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Genetics of deafness

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https://www.readbyqxmd.com/read/29348176/contribution-of-the-trnaile-4317a-g-mutation-to-the-phenotypic-manifestation-of-the-deafness-associated-mitochondrial-12s-rrna-1555a-g-mutation
#1
Feilong Meng, Zheyun He, Xiaowen Tang, Jing Zheng, Xiaofen Jin, Yi Zhu, Xiaoyan Ren, Mi Zhou, Meng Wang, Shasha Gong, Jun Qin Mo, Qiang Shu, Min-Xin Guan
The 1555A>G mutation in mitochondrial 12S rRNA has been associated with aminoglycoside-induced and nonsyndromic deafness in many individuals worldwide. Mitochondrial genetic modifiers are proposed to influence the phenotypic expression of m.1555A>G mutation. Here, we report that a deafness-susceptibility allele (m.4317A>G) in the tRNAIle gene modulates the phenotype expression of m.1555A>G mutation. Strikingly, a large Han Chinese pedigree carrying both m.4317A>G and m.1555A>G mutations exhibited much higher penetrance of deafness than those carrying only m...
January 18, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29348084/molecular-characterization-of-autosomal-recessive-non-syndromic-hearing-loss-in-selected-families-from-district-mardan-pakistan
#2
Shahid Hussain, Jabar Zaman Khattak, Mohammad Ismail, Qaisar Mansoor, Mohammad Haroon Khan
Deafness is the most common sensory disorder, which affects 1/1000 neonates globally. Genetic factors are major contributors for hearing impairment. This study was conducted to explore the linkage of DFNB loci and their mutations with NSHL in selected Pakistani families. We included 10 families with history of deafness from district Mardan, Pakistan. Blood sample (5ml) along with personal and clinical information was collected from the available family members including both diseased and un-affected individuals...
January 2018: Pakistan Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/29331002/genetics-of-human-hereditary-hearing-impairment
#3
Rahat Meena, Muhammad Ayub
Hereditary hearing impairment is heterogeneous type of disorder which can be caused due to environmental as well as genetical factors. Two distinct types of hereditary hearing loss are syndromic or non-syndromic. Non-syndromic hearing loss is further categorized as autosomal recessive, autosomal dominant, X-linked and mitochondrial deafness. Autosomal recessive occurs more frequently as compared to autosomal dominant. Mutations in various genes are responsible for hereditary hearing impairment. To date, about 99 autosomal recessives and 67 autosomal dominant genes for deafness have been discovered...
October 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/29324475/bilateral-cochlear-implants-maximizing-expected-outcomes
#4
Kate E Willis, Nathan J Blum, Stephanie A Waryasz, Marilyn Augustyn
Sonia is a 4 1/12-year-old girl with Waardenburg syndrome and bilateral sensorineural hearing loss who had bilateral cochlear implants at 2 7/12 years of age. She is referred to Developmental-Behavioral Pediatrics by her speech/language pathologist because of concerns that her language skills are not progressing as expected after the cochlear implant. At the time of the implant, she communicated using approximately 20 signs and 1 spoken word (mama). At the time of the evaluation (18 months after the implant) she had approximately 70 spoken words (English and Spanish) and innumerable signs that she used to communicate...
January 10, 2018: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/29321651/auditory-neural-activity-in-congenitally-deaf-mice-induced-by-infrared-neural-stimulation
#5
Xiaodong Tan, Israt Jahan, Yingyue Xu, Stuart Stock, Changyow Claire Kwan, Carmen Soriano, Xianghui Xiao, Jaime García-Añoveros, Bernd Fritzsch, Claus-Peter Richter
To determine whether responses during infrared neural stimulation (INS) result from the direct interaction with spiral ganglion neurons (SGNs), we tested three genetically modified deaf mouse models: Atoh1-cre; Atoh1 f/f (Atoh1 conditional knockout, CKO), Atoh1-cre; Atoh1 f/kiNeurog1 (Neurog1 knockin, KI), and the Vglut3 knockout (Vglut3 -/-) mice. All animals were exposed to tone bursts and clicks up to 107 dB (re 20 µPa) and to INS, delivered with a 200 µm optical fiber. The wavelength (λ) was 1860 nm, the radiant energy (Q) 0-800 µJ/pulse, and the pulse width (PW) 100-500 µs...
