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 …

The human gene SLC26A4 and the mouse ortholog Slc26a4 code for the protein pendrin,
which is an anion exchanger expressed in apical membranes of selected epithelia. In the …

Enlargement of the vestibular aqueduct (EVA) is a common inner ear malformation found in
children with sensorineural hearing loss that is frequently associated with loss-of-function or …

Hearing loss is a well-known clinical sign in the context of pendrin malfunction. Pendred
syndrome (PS) and nonsyndromic hearing loss (DFNB4) with enlarged vestibular aqueduct …

Abstract Rationale: Mutations of SLC26A4 that abrogate pendrin, expressed in
endolymphatic sac, cochlea and vestibule, are known to cause autosomal recessive …

Pendred syndrome (PS) is the most frequent form of genetically related syndromic hearing
loss, and is associated with mutations of pendrin, encoded by the SLC26A4 gene. This …

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural
hearing loss, with malformations of the inner ear, ranging from enlarged vestibular aqueduct …

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 …

Pendred's syndrome is an autosomal-recessive disorder characterized by deafness and
goiter. After our recent identification of the human gene mutated in Pendred's syndrome …

Mutations in human SLC26A4 are a common cause of hearing loss associated with
enlarged vestibular aqueducts (EVA). SLC26A4 encodes pendrin, an anion-base exchanger …