Moreover, AP180 deletion led to a high prevalence of SVs in a multi-tethered or docked state after stimulation, a reduced rate of SV replenishment, and a hearing impairment.
We identified a novel pathogenic homozygous c.948A>G (p.Ile316Met) mutation in the MET gene in one deaf Moroccan young girl carrying a total bilateral non-syndromic hearing impairment.
PubMed, CINALH, ERIC, LLBA, PsychINFO, and ISI Web of Science were searched for unilateral hearing impairment with its synonyms and consequences of congenital or early onset unilateral hearing impairment.
This deletion may reveal a new contiguous deletion syndrome in which ELMOD3, known to be implicated in autosomal recessive deafness underlies the HI of the proband and CAPG, member of actin regulatory proteins involved in cytoskeletal dynamic, an important function for brain development and activity, underlies the ASD/ID phenotype.
Our finding associates Elmod3 deficiencies with stereocilia dysmorphologies and reveals that it might play roles in the actin cytoskeleton dynamics in cochlear hair cells and thus relate to hearing impairment.
In addition, administration of inhibitors to IL-1β, IL-6 and TNF-α attenuated amplification of GAT-1 and GAT-3 and improved hearing impairment induced by cisplatin.
We identified the c.226C>T mutation of PRKCG, which caused the p.R76X in PKCγ by whole-exome sequencing in patients presenting cerebellar atrophy with cognitive and hearing impairment.
By contrast, prolonged pharmacological suppression of BACE1 activity in adult wild-type mice did not reproduce the hearing deficit or the cochlear abnormalities of BACE1 null mice.
In addition, administration of inhibitors to IL-1β, IL-6 and TNF-α attenuated amplification of GAT-1 and GAT-3 and improved hearing impairment induced by cisplatin.
In patients with both visual and hearing impairments, the biallelic disease-causing mutation rate was assessed for each Usher gene to propose a classification by frequency: USH2A: 50% (341/684) of patients, MYO7A: 21% (144/684), CDH23: 6% (39/684), ADGRV1: 5% (35/684), PCDH15: 3% (21/684), USH1C: 2% (17/684), CLRN1: 2% (14/684), USH1G: 1% (9/684), WHRN: 0.4% (3/684), PDZD7 0.1% (1/684), CIB2 (0/684).
In our study, using copy number variants (CNV) analysis, we identified a rare homozygous deletion in 2p11.2 region that affects ELMOD3, CAPG, and SH2D6 genes in a boy with ASD, intellectual disability (ID), and hearing impairment (HI).
Hearing impairment had to be of at least a moderate degree with PTA ≥40 dB averaged over frequencies 0.5 to 2 or 0.5-4 kHz, hearing in the contralateral ear had to have PTA<sub>0.5-2 kHz</sub> or PTA<sub>0.5-4 kHz</sub> ≤ 20 dB, and consequences of unilateral hearing impairment needed to be reported in an unanimously defined population in at least one of the areas the review focused on.
While the CT confirmed superior semicircular canal dehiscence, the results of cVEMP was not typical of SCD likely due to preexisting hearing impairment in the right ear with a history of middle ear surgeries for the treatment of PET.
Hearing impairment had to be of at least a moderate degree with PTA ≥40 dB averaged over frequencies 0.5 to 2 or 0.5-4 kHz, hearing in the contralateral ear had to have PTA<sub>0.5-2 kHz</sub> or PTA<sub>0.5-4 kHz</sub> ≤ 20 dB, and consequences of unilateral hearing impairment needed to be reported in an unanimously defined population in at least one of the areas the review focused on.
We show that myopathy is confirmed by histology and muscle imaging only in some patients, and that hearing impairment is predominantly sensorineural and may not be present in all individuals.ConclusionOur data further support the extensive clinical overlap with PLOD1-kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS.