Genetic testing can provide an accurate diagnosis, contributing to appropriate treatment,
prognosis and precise genetic counseling for patients with hearing loss. It is estimated that …

Thanks to the advent of rapid DNA sequencing technology and its prevalence, many
disease‐associated genetic variants are rapidly identified in many genes from patient …

Sequence alterations in the pendrin gene (SLC26A4) leading to functionally affected protein
variants are frequently involved in the pathogenesis of syndromic and nonsyndromic …

Genomic technology has completely changed the way in which we are able to diagnose
human genetic mutations. Genomic techniques such as the polymerase chain reaction …

Abstract Human pendrin (SCL26A4, PDS) is a 780 amino acid integral membrane protein
with transport function. It acts as an electroneutral, sodium-independent anion exchanger for …

Mutations in SLC26A4 can cause deafness and goiter in Pendred syndrome (PDS) or
isolated non-syndromic enlargement of the vestibular aqueduct (NSEVA). PDS is one of the …

Background Mutations in the SLC26A4 gene, which encodes the anion transporter, pendrin,
are a major cause of autosomal recessive non-syndromic hearing loss (NSHL) in some …

The SLC26A4 gene, which encodes the anion exchanger pendrin, is involved in
determining syndromic (Pendred syndrome) and non-syndromic (DFNB4) autosomal …

Abstract In 1896, Vaughan Pendred, MD, wrote a case report about two siblings that
presented with hearing loss and goiter. This initial report was followed over the next 100 …

For over 100 years after the first description of the disorder, the molecular pathology
underlying the deafness and thyroid pathology in Pendred syndrome (PS) remained …