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.

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

2006 ◽  
Vol 121 (2) ◽  
pp. 203-211 ◽  
Author(s):  
Inga Ebermann ◽  
Hendrik P. N. Scholl ◽  
Peter Charbel Issa ◽  
Elvir Becirovic ◽  
Jürgen Lamprecht ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Usher Syndrome ◽  
Sensorineural Hearing ◽  
Syndrome Type ◽  
Novel Gene ◽  
Usher Syndrome Type

scholarly journals Audiological and otologic manifestations of glutaric aciduria type I

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Yen-Chi Chen ◽  
Chii-Yuan Huang ◽  
Yen-Ting Lee ◽  
Chia-Hung Wu ◽  
Sheng-Kai Chang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Past History ◽  
Glutaric Aciduria Type ◽  
Sensorineural Hearing ◽  
Neurological Deficits ◽  
Type I ◽  
Glutaric Aciduria ◽  
Icu Admission

Abstract Background Glutaric aciduria type 1 (GA-1) is a rare disease connected with speech delay and neurological deficits. However, the audiological and otologic profiles of GA-1 have not yet been fully characterized. To our knowledge, this is the largest study of comprehensive audiological and otologic evaluation in patients with GA-1 to date. Methods Thirteen patients diagnosed with GA-1 between January 1994 and December 2019 with audiological, radiological and genetic manifestations were retrospectively analyzed. Hearing tests were performed in all patients. MRI was performed for radiological evaluation. Results Hearing loss was found in 76.9% (10/13) of GA-1 patients, including slight hearing loss in 46.1% (6/13) of patients, mild hearing loss in 15.4% (2/13) of patients, and moderate hearing loss in 7.7% (1/13) of patients. Normal hearing thresholds were seen in 23% (3/13) of patients. Patients with intensive care unit (ICU) admission history showed significantly worse hearing than those without (29.17 ± 12.47 vs 13.56 ± 3.93 dB HL, 95% CI 2.92–24.70, p = 0.0176). One patient had moderate sensorineural hearing loss and a past history of acute encephalopathic crisis. No usual causative gene mutations associated with hearing loss were found in these patients. MRI showed a normal vestibulocochlear apparatus and cochlear nerve. One patient with extensive injury of the basal ganglia on MRI after acute encephalopathic crisis was found to have moderate sensorineural hearing loss. Two patients with disability scores above 5 were found to have mild to moderate hearing impairment. No obvious correlation between macrocephaly and hearing loss was found. Conclusion A high prevalence of hearing impairment is found in GA-1 patients. Adequate audiological evaluation is essential for these patients, especially for those after encephalopathic crises or with ICU admission history.

scholarly journals Usher Syndrome: Genetics of a Human Ciliopathy

2021 ◽  
Vol 22 (13) ◽  
pp. 6723
Author(s):  
Carla Fuster-García ◽  
Belén García-Bohórquez ◽  
Ana Rodríguez-Muñoz ◽  
Elena Aller ◽  
Teresa Jaijo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Retinitis Pigmentosa ◽  
Sensorineural Hearing Loss ◽  
Autosomal Recessive ◽  
Age Of Onset ◽  
Usher Syndrome ◽  
Organ Of Corti ◽  
Sensorineural Hearing ◽  
Protein Network ◽  
Phenotype Correlation

Usher syndrome (USH) is an autosomal recessive syndromic ciliopathy characterized by sensorineural hearing loss, retinitis pigmentosa and, sometimes, vestibular dysfunction. There are three clinical types depending on the severity and age of onset of the symptoms; in addition, ten genes are reported to be causative of USH, and six more related to the disease. These genes encode proteins of a diverse nature, which interact and form a dynamic protein network called the “Usher interactome”. In the organ of Corti, the USH proteins are essential for the correct development and maintenance of the structure and cohesion of the stereocilia. In the retina, the USH protein network is principally located in the periciliary region of the photoreceptors, and plays an important role in the maintenance of the periciliary structure and the trafficking of molecules between the inner and the outer segments of photoreceptors. Even though some genes are clearly involved in the syndrome, others are controversial. Moreover, expression of some USH genes has been detected in other tissues, which could explain their involvement in additional mild comorbidities. In this paper, we review the genetics of Usher syndrome and the spectrum of mutations in USH genes. The aim is to identify possible mutation associations with the disease and provide an updated genotype–phenotype correlation.