January 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29321360/ellis-van-creveld-syndrome-and-profound-deafness-resulted-by-sequence-variants-in-the-evc-evc2-and-tmc1-genes
#6
Muhammad Umair, Heide Seidel, Ishtiaq Ahmed, Asmat Ullah, Tobias B Haack, Bader Alhaddad, Abid Jan, Afzal Rafique, Tim M Strom, Farooq Ahmad, Thomas Meitinger, Wasim Ahmad
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia primarily characterized by the features such as disproportionate dwarfism, short ribs, short limbs, dysplastic nails, cardiovascular malformations, post-axial polydactyly (PAP) (bilateral) of hands and feet. EVC/EVC2 located in head-to-head arrangement on chromosome 4p16 are the causative genes for EvC syndrome. In the study, we present two families, A and B, with Pakistani and Republic of Kosovo origin, respectively. They showed features of EvC syndrome and were clinically and genetically characterized...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29311684/a-severely-short-statured-girl-with-47-xx-%C3%A2-%C3%A2-14-46-xx-upd-14-mat-mosaicism
#7
Kikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, Akie Nakamura, Maki Fukami, Masayo Kagami
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously reported patients with a combination of trisomy 14 mosaicism and upd(14)mat, the detailed clinical features of these patients remain to be elucidated...
January 9, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29309402/a-c-terminal-nonsense-mutation-links-ptprq-with-autosomal-dominant-hearing-loss-dfna73
#8
Tobias Eisenberger, Nataliya Di Donato, Christian Decker, Andrea Delle Vedove, Christine Neuhaus, Gudrun Nürnberg, Mohammad Toliat, Peter Nürnberg, Dirk Mürbe, Hanno Jörn Bolz
PurposeHearing loss is genetically extremely heterogeneous, making it suitable for next-generation sequencing (NGS). We identified a four-generation family with nonsyndromic mild to severe hearing loss of the mid- to high frequencies and onset from early childhood to second decade in seven members.MethodsNGS of 66 deafness genes, Sanger sequencing, genome-wide linkage analysis, whole-exome sequencing (WES), semiquantitative reverse-transcriptase polymerase chain reaction.ResultsWe identified a heterozygous nonsense mutation, c...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29308629/identification-of-novel-ptprq-and-myo1a-mutations-in-an-iranian-pedigree-with-autosomal-recessive-hearing-loss
#9
Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Saeed Tizno, Marziye Najafvand Zadeh
Autosomal recessive non-syndromic hearing loss (ARNSHL) is defined as a genetically heterogeneous disorder. The aim of the present study was to screen for pathogenic variants in an Iranian pedigree with ARNSHL. Next-generation targeted sequencing of 127 deafness genes in the proband detected two novel variants, a homozygous missense variant in PTPRQ (c.2599 T>C, p.Ser867Pro and a heterozygous missense variant in MYO1A (c.2804 T>C, p.Ile935Thr), both of which were absent in unaffected sibs and two hundred unaffected controls...
