▪ Abstract Hereditary isolated hearing loss is genetically highly heterogeneous. Over 100
genes are predicted to cause this disorder in humans. Sixty loci have been reported and 24 …

Given the unique biological requirements of sound transduction and the selective advantage
conferred upon a species capable of sensitive sound detection, it is not surprising that up to …

The gene responsible for autosomal dominant, fully penetrant, nonsyndromic sensorineural
progressive hearing loss in a large Costa Rican kindred was previously localized to …

Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by
enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal …

Primary--ie, nonsyndromal-postlingual deafness is inherited as an autosomal dominant
phenotype in a large kindred in Costa Rica. Genetically susceptible individuals begin to lose …

The transport system in cochlear hair cells (HCs) is important for their function, and the
kinesin family of proteins transports numerous cellular cargos via the microtubule network in …

Background At least half of the cases of profound deafness of early onset are caused by
genetic factors, but few of the genetic defects have been identified. This is particularly true of …

• We report the clinical and otopathologic findings in three persons from two kindreds
affected with adult-onset autosomal dominant progressive sensorineural hearing loss. The …

Literature and clinical practice around adult‐onset hearing loss (HL) has traditionally
focused on environmental risk factors, including noise exposure, ototoxic drug exposure …

Background Autosomal dominant, nonsyndromic, hereditary hearing impairment in a large
Costa Rican kindred is caused by a mutation in the human homolog of …