An Introduction to the Genetics of Normal and Defective Hearing a

  title={An Introduction to the Genetics of Normal and Defective Hearing a},
  author={Alessandro Martini and Manuela Mazzoli and William J. Kimberling},
  journal={Annals of the New York Academy of Sciences},
The recent rapid development of molecular biology techniques applied to the genetics of normal and defective hearing shed a new light on old questions regarding hearing and deafness. Genes are DNA sequences that determine characteristics, normally by specifying the sequence of aminoacids in a protein. The majority of genes is located in the chromosomes (human chromosomes have perhaps 80,000 pairs of genes). In addition there are 37 mithochondrial genes which are inherited only from the mother… 

Identification of genes expressed in the Xenopus inner ear.

Investigations of gene expression in Xenopus auditory organs using clones recovered from inner ear cDNA libraries should provide insight regarding the molecular basis of hearing.

Histopathology and molecular genetics of hearing loss in the human.

Audiometric Characterization of a Family with Digenic Autosomal, Dominant, Progressive Sensorineural Hearing Loss

It is concluded that both types had an outer hair cell/micro-mechanical abnormality, but that the DFNA 2 type might have an additional dysfunction at the level of the inner hair cells.

Molecular investigation of mtDNA A1555G, A3243G and A7445G mutations among the non syndromic hearing loss cases in Fars, Iran

The data indicated that the mitochondrial A1555G, A3243 and A7445G mutations have no role in auditory deficits in patients studied and are not implicated in Syndrom-free hearing loss.

Auditory and vestibular defects in the circling (ci2) rat mutant

The histological findings in mutant circling rats strongly indicate that the hearing loss of the mutants is of the sensory neural type, the most prevalent type of hearing loss.

Cochlear Synaptopathy due to Mutations in OTOF Gene May Result in Stable Mild Hearing Loss and Severe Impairment of Speech Perception

Findings indicate that disordered synchrony in auditory fiber activity underlies the impairment of speech perception in patients carrying biallelic mutations in OTOF gene who show a stable phenotype of mild hearing loss.

Summary: Progress in Inner‐ear Immunology a

  • A. Ryan
  • Medicine, Biology
    Annals of the New York Academy of Sciences
  • 1997
It can be argued that even greater interest in inner-ear immunology has been stimulated by growing evidence of clinical manifestations of immune response within the inner ear, an organ that was once thought to be immunopriviledged.

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.



Genes and deafness.

A type VII myosin encoded by the mouse deafness gene shaker-1

The shl gene encodes an unconventional myosin molecule of the type VII family, which is the first molecule to be identified that is known, by virtue of its mutations, to be involved in auditory transduction.

Inherited hearing defects in mice.

  • K. Steel
  • Biology
    Annual review of genetics
  • 1995
The distribution of candidate genes for deafness across the mouse genome is presented, together with a summary of the key features of the mutants involved, and the effects of mutations in orthologous genes involved in the auditory system in humans and mice are compared.

Strategies for constructing a guinea pig organ of Corti cDNA library and its potential use.

  • E. Wilcox
  • Biology, Medicine
    Otolaryngologic clinics of North America
  • 1992

Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening.

A combination of subtractive hybridization and differential screening strategies is used to identify genes that may function normally in hearing and, when mutated, result in deafness, as well as clones that are potential novel cochlear genes.

cDNA cloning, tissue distribution, and chromosomal localization of Ocp2, a gene encoding a putative transcription-associated factor predominantly expressed in the auditory organs.

The cloning of the OCP2 gene encoding OCP-II from a guinea pig organ-of-Corti cDNA library and Immunohistochemical staining of paraffin-embedded sections of the cochlea showed that OCP -II is localized abundantly in nonsensory cells in the organ of Corti.

Defective myosin VIIA gene responsible for Usher syndrome type IB

Evidence is presented that a gene encoding myosin VIIA is responsible for USH1B and that USH IB appears as a primary cytoskeletal protein defect, which implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome.

Cloning genes from an inner ear cDNA library.

A rat inner ear complementary DNA library containing 1.9 x 10(6) recombinants was constructed and evaluated, showing a high degree of homology to several long interspersed DNA elements, neuron-specific nuclear transcripts thought to be involved in gene regulation.

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

A C→A transversion in codon 23 (corresponding to a proline →histidine substitution) in 17 of 148 unrelated patients and not in any of 102 unaffected individuals indicates that this mutation could be the cause of one form of autosomal dominant retinitis pigmentosa.