April 2018: Cell Journal
https://www.readbyqxmd.com/read/29287889/a-novel-mutation-of-the-eya4-gene-associated-with-post-lingual-hearing-loss-in-a-proband-is-co-segregating-with-a-novel-pax3-mutation-in-two-congenitally-deaf-family-members
#10
Federica Cesca, Elisa Bettella, Roberta Polli, Elona Cama, Pietro Scimemi, Rosamaria Santarelli, Alessandra Murgia
OBJECTIVES: This work was aimed at establishing the molecular etiology of hearing loss in a 9-year old girl with post-lingual non-syndromic mild sensorineural hearing loss with a complex family history of clinically heterogeneous deafness. METHODS: The proband's DNA was subjected to NGS analysis of a 59-targeted gene panel, with the use of the Ion Torrent PGM platform. Conventional Sanger sequencing was used for segregation analysis in all the affected relatives...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29287868/germinal-mosaicism-of-pax3-mutation-caused-waardenburg-syndrome-type-i
#11
Kaitian Chen, Yuan Zhan, Xuan Wu, Ling Zong, Hongyan Jiang
OBJECTIVES: Waardenburg syndrome mutations are most often recurrent or de novo. The rate of familial recurrence is low and families with several affected children are extremely rare. In this study, we aimed to clarify the underlying hereditary cause of Waardenburg syndrome type I in two siblings in a Chinese family, with a mother affected by prelingual mild hearing loss and a father who was negative for clinical symptoms of Waardenburg syndrome and had a normal hearing threshold. METHODS: Complete characteristic features of the family members were recorded and genetic sequencing and parent-child relationship analyses were performed...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29286014/symptomatic-congenital-cytomegalovirus-deafness-the-impact-of-a-six-week-course-of-antiviral-treatment-on-hearing-improvement
#12
Fulvia Mazzaferri, Maddalena Cordioli, Michela Conti, Silvia Storato, Giorgia Be, Paolo Biban, Ercole Concia, Mara Merighi
Congenital Cytomegalovirus infection is the leading non-genetic cause of neurosensory deafness. We compared the outcomes of a treated group of children to an untreated group. The effect of antiviral therapy on hearing improvement between baseline and 2-year follow-up was statistically significant. These results suggest that the benefit of 6-week therapy is not limited to preventing further hearing deterioration.
December 1, 2017: Le Infezioni in Medicina
https://www.readbyqxmd.com/read/29285715/gene-mutations-and-clinical-phenotypes-in-15-chinese-children-with-cryopyrin-associated-periodic-syndrome-caps
#13
Caifeng Li, Xiaohua Tan, Junmei Zhang, Shipeng Li, Wenxiu Mo, Tongxin Han, Weiying Kuang, Yifang Zhou, Jianghong Deng
The aim of our study is to explore the features of clinical manifestations and genetic mutations in Chinese CAPS patients. Fifteen confirmed patients with CAPS were enrolled. The onset time ranges from 2 days after birth to 6 years and 1 month. Recurrent urticaria rash (93.3%) with fever (100%) were two dominant characteristics of these patients that were presented as either acute or chronic process. Systemic involvements were found in all patients except for one with only rash and fever. The top three symptoms were fever (100%), rash (93...
December 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/29277467/bladder-dysfunction-in-wolfram-syndrome-is-highly-prevalent-and-progresses-to-megacystis
#14
Ruth Wragg, Renuka P Dias, Timothy Barrett, Liam McCarthy
AIM: Wolfram syndrome is a rare genetic defect in WFS1 or WSF2(CISD2). It includes diabetes mellitus and insipidis, sensorineural deafness, optic atrophy, but not bladder dysfunction. However, this has appeared a common finding in our national referral clinic, and we sought to quantify this problem. METHODS: Data were collected from a multidisciplinary team managing all Wolfram patients in the UK. The following was analyzed: age, date of non-invasive urodynamics (NIU), symptoms, bladder capacity, voided volume, post-void residual and uroflow pattern...
November 14, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29276601/delayed-diagnosis-of-a-patient-with-usher-syndrome-1c-in-a-louisiana-acadian-family-highlights-the-necessity-of-timely-genetic-testing-for-the-diagnosis-and-management-of-congenital-hearing-loss
#15
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29260487/bilingual-cancer-genetic-education-modules-for-the-deaf-community-development-and-evaluation-of-the-online-video-material
#16
Patrick Boudreault, Alicia Wolfson, Barbara Berman, Vickie L Venne, Janet S Sinsheimer, Christina Palmer
Health information about inherited forms of cancer and the role of family history in cancer risk for the American Sign Language (ASL) Deaf community, a linguistic and cultural community, needs improvement. Cancer genetic education materials available in English print format are not accessible for many sign language users because English is not their native or primary language. Per Center for Disease Control and Prevention recommendations, the level of literacy for printed health education materials should not be higher than 6th grade level (~ 11 to 12 years old), and even with this recommendation, printed materials are still not accessible to sign language users or other nonnative English speakers...
