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Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.

Abstract：

:Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear malformations in hearing loss patients including Pendred syndrome. While biallelic mutations of the SLC26A4 gene, encoding pendrin, causes non-syndromic hearing loss with EVA or Pendred syndrome, a considerable number of patients appear to carry mono-allelic mutation. This suggests faulty pendrin regulatory machinery results in hearing loss. Here we identify EPHA2 as another causative gene of Pendred syndrome with SLC26A4. EphA2 forms a protein complex with pendrin controlling pendrin localization, which is disrupted in some pathogenic forms of pendrin. Moreover, point mutations leading to amino acid substitution in the EPHA2 gene are identified from patients bearing mono-allelic mutation of SLC26A4. Ephrin-B2 binds to EphA2 triggering internalization with pendrin inducing EphA2 autophosphorylation weakly. The identified EphA2 mutants attenuate ephrin-B2- but not ephrin-A1-induced EphA2 internalization with pendrin. Our results uncover an unexpected role of the Eph/ephrin system in epithelial function.

journal_name

Nat Commun

journal_title

Nature communications

authors

Li M,Nishio SY,Naruse C,Riddell M,Sapski S,Katsuno T,Hikita T,Mizapourshafiyi F,Smith FM,Cooper LT,Lee MG,Asano M,Boettger T,Krueger M,Wietelmann A,Graumann J,Day BW,Boyd AW,Offermanns S,Kitajiri SI,Usami SI,Nak

doi

10.1038/s41467-020-15198-9

subject

Has Abstract

pub_date

2020-03-12 00:00:00

pages

1343

issue

1

issn

2041-1723

pii

10.1038/s41467-020-15198-9

journal_volume

11

pub_type

杂志文章

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