Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of the SLC26A4 gene: a case report and literature review

Article Pediatrics

Atypical Presentation of Enlarged Vestibular Aqueducts Caused by SLC26A4 Variants

Jun Chul Byun et al.

Summary: This article reports a new presentation of enlarged vestibular aqueduct in a Korean family, including the presence of SLC26A4 variations in family members and incomplete Horner syndrome in the third daughter.

CHILDREN-BASEL (2022)

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Article Genetics & Heredity

A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family

Ting Wu et al.

Summary: This study identified a novel heterozygous mutation c.2029C > T in the SLC26A4 gene, which is pathogenic and contributes to the development of EVA. This finding expands the spectrum of variants in the SLC26A4 gene.

BMC MEDICAL GENOMICS (2022)

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Review Genetics & Heredity

Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss

Keiji Honda et al.

Summary: Mutations in SLC26A4 can cause Pendred syndrome and DFNB4, with the CEVA haplotype potentially influencing the phenotype in EVA patients.

HUMAN GENETICS (2022)

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Review Medicine, Research & Experimental

Cochlear Implantation in Pediatric Patients With Enlarged Vestibular Aqueduct: A Systematic Review

Liliya Benchetrit et al.

Summary: The study describes outcomes of cochlear implantation in children with enlarged vestibular aqueduct and incomplete partition type 2. The results show significant improvement in speech perception, auditory, and language performance among these children, with outcomes comparable to control children without inner ear malformations.

LARYNGOSCOPE (2022)

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Article Genetics & Heredity

Compound heterozygous variants of the SLC26A4 gene in a Chinese family with enlarged vestibular aqueducts

Xiaohui He et al.

Summary: This study investigated the genetic causes of hearing loss in patients with enlarged vestibular aqueduct (EVA) and identified a novel missense mutation in the SLC26A4 gene. This mutation, c.2069T>A, in compound heterozygosity with c.1174A>T, is likely to be the cause of hearing loss. The findings expand the gene mutation spectrum of SLC26A4 and provide valuable knowledge for diagnosis and genetic counseling associated with EVA-induced hearing loss.

BMC MEDICAL GENOMICS (2022)

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Article Audiology & Speech-Language Pathology

Effect of Cochlear Implantation on Hearing Fluctuation in Patients with Biallelic SLC26A4 Variants

Gina Na et al.

Summary: In patients with biallelic SLC26A4 variants, cochlear implantation may reduce the frequency and extent of hearing fluctuations. Higher residual hearing is not a positive predictor for hearing fluctuation.

AUDIOLOGY AND NEURO-OTOLOGY (2021)

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Article Genetics & Heredity

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene

Yongan Tian et al.

Summary: The study developed a new molecular diagnosis panel for EVA using multiplex PCR enrichment and next-generation sequencing, which showed a significant diagnostic yield for EVA patients.

MOLECULAR GENETICS & GENOMIC MEDICINE (2021)

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Article Otorhinolaryngology