss is a genetically and phenotypically heterogeneous disorder. OBJECTIVES: The purpose of this study was to determine the genetic cause underlying the postlingual progressive hearing loss in two Iranian families. METHODS: We used OtoSCOPE, a next-generation sequencing platform targeting >150 genes causally linked to deafness, to screen two deaf probands. Data analysis was completed using a custom bioinformatics pipeline, and variants were functionally assessed using minigene splicing assays...
April 27, 2018: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29681450/concurrent-hearing-genetic-and-cytomegalovirus-screening-in-newborns-taiwan
#12
Chun-Yi Lu, Po-Nien Tsao, Ying-Ying Ke, Yi-Hsin Lin, Yin-Hung Lin, Chia-Cheng Hung, Yi-Ning Su, Wei-Chung Hsu, Wu-Shiun Hsieh, Li-Min Huang, Chen-Chi Wu, Chuan-Jen Hsu
OBJECTIVE: To evaluate the feasibility and potential benefits of incorporating genetic and cytomegalovirus (CMV) screenings into the current newborn hearing screening (NHS) programs. STUDY DESIGN: Newborns were recruited prospectively from a tertiary hospital and a maternity clinic between May 2016 and December 2016 and were subjected to hearing screening, CMV screening, and genetic screening for 4 common mutations in deafness genes (p.V37I and c.235delC of GJB2 gene, c...
April 19, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29678855/de-novo-sox10-nonsense-mutation-in-a-patient-with-kallmann-syndrome-deafness-iris-hypopigmentation-and-hyperthyroidism
#13
Fang Wang, Shaoli Zhao, Yanhong Xie, Wenjun Yang, Zhaohui Mo
Kallmann syndrome (KS) is a clinically and genetically heterogeneous disorder characterized by hypogonadotropic hypogonadism and olfactory dysfunction. Recently, mutations in SOX10, a well-known causative gene of Waardenburg syndrome (WS), have been identified in a few KS patients with additional developmental defects including hearing loss. However, the understanding of SOX10 mutation associates with KS and other clinical consequences remains fragmentary. A 30-year-old Chinese male patient presented with no pubertal sex development when he was at the age of twelve years...
March 2018: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/29663634/barakat-syndrome-revisited
#14
Amin J Barakat, Margarita Raygada, Owen M Rennert
Barakat syndrome also known as HDR syndrome (Online Mendelian Inheritance in Man [OMIM] 146255), was first described by Barakat et al. in . It is a rare genetic disorder characterized by the triad of hypoparathyroidism "H," sensorineural deafness "D," and renal disease "R." The defect is caused by deletions in chromosome 10p14 or mutations in the GATA3 gene. Although the syndrome has been phenotypically defined by this triad the literature identifies cases with different components with, or without GATA3 defects making the definition of the syndrome confusing...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29655659/a-v1143f-mutation-in-the-neuronal-enriched-isoform-2-of-the-pmca-pump-is-linked-with-ataxia
#15
Mattia Vicario, Ginevra Zanni, Francesca Vallese, Filippo Santorelli, Alessandro Grinzato, Domenico Cieri, Paola Berto, Martina Frizzarin, Raffaele Lopreiato, Francesco Zonta, Stefania Ferro, Michele Sandre, Oriano Marin, Maria Ruzzene, Enrico Bertini, Giuseppe Zanotti, Marisa Brini, Tito Calì, Ernesto Carafoli
The fine regulation of intracellular calcium is fundamental for all eukaryotic cells. In neurons, Ca2+ oscillations govern the synaptic development, the release of neurotransmitters and the expression of several genes. Alterations of Ca2+ homeostasis were found to play a pivotal role in neurodegenerative progression. The maintenance of proper Ca2+ signaling in neurons demands the continuous activity of Ca2+ pumps and exchangers to guarantee physiological cytosolic concentration of the cation. The plasma membrane Ca2+ ATPases (PMCA pumps) play a key role in the regulation of Ca2+ handling in selected sub-plasma membrane microdomains...
