De Novo Large Genomic Deletions Involving POU3F4 in Incomplete Partition Type III Inner Ear Anomaly in East Asian Populations and Implications for Genetic Counseling

Choi, Jin Woong; Min, Byung Joo; Kim, Ah Reum; Koo, Ja Won; Kim, Chong Sun; Park, Woong-Yang; Chung, Juyong; Kim, Veronica; Ryu, Young Jin; Kim, Shin Hye; Chang, Sun O; Oh, Seung Ha; Choi, Byung Yoon

doi:10.1097/mao.0000000000000343

Cited by 22 publications

(26 citation statements)

References 18 publications

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“…The postoperative speech performance of IP type III subjects with the truncation or deletion mutation was found to be significantly poorer than that of controls. It has been previously reported that about 20% of DFNX2 subjects in Korea harbor a large genomic deletion involving POU3F4 . Although the mechanism responsible for the poorer performance of the truncation or deletion mutation cannot be clarified, realistic expectations can be provided to subjects with corresponding genotypes.…”

Section: Discussionmentioning

confidence: 99%

“…It has been previously reported that about 20% of DFNX2 subjects in Korea harbor a large genomic deletion involving POU3F4. 11 Although the mechanism responsible for the poorer performance of the truncation or deletion mutation cannot be clarified, realistic expectations can be provided to subjects with corresponding genotypes. This is the first study to address the possible effects of POU3F4 genotypes on CI results.…”

Section: Discussionmentioning

confidence: 99%

“…Our DFNX2 cohort was composed of 11 subjects from 10 families of which genetic etiologies had been previously reported (Fig. ) . Five of the 10 families had at least two hearing‐impaired male subjects compatible with an X‐linked recessive inheritance pattern.…”

Section: Methodsmentioning

confidence: 99%

“…2). [9][10][11] Five of the 10 families had at least two hearing-impaired male subjects compatible with an X-linked recessive inheritance pattern. We further divided the IP type III subjects documented to be DFNX2 into two subgroups, that is, an "extension or missense substitution" mutation or a "deletion or truncation" mutation subgroup, according to type of POU3F4 mutations and the expected degree or mechanism of protein disruption.…”

Section: Genetic Testsmentioning

confidence: 99%

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Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III

Choi

Song

et al. 2015

The Laryngoscope

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Genetic Testsmentioning

confidence: 99%

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Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III

Choi

Song

et al. 2015

The Laryngoscope

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“…Last but not the least, DFNX3 has already been diagnosed in molecular level, so POU3F4 gene should be screened in the outpatient persons who have the clinical phenotypes of DFNX3. [272829] Our study also has some limitations. On one hand, more pedigree and sporadic people should be recruited.…”

Section: Discussionmentioning

confidence: 97%

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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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

et al. 2018

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Due to the high genetic heterogeneity of hearing loss, current clinical testing includes sequencing large numbers of genes, which often yields a significant number of novel variants. Therefore, the standardization of variant interpretation is crucial to provide consistent and accurate diagnoses. The Hearing Loss Variant Curation Expert Panel was created within the Clinical Genome Resource to provide expert guidance for standardized genomic interpretation in the context of hearing loss. As one of its major tasks, our Expert Panel has adapted the ACMG/AMP guidelines for the interpretation of sequence variants in hearing loss genes. Here, we provide a comprehensive illustration of the newly specified ACMG/AMP hearing loss rules. Three rules remained unchanged, four rules were removed, and the remaining twenty-one rules were specified. These rules were further validated and refined using a pilot set of 51 variants assessed by curators and expert opinion. Of the 51 variants evaluated in the pilot, 37% (19/51) changed category based upon application of the expert panel specified rules and/or aggregation of evidence across laboratories. These hearing loss-specific ACMG/AMP rules will help standardize variant interpretation, ultimately leading to better care for individuals with hearing loss.

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De Novo Large Genomic Deletions Involving POU3F4 in Incomplete Partition Type III Inner Ear Anomaly in East Asian Populations and Implications for Genetic Counseling

Abstract: Our data suggest that different POU3F4 mutations might show different recurrence rate in siblings of the IP type III families, especially in East Asian population. Genetic counseling should be provided accordingly.

Cited by 22 publications

References 18 publications

Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III

Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III

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

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss

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