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 "common cause" symptom

achondroplasia

acute rheumatic fever

adrenomyeloneuropathy

allergic bronchopulmonary aspergillosis

alpha-thalassemia

aniridia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

child syndrome

coats disease

congenital adrenal hyperplasia

congenital toxoplasmosis

cushing syndrome

erdheim-chester disease

esophageal adenocarcinoma

esophageal squamous cell carcinoma

fabry disease

familial hypocalciuric hypercalcemia

hydrocephalus with stenosis of the aqueduct of sylvius

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

lamellar ichthyosis

legionellosis

liposarcoma

locked-in syndrome

malignant atrophic papulosis

neonatal adrenoleukodystrophy

neuralgic amyotrophy

pendred syndrome

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

scrub typhus

systemic capillary leak syndrome

thoracic outlet syndrome

typhoid

von hippel-lindau disease

wiskott-aldrich syndrome

zellweger syndrome

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