Pendred syndrome is an autosomal recessive disorder that is classically defined by the
combination of sensorineural deafness/hearing impairment, goiter, and an abnormal …

Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …

Hearing loss is a common and complex condition that can occur at any age, can be inherited
or acquired, and is associated with a remarkably wide array of etiologies. The diverse …

Purpose: Recent developments in genomics have led to expanded carrier screening panels
capable of assessing hundreds of causal mutations for genetic disease. This new …

The human solute carrier (SLC) superfamily of transporters is comprised of over 400
membrane-bound proteins, and plays essential roles in a multitude of physiological and …

Thyroid hormone biosynthesis, storage, and secretion require a series of highly regulated
steps. Iodide, the rate-limiting substrate for thyroid hormone synthesis, is actively transported …

Molecular diagnosis makes a substantial contribution to precise diagnosis, subclassification,
prognosis, and selection of therapy. Mutations in the PDS (SLC26A4) gene are known to be …

Hearing loss is a common and complex condition that can occur at any age, can be inherited
or acquired, and is associated with a remarkably wide array of etiologies. The diverse …

METHODS Subjects Our subjects consisted of 39 affected subjects with EVA and their
unaffected relatives from 31 families. A total of 84% of these families were Caucasian …

Non‐syndromic deafness is a paradigm of genetic heterogeneity with 85 loci and 39 nuclear
disease genes reported so far. Autosomal‐recessive genes are responsible for about 80 …