Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Two missense mutations in SLC26A4 gene: A molecular and functional study
Clinical Genetics, Volume 78, No. 1, Year 2010
Notification
URL copied to clipboard!
Description
Mutations in the SLC26A4 gene encoding pendrin, an anion transporter, are responsible for non-syndromic hearing loss (HL) (DFNB4) and Pendred syndrome (PS). PS is a genetic disorder that causes early HL and affects the thyroid gland. Here, we report eight Tunisian families affected with profound HL. Clinical investigations revealed goiter in few patients. Genotyping using microsatellite makers showed linkage to SLC26A4, and missense mutations p.L445W and p.M147T were identified by sequencing and polymerase chain reaction-restriction fragment length polymorphism. The p.L445W mutation segregated in seven families and haplotype analysis suggested its founder effect. In order to understand the molecular pathogenic mechanisms of p.L445W and p.M147T mutations, SLC26A4 wild-type and mutant cDNA constructs were transiently expressed in COS7 cells and several human cell lines including Thyroid 8305C cells. Reverse transcription-PCR, western blot and immunofluorescence demonstrated that these two mutations abolished complex glycosylation of pendrin and prevented its targeting to the plasma membrane. © 2010 John Wiley & Sons A/S.
Authors & Co-Authors
Ben-Rebeh, Imen
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Yoshimi, N.
Japan, Tsukuba
University of Tsukuba
Hadj Kacem, Hassen
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Yanohco, S.
Japan, Tsukuba
University of Tsukuba
Hammami, Bouthaina
Tunisia, Sfax
Chu Habib Bourguiba
Mnif, Mouna Feki
United States
Laboratoire International Associé
Araki, Masahiro
Japan, Tsukuba
University of Tsukuba
Ghorbel, Abdelmonem
Tunisia, Sfax
Chu Habib Bourguiba
Ayadi, Hammadi
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Masmoudi, Saber
Tunisia, Sfax
Centre de Biotechnologie de Sfax
Miyazaki, Hitoshi
Japan, Tsukuba
University of Tsukuba
Statistics
Citations: 15
Authors: 11
Affiliations: 4
Identifiers
Doi:
10.1111/j.1399-0004.2009.01360.x
ISSN:
00099163
e-ISSN:
13990004
Research Areas
Cancer
Disability
Genetics And Genomics