22q11.2 Deletion Syndrome (22q11DS) arises from an interstitial chromosomal microdeletion encompassing at least 30 genes. This disorder is one of the most significant known cytogenetic risk factors for schizophrenia, and can also cause heart abnormalities, cognitive deficits, hearing difficulties, and a variety of other medical problems. The Df1/+ hemizygous knockout mouse, a model for human 22...

Cellular heterogeneity hinders the extraction of functionally significant results and inference of regulatory networks from wide-scale expression profiles of complex mammalian organs. The mammalian inner ear consists of the auditory and vestibular systems that are each composed of hair cells, supporting cells, neurons, mesenchymal cells, other epithelial cells, and blood vessels. We developed a...

Hypohidrotic ectodermal dysplasia (HED) results from mutation of the EDA, EDAR or EDARADD genes and is characterized by reduced or absent eccrine sweat glands, hair follicles and teeth, and defective formation of salivary, mammary and craniofacial glands. Mouse models with HED also carry Eda, Edar or Edaradd mutations and have defects that map to the same structures. Patients with HED have ear,...

The Brn-3 subfamily of POU-domain transcription factor genes consists of three highly homologous members-Brn-3a, Brn-3b, and Brn-3c-that are expressed in sensory neurons and in a small number of brainstem nuclei. This paper describes the role of Brn-3c in auditory and vestibular system development. In the inner ear, the Brn-3c protein is found only in auditory and vestibular hair cells, and the...

With the completion of the sequencing of the human genome, the field of medicine is undergoing a dramatic and fundamental change. The identification of our genes and the proteins they encode and the mechanisms of mutations that are pathogenic will allow us to devise revolutionary new ways to diagnose, treat and prevent the thousands of disorders that affect us. Certainly, disorders of the audit...

We have identified a previously unannotated catechol-O-methyltranferase (COMT), here designated COMT2, through positional cloning of a chemically induced mutation responsible for a neurobehavioral phenotype. Mice homozygous for a missense mutation in Comt2 show vestibular impairment, profound sensorineuronal deafness, and progressive degeneration of the organ of Corti. Consistent with this phen...

The MicroTactus is a family of instruments that we have designed to detect signals arising from the interaction of a tip with soft or hard objects and to magnify them for haptic and auditory reproduction. We constructed an enhanced arthroscopic surgical probe and tested it in detecting surface defects of a cartilage-like material. Elastomeric samples were cut at different depths and mixed with ...

We have developed an automated, high-throughput behavioral screening method for detecting hearing defects in zebrafish. Our assay monitors a rapid escape reflex in response to a loud sound. With this approach, 36 adult zebrafish, restrained in visually isolated compartments, can be simultaneously assessed for responsiveness to near-field 400 Hz sinusoidal tone bursts. Automated, objective deter...

Objectives: The aim of the present study was to assess the auditory lateralization ability in children with (central) auditory processing disorder. Methods: Participants were divided in two groups: 15 children with Central Auditory Processing Disorder (8-10 years) and 80 normal children (8-11 years) from both genders with pure-tone air-conduction thresholds better than 20 dB HL bilaterally a...