Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.

[pendred syndrome]

Mutation of SLC 26 A 4 is the most common cause of prelingual hearing loss in East Asia . Patients with SLC 26 A 4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome . Here , we analyzed the correlation between genotype and various inner ear phenotypes and found a possible underlying mechanism . This study included 111 patients with bi -allelic SLC 26 A 4 mutations who had bilateral enlarged vestibular aqueduct (EVA ) and hearing loss . p .H 723 R (61 %), c .919 -2 A >G (24 %), and p .T 410 M (4 %) were the most common mutations in Korean patients with EVAs . Residual hearing in patients with c .919 -2 A >G or p .T 410 M mutations was better than that of patients with p .H 723 R homozygous mutations . Interestingly , quantitative polymerase chain reaction showed normal pendrin transcript (6 -17 % of normal levels ) was produced from patients with c .919 -2 A >G homozygous mutations . Surface expression ratio of pendrin and residual anion exchange activity were higher in cells transfected with p .T 410 M in comparison to cells transfected with p .H 723 R . These results suggest that there is a correlation between degree of residual hearing and the SLC 26 A 4 genotype commonly found in the East Asian population .

Diseases
Validation

Diseases presenting "bilateral enlarged vestibular aqueduct" symptom

pendred syndrome

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