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2. GJB2 and GJB6 genes: Molecular study and identification of novel GJB2 mutations in the hearing-impaired argentinean population

Author

Dalamon, Viviana Karina, Lotersztein, Vanesa, Béhèran, Agustina, Lipovsek, Maria Marcela, Diamante, Fernando, Pallares, Norma, Francipane, Liliana, Frechtel, Gustavo Daniel, Paoli, Bibiana, Mansilla, Enrique, Diamante, Vicente, and Elgoyhen, Ana Belen

Subjects
CONNEXIN 30, CIENCIAS MÉDICAS Y DE LA SALUD, GJB6, CONNEXIN 26, MUTATION, NOVEL, Medicina Critica y de Emergencia, Medicina Clínica, DEAFNESS, GJB2
Abstract

Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of the GJB2, GJB6, OTOF and MTRNR1 genes in 252 patients with sensorineural non-syndromic hearing loss. Thirty-one different mutations were identified in GJB2 and GJB6 in 86 of the 252 (34%) patients. We describe for the first time two new mutations in GJB2: the missense mutation c.29 T>C (p.Leu10Pro) in the N terminal domain and c.326 G>T (p.Gly109Val) in the intracytoplasmic domain of connexin 26. This work shows the high prevalence of GJB2 mutations in the Argentinean population, with frequencies that are comparable to those of the Mediterranean area. Most important, it adds two novel GJB2 mutations to be taken into consideration in the genetic diagnosis of non-syndromic sensorineural hearing loss. Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina Fil: Lotersztein, Vanesa. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Béhèran, Agustina. Centro de Implantes Cocleares "Prof. Dr. Vicente Diamante"; Argentina Fil: Lipovsek, Maria Marcela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina Fil: Diamante, Fernando. Centro de Implantes Cocleares "Prof. Dr. Vicente Diamante"; Argentina Fil: Pallares, Norma. Centro de Implantes Cocleares "Prof. Dr. Vicente Diamante"; Argentina Fil: Francipane, Liliana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Frechtel, Gustavo Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Paoli, Bibiana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Mansilla, Enrique. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Diamante, Vicente. Centro de Implantes Cocleares "Prof. Dr. Vicente Diamante"; Argentina Fil: Elgoyhen, Ana Belen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Farmacología; Argentina

Published
2010

3. GJB2 and GJB6 Genes: Molecular Study and Identification of Novel GJB2 Mutations in the Hearing-Impaired Argentinean Population.

Author

Dalamón, Viviana, Lotersztein, Vanesa, Béhèran, Agustina, Lipovsek, Marcela, Diamante, Fernando, Pallares, Norma, Francipane, Liliana, Frechtel, Gustavo, Paoli, Bibiana, Mansilla, Enrique, Diamante, Vicente, and Elgoyhen, Ana Belén

Subjects
*DEAFNESS, *GENES, *GENETIC mutation, *POPULATION, *EAR diseases, *HEARING disorders
Abstract

Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of the GJB2, GJB6, OTOF and MTRNR1 genes in 252 patients with sensorineural non-syndromic hearing loss. Thirty-one different mutations were identified in GJB2 and GJB6 in 86 of the 252 (34%) patients. We describe for the first time two new mutations in GJB2: the missense mutation c.29 T>C (p.Leu10Pro) in the N terminal domain and c.326 G>T (p.Gly109Val) in the intracytoplasmic domain of connexin 26. This work shows the high prevalence of GJB2 mutations in the Argentinean population, with frequencies that are comparable to those of the Mediterranean area. Most important, it adds two novel GJB2 mutations to be taken into consideration in the genetic diagnosis of non-syndromic sensorineural hearing loss. Copyright © 2009 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Published
2010
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4. Performance of speech perception after cochlear implantation in DFNB1 patients.

Author

Dalamón, Viviana, Lotersztein, Vanesa, Lipovsek, Marcela, Bèherán, Agustina, Mondino, Maria Elena, Diamante, Fernando, Pallares, Norma, Diamante, Vicente, and Elgoyhen, Ana Belen

Subjects
*DEAFNESS, *COCHLEAR implants, *SPEECH perception, *HEARING disorders, *ETIOLOGY of diseases
Abstract

Conclusion: There were no apparent differences in speech performance after cochlear implantation between patients with biallelic GJB2 and/or GJB6 mutations and those with deafness of unknown aetiology. These data have important implications for the selection of prognostic indicators of the outcome of cochlear implantation. Objective: To compare performance after cochlear implantation in children with mutations in GJB2 (connexin 26) and/or GJB6 (connexin 30) and children with deafness of unknown aetiology. Subjects and methods: Genetic analysis and speech performance evaluation was determined in 24 patients with (n=11) and without (n=13) biallelic GJB2 and/or GJB6 mutations who underwent cochlear implantation. Speech perception skills were measured 12 and 24 months after surgery. Each patient was classified in accordance with the speech perception category (SPC). Results: Overall, the two groups showed similar significant improvement in speech perception after implantation. [ABSTRACT FROM AUTHOR]

Published
2009
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5. GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

Author

Viviana Karina Dalamon, Leonela Natalia Luce, Sebastián Menazzi, Ana Belén Elgoyhen, Vanesa Lotersztein, Bibiana Paoli, Paula Inés Buonfiglio, Florencia Giliberto, and Carlos David Bruque

