scholarly journals Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

2000 ◽  
Vol 67 (6) ◽  
pp. 1569-1574 ◽  
Author(s):  
Lisa M. Astuto ◽  
Michael D. Weston ◽  
Carol A. Carney ◽  
Denise M. Hoover ◽  
Cor W.R.J. Cremers ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Analysis

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

1999 ◽  
Vol 13 (2) ◽  
pp. 133-140 ◽  
Author(s):  
Andreas R. Janecke ◽  
Moritz Meins ◽  
Mojy Sadeghi ◽  
Kathrin Grundmann ◽  
Eckart Apfelstedt-Sylla ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Myosin Viia ◽  
Usher Syndrome Type

Evidence of genetic heterogeneity in congenital dyserythropoietic anaemia type I

2006 ◽  
Vol 133 (4) ◽  
pp. 444-445 ◽  
Author(s):  
Momin R. Ahmed ◽  
Mohamed Zaki ◽  
Mohamed A. Sabry ◽  
Douglas Higgs ◽  
Paresh Vyas ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Type I

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity

Brain ◽  
1993 ◽  
Vol 116 (6) ◽  
pp. 1497-1508 ◽  
Author(s):  
A. Durr ◽  
H. Chneiweiss ◽  
C. Khati ◽  
G. Stevanin ◽  
G. Cancel ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Genetic Heterogeneity ◽  
Autosomal Dominant ◽  
Phenotypic Variability ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Type I

Linkage studies of Usher syndrome: analysis of an Acadian kindred in Louisiana

1988 ◽  
Vol 47 (1-2) ◽  
pp. 111-112 ◽  
Author(s):  
M.Z. Pelias ◽  
D.R. Lemoine ◽  
A.L. kossar ◽  
L.J. Ward ◽  
A.F. Wilson ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Linkage Studies ◽  
Syndrome Analysis

scholarly journals Novel USH1G homozygous variant underlying USH2-like phenotype of Usher syndrome

2019 ◽  
pp. 112067211987939
Author(s):  
Fabiana D’Esposito ◽  
Viviana Randazzo ◽  
Gilda Cennamo ◽  
Nicola Centore ◽  
Paolo Enrico Maltese ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Usher Syndrome ◽  
Age At Onset ◽  
Vestibular Dysfunction ◽  
Sensorineural Hearing ◽  
Type I ◽  
Missense Variation

Purpose: Usher syndrome (USH) is an autosomal recessive disorder characterized by congenital sensorineural hearing impairment and retinitis pigmentosa. Classification distinguishes three clinical types of which type I (USH1) is the most severe, with vestibular dysfunction as an added feature. To date, 15 genes and 3 loci have been identified with the USH1G gene being an uncommon cause of USH. We describe an atypical USH1G-related phenotype caused by a novel homozygous missense variation in a patient with profound hearing impairment and relatively mild retinitis pigmentosa, but no vestibular dysfunction. Methods: A 26-year-old female patient with profound congenital sensorineural hearing loss, nyctalopia and retinitis pigmentosa was studied. Audiometric, vestibular and ophthalmologic examination was performed. A panel of 13 genes was tested by next-generation sequencing (NGS). Results: While the hearing loss was confirmed to be profound, the vestibular function resulted normal. Although typical retinitis pigmentosa was present, the age at onset was unusually late for USH1 syndrome. A novel homozygous missense variation (c.1187T>A, p.Leu396Gln) in the USH1G gene has been identified as causing the disease in our patient. Conclusions: Genetic and phenotypic heterogeneity are very common in both isolated and syndromic retinal dystrophies and sensorineural hearing loss. Our findings widen the spectrum of USH allelic disorders and strength the concept that variants in genes that are classically known as underlying one specific clinical USH subtype might result in unexpected phenotypes.

scholarly journals Evidence for a fourth locus in Usher syndrome type I.

1996 ◽  
Vol 33 (1) ◽  
pp. 77-79 ◽  
Author(s):  
S Gerber ◽  
D Larget-Piet ◽  
J M Rozet ◽  
D Bonneau ◽  
M Mathieu ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Type I ◽  
Syndrome Type ◽  
Usher Syndrome Type

Living with type I Usher syndrome: insights from patients and their parents

2020 ◽  
Vol 41 (3) ◽  
pp. 240-251
Author(s):  
Aude Roborel de Climens ◽  
Béatrice Tugaut ◽  
Andrea Piscopo ◽  
Benoit Arnould ◽  
Ronald Buggage ◽  
...  
Keyword(s):  
Usher Syndrome ◽  
Type I

Evidence for Genetic Heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type I (CDG1)

Genomics ◽  
1996 ◽  
Vol 35 (3) ◽  
pp. 597-599 ◽  
Author(s):  
Gert Matthijs ◽  
Eric Legius ◽  
Els Schollen ◽  
Petra Vandenberk ◽  
Jaak Jaeken ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Type I ◽  
Syndrome Type ◽  
Glycoprotein Syndrome Type ◽  
Carbohydrate Deficient Glycoprotein Syndrome
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