Electrophysiological Study of Norrie's Disease. An X-linked Recessive Trait with Hearing Loss

Overview

Journal Audiology

Specialty Otorhinolaryngology

Date 1978 Jul 1

PMID 567472

Citations 6

Authors

A Parving

C Elberling

M Warburg

Affiliations

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Abstract

3 patients with Norrie's diseas were examined with electrocochleography and brain-stem-evoked responses. The examination revealed a hearing loss of pure cochlear origin with no involvement of the brain stem. The disease is inherited as an X-linked recessive trait only affecting males with unaffected female carriers. The results are thus in agreement with previous investigations of the topical lesion in genetic hearing loss.

Citing Articles

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.

Pauzuolyte V, Patel A, Wawrzynski J, Ingham N, Leong Y, Karda R EMBO Mol Med. 2023; 15(10):e17393.

PMID: 37642150 PMC: 10565640. DOI: 10.15252/emmm.202317393.

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.

Bryant D, Pauzuolyte V, Ingham N, Patel A, Pagarkar W, Anderson L JCI Insight. 2022; 7(3).

PMID: 35132964 PMC: 8855802. DOI: 10.1172/jci.insight.148586.

Vascular defects and sensorineural deafness in a mouse model of Norrie disease.

Rehm H, Zhang D, Christian Brown M, Burgess B, Halpin C, Berger W J Neurosci. 2002; 22(11):4286-92.

PMID: 12040033 PMC: 6758776. DOI: 2002.

Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency.

Phillips C, Newton M, Duvall J, Holloway S, Levy A Br J Ophthalmol. 1986; 70(4):305-13.

PMID: 3964631 PMC: 1041004. DOI: 10.1136/bjo.70.4.305.

Close linkage between Norrie disease, a cloned DNA sequence from the proximal short arm, and the centromere of the X chromosome.

Friedrich U, Gal A, Wienker T, Warburg M, Ropers H Hum Genet. 1985; 71(3):211-4.

PMID: 2998969 DOI: 10.1007/BF00284575.