December 20, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29259539/the-contribution-of-l-type-cav1-3-channels-to-retinal-light-responses
#17
Liheng Shi, Janet Ya-An Chang, Fei Yu, Michael L Ko, Gladys Y-P Ko
L-type voltage-gated calcium channels (LTCCs) regulate tonic neurotransmitter release from sensory neurons including retinal photoreceptors. There are three types of LTCCs (Cav1.2, Cav1.3, and Cav1.4) expressed in the retina. While Cav1.2 is expressed in all retinal cells including the Müller glia and neurons, Cav1.3 and Cav1.4 are expressed in the retinal neurons with Cav1.4 exclusively expressed in the photoreceptor synaptic terminals. Mutations in the gene encoding Cav1.4 cause incomplete X-linked congenital stationary night blindness in humans...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29258297/treatment-of-autosomal-dominant-hearing-loss-by-in-vivo-delivery-of-genome-editing-agents
#18
Xue Gao, Yong Tao, Veronica Lamas, Mingqian Huang, Wei-Hsi Yeh, Bifeng Pan, Yu-Juan Hu, Johnny H Hu, David B Thompson, Yilai Shu, Yamin Li, Hongyang Wang, Shiming Yang, Qiaobing Xu, Daniel B Polley, M Charles Liberman, Wei-Jia Kong, Jeffrey R Holt, Zheng-Yi Chen, David R Liu
Although genetic factors contribute to almost half of all cases of deafness, treatment options for genetic deafness are limited. We developed a genome-editing approach to target a dominantly inherited form of genetic deafness. Here we show that cationic lipid-mediated in vivo delivery of Cas9-guide RNA complexes can ameliorate hearing loss in a mouse model of human genetic deafness. We designed and validated, both in vitro and in primary fibroblasts, genome editing agents that preferentially disrupt the dominant deafness-associated allele in the Tmc1 (transmembrane channel-like gene family 1) Beethoven (Bth) mouse model, even though the mutant Tmc1Bth allele differs from the wild-type allele at only a single base pair...
December 20, 2017: Nature
https://www.readbyqxmd.com/read/29238678/a-study-of-effect-of-consanguinity-on-cochlear-morphology-in-patients-with-congenital-bilateral-profound-sensorineural-hearing-loss
#19
Y Kavitha, K Sabarigirish, Upendra Kumar Joish, Sanjeev Saxena, Angshuman Dutta
Consanguinity has been considered as one of the risk factors predisposing to the development of congenital hearing loss. Effect of consanguinity on cochlear morphology has been subject of speculation, though many studies have provided insight into functional aspect of cochlea. This study was conducted to know the effect of consanguinity on cochlear morphology, if any. A prospective, observational study, including prelingually deaf children with bilateral profound sensorineural hearing loss who are registered as candidates for cochlear implantation at a tertiary care centre, was conducted...
December 2017: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/29234782/newborn-screening-of-genetic-mutations-in-common-deafness-genes-with-bloodspot-based-gene-chip-array
#20
Xuehu He, Xiuzhong Li, Yaqi Guo, Yue Zhao, Hui Dong, Jie Dong, Li Zhong, Zhiyun Shi, Yuying Zhang, Mario Soliman, Chunhua Song, Zhijun Zhao
Purpose: This study screens for deafness gene mutations in newborns in the Northwest China population. Method: The 9 sites of 4 common deafness genes (GJB2, GJB3, SLC26A4, and mt 12S rRNA) were detected by bloodspot-based gene chip array in 2,500 newborns. Results: We detected mutations of the 4 genes in 101 (4.04%) newborns; particularly, 0.20% detected the double mutations. In the Hui population, 4.58% of the newborns tested positive for mutations, whereas 4...
December 12, 2017: American Journal of Audiology
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