Molecular and clinical studies of X-linked deafness among Pakistani families

Waryah, Ali Muhammad; Ahmed, Zubair M.; Binder, Munir A; Choo, Daniel I.; Sisk, Robert A.; Shahzad, Mohsin; Khan, Shaheen N.; Friedman, Thomas B.; Riazuddin, Sheikh; Riazuddin, Saima

doi:10.1038/jhg.2011.55

Cited by 11 publications

(7 citation statements)

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“…[11212324] Besides the characteristics of CT images, audiological phenotype of DFNX3 is defined as profound deafness with or without a conductive element. [7141925] The conductive component in the audiogram could also be concerned about because of an atypical communication between an internal auditory canal and the inner ear leading to a pathologic third window which deteriorates air-conducted thresholds and increases bone-conducted thresholds. The supposed improvement in bone conduction sensitivity could be concealed by a true sensorineural deafness following the disorder.…”

Section: Discussionmentioning

confidence: 99%

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family

Han

Wang

et al. 2017

Chinese Medical Journal

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Background:The molecular genetic research showed the association between X-linked hearing loss and mutations in POU3F4. This research aimed to identify a POU3F4 mutation in a nonsyndromic X-linked recessive hearing loss family.Methods:A series of clinical evaluations including medical history, otologic examinations, family history, audiologic testing, and a high-resolution computed tomography scan were performed for each patient. Bidirectional sequencing was carried out for all polymerase chain reaction products of the samples. Moreover, 834 controls with normal hearing were also tested.Results:The pedigree showed X-linkage recessive inheritance pattern, and pathogenic mutation (c.499C>T) was identified in the proband and his family member, which led to a premature termination prior to the entire POU domains. This mutation co-segregated with hearing loss in this family. No mutation of POU3F4 gene was found in 834 controls.Conclusions:A nonsense mutation is identified in a family displaying the pedigree consistent with X-linked recessive pattern in POU3F4 gene. In addition, we may provide molecular diagnosis and genetic counseling for this family.

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Section: Discussionmentioning

confidence: 99%

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family

Han

Wang

et al. 2017

Chinese Medical Journal

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“…(2013) S98X U Mixed Marlin et al. (2009) W114X U Mixed Waryah et al. (2011) A116fs U Mixed Lee et al.…”

Section: Discussionmentioning

confidence: 99%

A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss

et al. 2015

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ObjectiveBased on the clinical manifestations of a hearing loss patient, the POU3F4 gene was tested for diagnosis of etiology.MethodsA comprehensive physical examination was performed on the proband to exclude abnormalities of other organs, and detailed audiological testing and temporal bone CT scan were also performed. Genomic DNA was extracted using the proband's peripheral blood leukocytes. Polymerase chain reactions (PCR) were performed in the coding sequence of the POU3F4 gene. Direct DNA sequencing was subsequently applied to screen the entire coding region of the POU3F4 gene.ResultsThe proband had severe sensorineural hearing loss. Temporal CT showed bilateral cochlear incomplete partition, vestibule dysplasia, internal auditory canal fundus expansion, and cochlear interlink with the internal auditory canal fundus. A novel mutation (c.530C > A (p.S177X)) in the POU3F4 gene was found in this patient, creating an new stop codon and was predicted to result in a truncated protein lacking normal POU3F4 transcription factor function.ConclusionThrough analysis of the POU3F4 gene and clinical manifestations in the patient, we conclude that a novel mutation may have resulted in a premature stop codon, contributing to the mutation of POU3F4 gene.

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“…A la fecha solo se han identificado siete loci o tipos de sorderas no sindrómica LX (DFNX1 -7) y seis genes clonados: PRPS1 para DFNX1, POU3F4 para DFNX2, SMPX para DFNX4, AIFM1 para DFNX5, COL4A6 para DFNX6 y GPRASP2 para DFNX7. De estos, cuatro presentan MOI [1,2,[17][18][19][20]. En la Tabla 1 se resumen las características clínicas: genéticas, audiológicas y MOI de los siete tipos de sordera no sindrómica LX descritos a la fecha.…”

Section: Sordera De Causa Ligada Al Cromosoma X (Lx)unclassified

“…Esta tabla se construyó y modificó con información de las tablas de G Van Camp, AE Shearer, V Corvino y G Xing. [1,2,[17][18][19][20]. La sordera ligada al cromosoma X-2 (DFNX2, OMIM 304400), también conocida como sordera conductiva con fijación congénita de la base del estribo, se acompaña de MOI y constituye aproximadamente la mitad de la sordera no sindrómica LX, causada por variantes patogénicas en el gen POU3F4.…”

Section: Sordera De Causa Ligada Al Cromosoma X (Lx)unclassified

Sordera neurosensorial congénita con malformación de oído interno ligada al X en una familia mexicana

Huesca-Hernández

Domínguez-Aburto

Aguilera-Tello

et al. 2022

Rev. Investig. Innov. Cienc. Salud

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Introducción. Las sorderas o hipoacusias prelinguales son de etiología genética entre el 60 y el 68% de los casos; de éstos, del 20 al 40% son malformaciones del oído interno. De los casos de hipoacusia no sindrómica ligada al X se han descrito siete tipos. De las malformaciones de oído interno, la partición coclear incompleta tipo III es la menos frecuente. Objetivo. Presentar el reporte clínico-genético de una familia mexicana, con individuos varones afectados por sordera neurosensorial congénita con malformación de oído interno. Material y Métodos. Se realizó estudio de una familia en la que nueve miembros presentaban sordera. Se estudiaron cuatro de ellos y una madre sin manifestaciones, a través del estudio clínico general por médico genetista, el estudio audiológico (otoscopía y audiometría) por médico audiólogo y el estudio de tomografía computada (TC) por médico radiólogo. Resultados. Los pacientes estudiados presentaron sordera neurosensorial congénita, de severa a profunda bilateral. A través de la TC, se evidenció malformación de oído interno. Tres pacientes presentaron partición coclear incompleta tipo III y un paciente partición incompleta tipo I. Debido al estudio clínico y al árbol genealógico, se definió diagnóstico de hipoacusia neurosensorial no sindrómica ligada al X. La TC de la madre sin manifestaciones no presentó evidencia de malformaciones en oído interno (MOI). Conclusión. El estudio de imagen es fundamental para definir presencia o no de MOI en todos los pacientes con hipoacusia y así poder guiar la terapéutica y el asesoramiento genético, así como realizar los estudios moleculares más adecuados.

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Molecular and clinical studies of X-linked deafness among Pakistani families

Cited by 11 publications

References 40 publications

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family

A novel mutation in POU3F4 in a Chinese family with X-linked non-syndromic hearing loss

Sordera neurosensorial congénita con malformación de oído interno ligada al X en una familia mexicana

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