Subjects
0301 basic medicine, medicine.medical_specialty, lcsh:QH426-470, CURATION, Hearing loss, Genetic counseling, Genomics, Bioinformatics, Article, purl.org/becyt/ford/1 [https], HEARING LOSS, 03 medical and health sciences, 0302 clinical medicine, GJB6, Genetics, otorhinolaryngologic diseases, Medicine, argentina, GENETIC VARIANTS, purl.org/becyt/ford/1.6 [https], Genetics (clinical), hearing loss, ARGENTINA, biology, Molecular pathology, business.industry, genetic variants, curation, GJB2, lcsh:Genetics, 030104 developmental biology, Categorization, Cohort, biology.protein, Medical genetics, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract

Genetic variants in GJB2 and GJB6 genes are the most frequent causes of hereditary hearing loss among several deaf populations worldwide. Molecular diagnosis enables proper genetic counseling and medical prognosis to patients. In this study, we present an update of testing results in a cohort of Argentinean non-syndromic hearing-impaired individuals. A total of 48 different sequence variants were detected in genomic DNA from patients referred to our laboratory. The y were manually curated and classified based on the American College of Medical Genetics and Genomics/Association for Molecular Pathology ACMG/AMP standards and hearing-loss-gene-specific criteria of the ClinGen Hearing Loss Expert Panel. More than 50% of sequence variants were reclassified from their previous categorization in ClinVar. The se results provide an accurately interpreted set of variants to be taken into account by clinicians and the scientific community, and hence, aid the precise genetic counseling to patients. Fil: Buonfiglio, Paula Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina Fil: Bruque, Carlos David. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental. Fundación de Instituto de Biología y Medicina Experimental. Instituto de Biología y Medicina Experimental; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud "Dr. C. G. Malbrán"; Argentina Fil: Luce, Leonela Natalia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina Fil: Giliberto, Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina Fil: Lotersztein, Vanesa. Ministerio de Defensa. Ejército Argentino. Hospital Militar Central Cirujano Mayor "Dr. Cosme Argerich"; Argentina Fil: Menazzi, Sebastián. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Paoli, Bibiana Patricia. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Elgoyhen, Ana Belen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Farmacología; Argentina Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular "Dr. Héctor N. Torres"; Argentina

Published
2020

6. Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype–phenotype analysis in moderate cases

Author

Patricio O. Craig, Viviana Karina Dalamon, Raúl Reynoso Diamante, Enrique Mansilla, Ana Belén Elgoyhen, María E. Barteik, Bibiana Paoli, Vanesa Lotersztein, M. Florencia Wernert, and Carlos Curet

Subjects
Models, Molecular, Hearing loss, DNA Mutational Analysis, Molecular Sequence Data, Connexin, Deafness, Connexins, Genotype phenotype, Ciencias Biológicas, HEARING LOSS, Genética y Herencia, Audiometry, GJB6, Connexin 30, Genetics, medicine, Humans, Amino Acid Sequence, Molecular Biology, Alleles, Genetic Association Studies, DFNB1, biology, General Medicine, GJB2, Connexin 26, Mutation, biology.protein, Identification (biology), medicine.symptom, Gene Deletion, CIENCIAS NATURALES Y EXACTAS, Non syndromic
Abstract

This paper presents a mutation as well as a genotype-phenotype analysis of the GJB2 and GJB6 genes in 476 samples from non-syndromic unrelated Argentinean deaf patients (104 familial and 372 sporadic cases). Most of them were of prelingual onset (82 %) and 27 % were cochlear implanted. Variation of sequences was detected in 171 of the 474 patients (36 %). Overall, 43 different sequence variations were identified in GJB2 and GJB6. Four of them are reported for the first time in GJB2: c.233dupG, p.Ala78Ser, p.Val190Asp and p.Cys211Tyr. Mutations in GJB6 were detected in 3 % of patients [nine del(GJB6-D13S1830) and three del(GJB6-D13S1854)]. Of the 43 different variations identified in GJB2, 6 were polymorphisms and of the others, 10 (27 %) were truncating and 27 (73 %) were nontruncating. Patients with two truncating mutations had significantly worse hearing impairment than all other groups. Moderate phenotypes were observed in a group of patients carrying biallelic mutations (23 %). This work shows the high prevalence of GJB2 mutations in the Argentinean population and presents an analysis of moderate phenotypes in our cohort. Fil: Dalamon, Viviana Karina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina Fil: Wernert, Maria Florencia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina Fil: Lotersztein, Vanesa. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Craig, Patricio Oliver. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Química y Fisicoquímica Biológicas; Argentina Fil: Reynoso, Raúl Alfredo. Universidad Nacional de Córdoba. Facultad de Medicina. Departamento de Medicina. Centro Piloto de Deteccion de Errores Metabólicos; Argentina. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro Otoaudiológico de Alta Tecnología; Argentina Fil: Barteik, María Eugenia. Universidad Nacional de Córdoba. Facultad de Medicina. Departamento de Medicina. Centro Piloto de Deteccion de Errores Metabólicos; Argentina. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro Otoaudiológico de Alta Tecnología; Argentina Fil: Curet, Carlos Augusto. Universidad Nacional de Córdoba. Facultad de Medicina. Departamento de Medicina. Centro Piloto de Deteccion de Errores Metabólicos; Argentina. Universidad Nacional de Córdoba. Facultad de Ciencias Médicas. Centro Otoaudiológico de Alta Tecnología; Argentina Fil: Paoli, Bibiana. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Mansilla, Enrique. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; Argentina Fil: Elgoyhen, Ana Belen. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Investigaciones en Ingeniería Genética y Biología Molecular; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Departamento de Farmacología; Argentina

Published
2013
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