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Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.

Abstract：

:Patients with PS or non-syndromic deafness were submitted to genetic/functional analyzes of SLC26A4, of its binding domain for FOXI1 (FOXI1-DBD), of the transcription activator FOXI1, and of the potassium channel KCNJ10. SLC26A4 was the most frequently mutated gene. An altered intracellular localization with immunocytochemistry, and a hampered maturation process were demonstrated for two novel SLC26A4 variants. Biochemical and immunocytochemical analyzes led to the development of a more sensitive fluorometric functional assay able to reveal the partial loss-of-function of SLC26A4 mutations. A novel missense variant was found in FOXI1 gene, though functional analysis showed no significant impairment in the transcriptional activation of SLC26A4. Finally, 3 patients were found to harbor a variant in KCNJ10, which was classified as polymorphism. The novelty of the study resides in the analysis of all the 4 candidate genetic loci linked to PS/non-syndromic deafness, and in the precise definition of the thyroid phenotype. PS was invariably associated with biallelic mutations of SLC26A4, whereas the genetic origin of non-syndromic deafness remained largely undetermined, since monoallelic SLC26A4 variants accounted for one fourth of the cases and FOXI1 and KCNJ10 were not involved in this series.

journal_name

Mol Cell Endocrinol

journal_title

Molecular and cellular endocrinology

authors

Cirello V,Bazzini C,Vezzoli V,Muzza M,Rodighiero S,Castorina P,Maffini A,Bottà G,Persani L,Beck-Peccoz P,Meyer G,Fugazzola L

doi

10.1016/j.mce.2012.01.013

subject

Has Abstract

pub_date

2012-04-04 00:00:00

pages

342-50

issue

2

eissn

0303-7207

issn

1872-8057

pii

S0303-7207(12)00033-0

journal_volume

351

pub_type

杂志文章

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