Results 31 to 40 of about 514 (125)

Full etiologic spectrum of pediatric severe to profound hearing loss of consecutive 119 cases

Scientific Reports, 2022
Determining the etiology of severe-to-profound sensorineural hearing loss (SP-SNHL) in pediatric subjects is particularly important in aiding the decision for auditory rehabilitation.
Young Seok Kim, Yoonjoong Kim, Hyoung Won Jeon, Nayoung Yi, Sang-Yeon Lee, Yehree Kim, Jin Hee Han, Min Young Kim, Bo Hye Kim, Hyeong Yun Choi, Marge Carandang, Ja-Won Koo, Bong Jik Kim, Yun Jung Bae, Byung Yoon Choi   +14 more
doaj   +1 more source

High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation. [PDF]

Laryngoscope Investig Otolaryngol
Diagnostic yield for Hispanic and Latino with severe to profound sensorineural hearing loss undergoing comprehensive genomic testing. Abstract Objective Studies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking.
Rodriguez-Valero M, Pastolero A, Redfield S, Medrano A, Abreu-Gonzalez M, Gallardo-Ollervides JF, Cisneros Lesser JC, Hinojosa Valencia MF, Poe D, Shearer E.   +9 more
europepmc   +2 more sources

Contribution of SLC26A4 to the molecular diagnosis of nonsyndromic prelingual sensorineural hearing loss in a Brazilian cohort

BMC Research Notes, 2018
Objective Hereditary hearing loss (HL) is the most common sensorineural disorder in humans. Besides mutations in GJB2 and GJB6 genes, pathogenic variants in the SLC26A4 gene have been reported as a cause of hereditary HL due to its role in the physiology
Simone da Costa e Silva Carvalho, Carlos Henrique Paiva Grangeiro, Clarissa Gondim Picanço-Albuquerque, Thaís Oliveira dos Anjos, Greice Andreotti De Molfetta, Wilson Araujo Silva, Victor Evangelista de Faria Ferraz   +6 more
doaj   +1 more source

Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea. [PDF]

Hum Genet
Pathogenic variation of SLC26A 4 gene causes both Pendred syndrome (PDS) and non-syndromic enlarged vestibular aqueduct (NSEVA/DFNB4), two autosomal recessive disorders.
Koh JY, Affortit C, Homma K, Takahashi S, Nizar JM, Ranum PT, Gogal R, Kim EM, Kang M, Kolbe DL, Bu F, West C, Wang D, Odell A, Weaver A, Hendon J, Walls WD, Schnieders MJ, Smith RJH.   +18 more
europepmc   +2 more sources

Maternal UPD of chromosome 7 in a patient with Silver‐Russell syndrome and Pendred syndrome

Journal of Clinical Laboratory Analysis, Volume 34, Issue 9, September 2020., 2020
Abstract Background Silver‐Russell syndrome (SRS) is a heterogeneous imprinting disorder featuring severe intrauterine and postnatal growth retardation and dysmorphic features. Pendred syndrome (PDS) is an autosomal recessive disorder caused by mutations in the SLC26A4 gene characterized by sensorineural hearing loss.
Chuan Zhang, Shengju Hao, Qinghua Zhang, Furong Liu, Bingbo Zhou, Feng Xuan, Wang Xing, Xue Chen, Yan Wang, Panpan Ma, Zongfu Cao, Xu Ma   +11 more
wiley   +1 more source

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct

BMC Medical Genetics, 2019
Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA).
Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer, Andrew J. Griffith   +8 more
doaj   +1 more source

Development of in‐house genetic screening for pediatric hearing loss

Laryngoscope Investigative Otolaryngology, Volume 5, Issue 3, Page 497-505, June 2020., 2020
Abstract Objectives To evaluate the efficiency of in‐house genetic testing for mutations causing the most common types of inherited, nonsyndromic, sensorineural hearing loss (SNHL). Methods Retrospective cohort study of 200 patients at a single, pediatric medical center with suspected or confirmed hearing loss who underwent either send out vs in‐house ...
Karl W. Doerfer, Tara Sander, Girija G. Konduri, David R. Friedland, Joseph E. Kerschner, Christina L. Runge   +5 more
wiley   +1 more source

Genetics of pediatric hearing loss: A functional perspective

Laryngoscope Investigative Otolaryngology, Volume 5, Issue 3, Page 511-519, June 2020., 2020
Abstract Objectives This article reviews the current role of genetics in pediatric hearing loss (HL). Methods A review of the current literature regarding the genetic basis of HL in children was performed. Results To date, 119 nonsyndromic genes have been associated with HL.
Harmon Khela, Margaret A. Kenna
wiley   +1 more source

Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss [PDF]

, 2014
Pendred syndrome (PDS) and DFNB4 comprise a phenotypic spectrum of sensorineural hearing loss disorders that typically result from biallelic mutations of the SLC26A4 gene. Although PDS and DFNB4 are recessively inherited, sequencing of the coding regions
Frederick Schaefer, Iris Schrijver, Lynn M Pique, Marie-Luise Brennan, John Greinwald Jr., Colin J Davidson   +5 more
core   +1 more source

Thick airway surface liquid volume and weak mucin expression in pendrin-deficient human airway epithelia. [PDF]

, 2015
Pendrin is an anion exchanger whose mutations are known to cause hearing loss. However, recent data support the linkage between pendrin expression and airway diseases, such as asthma.
윤주헌, 강주완, 최재영, 김규보, 이현재, 조형주   +5 more
core   +1 more source