Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment

K Kahrizi, M Mohseni, C Nishimura… - European journal of …, 2009 - Springer
Mutations in the SLC26A4 gene at the DFNB4 locus are responsible for Pendred syndrome
and non-syndromic hereditary hearing loss (DFNB4). This study included 80 nuclear …

The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness

N Yazdanpanahi, MA Tabatabaiefar… - … Journal of Audiology, 2015 - Taylor & Francis
Objective: To determine the prevalence and types of SLC26A4 mutations and the relevant
phenotypes in a series of Iranian deaf patients. Design: A descriptive laboratory study. Study …

Identification of a founder mutation for Pendred syndrome in families from northwest Iran

M Mohseni, A Honarpour, R Mozafari… - International Journal of …, 2014 - Elsevier
Objective Mutations in the SLC26A4 gene cause both Pendred syndrome and autosomal
recessive nonsyndromic hearing loss (ARNSHL) at the DFNB4 locus. The SLC26A4 …

[HTML][HTML] Compound heterozygosity for two novel SLC26A4 mutations in a large Iranian pedigree with Pendred syndrome

N Yazdanpanahi, MA Tabatabaiefar… - Clinical and …, 2013 - ncbi.nlm.nih.gov
Objectives The aim of this study was to detect the genetic cause of deafness in a large
Iranian family. Due to the importance of SLC26A4 in causing hearing loss, information about …

SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

S Anwar, S Riazuddin, ZM Ahmed, S Tasneem… - Journal of human …, 2009 - nature.com
Pendred's syndrome (PDS) is an autosomal-recessive disorder characterized by
sensorineural hearing loss and goiter. PDS is caused by mutations of the SLC26A4 gene …

Segregation of a new mutation in SLC26A4 and p. E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome

MB Said, H Dhouib, Z BenZina, AM Ghorbel… - International Journal of …, 2012 - Elsevier
OBJECTIVE: Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can
cause sensorineural hearing loss with goiter (Pendred syndrome) or non-syndromic …

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 …

A Pera, M Villamar, A Vinuela, M Gandía… - European Journal of …, 2008 - nature.com
Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with
enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 …

Novel mutations in the SLC26A4 gene

M Busi, A Castiglione, MT Masieri, A Ravani… - International Journal of …, 2012 - Elsevier
OBJECTIVES: Mutations in the SLC26A4 gene (7q22. 3–7q31. 1) are considered one of the
most common causes of genetic hearing loss. There are two clinical forms related to these …

Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients

VCS de Moraes, NZP dos Santos, PZ Ramos… - International journal of …, 2013 - Elsevier
The SLC26A4 gene has been described as the second gene involved in most cases of
sensorineural non-syndromic hearing loss, since the first is the GJB2 gene. Recessive …

Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication

JH Jang, J Jung, AR Kim, YM Cho, MY Kim… - Audiology and …, 2014 - karger.com
Mutations in the SLC26A4 gene, which encodes pendrin, cause congenital hearing loss as
a manifestation of Pendred syndrome (PS) with an iodide organification defect or …