The hereditary snydrome of congenital deafness and retinitis pigmentosa

Kloepfer, H. Warner; Laguaite, Jeannette K.

doi:10.1288/00005537-196605000-00004

Cited by 57 publications

(14 citation statements)

References 7 publications

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“…Our ophthalmological findings are not consistent with those of Kloepfer et al (1966), who found signs of retinitis pigmentosa and cataract in 13% of 31 known carriers of Ushers syndrome. It is noteworthy that with only a few exceptions a 'slight' hearing impairment measured audiometrically was found by these authors in known heterozygous carriers.…”

Section: Discussioncontrasting

confidence: 99%

Dark adaptation testing in heterozygotes of Usher's syndrome.

Sondheimer¹,

Fishman²,

Young³

et al. 1979

British Journal of Ophthalmology

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Section: Discussioncontrasting

confidence: 99%

Dark adaptation testing in heterozygotes of Usher's syndrome.

Sondheimer¹,

Fishman²,

Young³

et al. 1979

British Journal of Ophthalmology

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“…Cell lines (GM09458, GM09459 and GM09456) from an Acadian family with type 1 Usher syndrome were obtained from Coriell Cell Repositiories 21,22 . Updated information on neonatal hyperinsulinism is available on the European Network for Research into Hyperinsulinism (ENRHI) web site (http://www.phhi.u-net.com).…”

Section: Methodsmentioning

confidence: 99%

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Bitner‐Glindzicz¹,

Lindley²,

Rutland³

et al. 2000

Nat Genet

301

240

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Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive condition and is subdivided on the basis of linkage analysis into types 1A through 1E. Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (encoding components of ATP-sensitive K + (KATP) channels), which may be mutated in patients with hyperinsulinism. We identified three individuals from two consanguineous families with severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy and renal tubular dysfunction. The molecular basis of the disorder is a homozygous 122-kb deletion of 11p14-15, which includes part of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18. The centromeric boundary of this deletion includes part of a gene shown to be mutated in families with type 1C Usher syndrome, and is hence assigned the name USH1C. The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C.

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“…Acadian families in which members had Usher syndrome were described by Kloepfer et al [1966]. The phenotype is usually USH1, but two Acadian families with an USH2 phenotype have been described [Smith et al, 1992b].…”

Section: Ush1cmentioning

confidence: 99%

The Usher syndromes

Keats

Corey²

1999

Am. J. Med. Genet.

140

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Mutations in the gene (MYO7A) encoding myosin-VIIa, a member of the large superfamily of myosin motor proteins that move on cytoplasmic actin filaments, and in the USH2A gene, which encodes a novel protein resembling an extracellular matrix protein or a cell adhesion molecule, both cause Usher syndrome (USH), a clinically heterogeneous autosomal recessive disorder comprising hearing and visual impairment. Patients with USH1 have severe to profound congenital hearing impairment, vestibular dysfunction, and retinal degeneration beginning in childhood, while those with USH2 have moderate to severe hearing impairment, normal vestibular function, and later onset of retinal degeneration. USH3 is characterized by progressive hearing loss and variable age of onset of retinal degeneration. The phenotype resulting from MYO7A and USH2A mutations is variable. While most MYO7A mutations cause USH1, some cause nonsyndromic hearing impairment, and one USH3 phenotype has been described. USH2A mutations cause atypical USH as well as USH2. MYO7A is on chromosome region 11q13 and USH2A is on 1q41. Seven other USH genes have been mapped but have not yet been identified. USH1A, USH1C, USH1D, USH1E, and USH1F have been assigned to chromosome bands 14q32, 11p15.1, 10q, 21q21, and 10, respectively, while USH2B is on 5q, and USH3 is at 3q21-q25. Myosin VIIa mutations also result in the shaker-1 (sh1) mouse, providing a model for functional studies. One possibility is that myosin-VIIa is required for linking stereocilia in the sensory hair bundle; another is that it may be needed for membrane trafficking. The ongoing studies of myosin-VIIa, the USH2A protein, and the yet to be identified proteins encoded by the other USH genes will advance understanding of the Usher syndromes and contribute to the development of effective therapies. Am. J. Med. Genet. (Semin. Med. Genet.) 89:158-166, 1999.

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The hereditary snydrome of congenital deafness and retinitis pigmentosa

Cited by 57 publications

References 7 publications

Dark adaptation testing in heterozygotes of Usher's syndrome.

Dark adaptation testing in heterozygotes of Usher's syndrome.

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

The Usher syndromes

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