April 12, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29625443/comprehensive-molecular-screening-in-chinese-usher-syndrome-patients
#16
Tengyang Sun, Ke Xu, Yanfan Ren, Yue Xie, Xiaohui Zhang, Lu Tian, Yang Li
Purpose: Usher syndrome (USH) refers to a group of autosomal recessive disorders causing deafness and blindness. The objectives of this study were to determine the mutation spectrum in a cohort of Chinese patients with USH and to describe the clinical features of the patients with mutations. Methods: A total of 119 probands who were clinically diagnosed with USH were recruited for genetic analysis. All probands underwent ophthalmic examinations. A combination of molecular screening methods, including targeted next-generation sequencing, Sanger-DNA sequencing, and multiplex ligation probe amplification assay, was used to detect mutations...
March 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29607572/a-clinical-guidance-to-dfna22-drawn-from-a-korean-cohort-study-with-an-autosomal-dominant-deaf-population-a-retrospective-cohort-study
#17
Bong Jik Kim, Jin Hee Han, Hye-Rim Park, Min Young Kim, Ah Reum Kim, Seung-Ha Oh, Woong-Yang Park, Doo Yi Oh, Seungmin Lee, Byung Yoon Choi
BACKGROUND: The MYO6 gene, if altered, can cause non-syndromic hearing loss (NSHL) either in autosomal dominant (AD) (DFNA22) or recessive form. This study identified MYO6 variants in the cohort of Korean AD NSHL families and investigated the audiological phenotypes of DFNA22 to suggest clinical guides for the counseling of DFNA22. METHODS: Retrospective cohort study was performed on 81 AD NSHL families in two hospitals. Among them, five families (SH21, SB60, SB247, SB290, and SB305) segregating with MYO6 variant were genetically and clinically assessed...
April 1, 2018: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29605370/a-novel-missense-mutation-in-gipc3-causes-sensorineural-hearing-loss-in-an-iranian-family-revealed-by-targeted-next-generation-sequencing
#18
Samira Asgharzade, Mohammad Amin Tabatabaiefar, Javad Mohammadi-Asl, Morteza Hashemzadeh Chaleshtori
BACKGROUND: Recent studies have confirmed the utility of targeted next-generation sequencing (NGS), providing a remarkable opportunity to find variants in known disease genes, especially in genetically heterogeneous disorders such as hearing loss (HL). METHODS: After excluding mutations in the most common autosomal recessive non-syndromic HL (ARNSHL) genes via Sanger sequencing and genetic linkage analysis, we performed NGS in the proband an Iranian family with ARNSHL...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29605365/genetic-mutations-in-non-syndromic-deafness-patients-in-hainan-province-have-a-different-mutational-spectrum-compared-to-patients-from-mainland-china
#19
Bangqing Huang, Mingyu Han, Guojian Wang, ShaSha Huang, Jialing Zeng, Yongyi Yuan, Pu Dai
OBJECTIVES: To provide appropriate genetic testing and counseling for non-syndromic hearing impairment patients in Hainan Province, an island in the South China Sea. METHODS: 299 unrelated students with non-syndromic hearing loss who attended a special education school in Hainan Province were enrolled in this study. Three prominent deafness-related genes (GJB2, SLC26A4, and mtDNA 12S rRNA) were analyzed using Sanger sequencing. RESULTS: GJB2 mutations were detected in 32...
May 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29575852/streptococcus-suis-a-re-emerging-pathogen-associated-with-occupational-exposure-to-pigs-or-pork-products-part-ii-pathogenesis
#20
REVIEW
Jacek Dutkiewicz, Violetta Zając, Jacek Sroka, Bernard Wasiński, Ewa Cisak, Anna Sawczyn, Anna Kloc, Angelina Wójcik-Fatla
<i>Streptococcus suis</i> is a re-emerging zoonotic pathogen that may cause severe disease, mostly meningitis, in pigs and in humans having occupational contact with pigs and pork, such as farmers, slaughterhose workers and butchers. The first stage of the pathogenic process, similar in pigs and humans, is adherence to and colonisation of mucosal and/or epithelial surface(s) of the host. The second stage is invasion into deeper tissue and extracellular translocation of bacterium in the bloodstream, either free in circulation or attached to the surface of monocytes...
March 14, 2018: Annals of Agricultural and Environmental Medicine: AAEM
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