Evidence of Progressive Delay of Motor Development in Children with Sensorineural Hearing Loss and Concurrent Vestibular Dysfunction

2000 ◽  
Vol 90 (3_suppl) ◽  
pp. 1101-1112 ◽  
Author(s):  
Rose Marie Rine ◽  
Gabrielle Cornwall ◽  
Karen Gan ◽  
Christian LoCascio ◽  
Todd O'Hare ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Motor Development ◽  
Vestibular Dysfunction ◽  
Sensorineural Hearing

scholarly journals Vestibular prognosis in idiopathic sudden sensorineural hearing loss with vestibular dysfunction treated with oral or intratympanic glucocorticoids: a protocol for randomized controlled trial

2020 ◽  
Author(s):  
Huawei Li ◽  
Weiming Hao ◽  
Liping Zhao ◽  
Huiqian Yu
Keyword(s):  
Randomized Controlled Trial ◽  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Controlled Trial ◽  
Vestibular Function ◽  
Vestibular Dysfunction ◽  
Sudden Sensorineural Hearing Loss ◽  
Sensorineural Hearing ◽  
Hearing Outcome ◽  
Randomized Controlled

Abstract Background Idiopathic sudden sensorineural hearing loss (ISSNHL) is a rapid-onset sensorineural hearing impairment with unclear etiology and unsatisfying treatment effects. Vestibular dysfunction has been considered as a poor indicator in the clinical manifestations and prognosis of ISSNHL, which occurred in approximately 28%-57% cases. Glucocorticoids, administered through oral or intratympanic way, is currently a regular and standard treatment for ISSNHL based on hearing outcome. However, little investigations have been conducted on the recovery process and treatment effects of glucocorticoids on vestibular dysfunctions of ISSNHL. This study aims to compare the efficacy of oral or intratympanic glucocorticoids in ISSNHL with vestibular dysfunction in terms of the pattern and trajectory of possible process of vestibular function recovery.Methods/Design A randomized, outcome-assessor- and analyst-blinded, controlled, clinical trial (RCT) will be carried out. A group of seventy-two patients with ISSNHL complaining of vestibular dysfunction appearing as vertigo, dizziness or imbalance will be recruited and randomized into two arms of either oral or intratympanic glucocorticoids therapy with a 1:1 allocation ratio. The primary outcomes will be vestibular function outcomes assessed by sensory organization test, caloric test, video head impulse test, and vestibular evoked myogenic potentials; the secondary outcomes include self-reported vestibular dysfunction symptoms; dizziness-related handicap, visual analogue scale for vertigo and tinnitus; and pure tone audiometry. Assessment will be performed at baseline and at 1, 2, 4, and 8 weeks post-randomization. To our knowledge, this will be the first randomized controlled trial focusing on the prognosis of vestibular dysfunction in ISSNHL and the efficacy of glucocorticoids therapy for the vestibular dysfunction in this disease.Discussion This trial will be the first RCT study focusing on the progress and prognosis of vestibular dysfunction in ISSNHL. Efficacy of two commonly used therapies of glucocorticoids will be compared in both auditory and vestibular function fields, rather than in the hearing outcome alone. Trial registration ClinicalTrials.gov, NCT03974867. Registered on July 23, 2019.

Aminoglycoside Ototoxicity in the Neonatal Period: Possible Etiologic Factor in Delayed Postural Control

1981 ◽  
Vol 89 (5) ◽  
pp. 818-821 ◽  
Author(s):  
Lydia Eviatar ◽  
Abraham Eviatar
Keyword(s):  
Hearing Loss ◽  
Postural Control ◽  
Sensorineural Hearing Loss ◽  
Neonatal Period ◽  
Vestibular Dysfunction ◽  
Untreated Group ◽  
Sensorineural Hearing ◽  
Etiologic Factor ◽  
Aminoglycoside Ototoxicity ◽  
Laboratory Evidence

Forty-three infants, treated with aminoglycosides during the neonatal period, were tested repeatedly over a period of two to five years for neurovestibular responses. Results of testing were compared with those obtained from a group of 276 healthy newborns followed simultaneously. No abnormalities were found in the untreated group. Among the treated infants, three had a sensorineural hearing loss and eight had laboratory evidence of vestibular dysfunction and delay of head and postural control.

Acupuncture and Sensorineural Hearing Loss: A Review

1975 ◽  
Vol 40 (4) ◽  
pp. 427-433 ◽  
Author(s):  
Harvey A. Taub
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Hearing Impairment ◽  
Placebo Effect ◽  
Sensorineural Hearing ◽  
Hearing Ability ◽  
Sensorineural Hearing Impairment

Recent reports concerning the use of acupuncture as a possible treatment for sensorineural hearing impairment were reviewed and evaluated. It was concluded that acupuncture has no effect upon the hearing ability of individuals with sensorineural losses. Further, it was suggested that subjective feelings of improvement represent a placebo effect resulting from the application of a treatment that patients believe might work and not from acupuncture itself.

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