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Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 566
Author(s):  
Regie Lyn P. Santos-Cortez ◽  
Talitha Karisse L. Yarza ◽  
Tori C. Bootpetch ◽  
Ma. Leah C. Tantoco ◽  
Karen L. Mohlke ◽  
...  

Background: Hearing loss remains an important global health problem that is potentially addressed through early identification of a genetic etiology, which helps to predict outcomes of hearing rehabilitation such as cochlear implantation and also to mitigate the long-term effects of comorbidities. The identification of variants for hearing loss and detailed descriptions of clinical phenotypes in patients from various populations are needed to improve the utility of clinical genetic screening for hearing loss. Methods: Clinical and exome data from 15 children with hearing loss were reviewed. Standard tools for annotating variants were used and rare, putatively deleterious variants were selected from the exome data. Results: In 15 children, 21 rare damaging variants in 17 genes were identified, including: 14 known hearing loss or neurodevelopmental genes, 11 of which had novel variants; and three candidate genes IST1, CBLN3 and GDPD5, two of which were identified in children with both hearing loss and enlarged vestibular aqueducts. Patients with variants within IST1 and MYO18B had poorer outcomes after cochlear implantation. Conclusion: Our findings highlight the importance of identifying novel variants and genes in ethnic groups that are understudied for hearing loss.


2021 ◽  
Author(s):  
Rivka Sukenik‐Halevy ◽  
Noa Ruhrman‐Shahar ◽  
Naama Orenstein ◽  
Claudia Gonzaga‐Jauregui ◽  
Alan R. Shuldiner ◽  
...  

2021 ◽  
Vol 0 (0) ◽  
pp. 0-0
Author(s):  
Yuanzhou Wu ◽  
Qunqing Chen ◽  
Qiangzu Zhang ◽  
Man Li ◽  
Hui Li ◽  
...  

2020 ◽  
Author(s):  
Joseph S. Reddy ◽  
Mariet Allen ◽  
Xue Wang ◽  
Joanna M. Biernacka ◽  
Brandon J. Coombes ◽  
...  

AbstractBy analyzing whole-exome data from the Alzheimer’s disease sequencing project (ADSP), we identify a set of 4 genes that show highly significant association with Alzheimer’s disease (AD). These genes were identified within a human TREM2 co-expression network using a novel approach wherein prioritized polygenic score analyses were performed sequentially to identify significant polygenic components. Two of the 4 genes (TREM2, RIN3) have previously been linked to AD and two (ATP8B4, IL17RA) are novel. Like TREM2, the 2 novel AD genes are selectively expressed in human microglial cells. The most significant variants in ATP8B4 and IL17RA are non-synonymous variants with strong effects comparable to the APOE ε4 and ε2 alleles. These protein-altering variants will provide unique opportunities to further explore the biological role of microglial cells in AD and help inform future immune modulatory therapeutic development for AD.


2020 ◽  
Vol 42 (1) ◽  
pp. 50-65
Author(s):  
Yuri Uchiyama ◽  
Daisuke Yamaguchi ◽  
Kazuhiro Iwama ◽  
Satoko Miyatake ◽  
Kohei Hamanaka ◽  
...  

2020 ◽  
Vol 6 (6) ◽  
pp. e520
Author(s):  
Roxane Bunod ◽  
Diane Doummar ◽  
Sandra Whalen ◽  
Boris Keren ◽  
Sandra Chantot-Bastaraud ◽  
...  

ObjectiveTo delineate the phenotype associated with biallelic ATAD1 variants.MethodsWe describe 2 new patients with ATAD1-related disorder diagnosed by whole-exome sequencing and compare their phenotype to 6 previous patients.ResultsPatients 1 and 2 had a similar distinctive phenotype comprising congenital stiffness of limbs, absent spontaneous movements, weak sucking, and hypoventilation. Both had absent brainstem evoked auditory responses (BEARs). Patient 1 carried the homozygous p.(His357Argfs*15) variant in ATAD1. In the light of the finding in patient 1, a second reading of exome data for patient 2 revealed the novel homozygous p.(Gly128Val) variant.ConclusionsAnalysis of the phenotypes of these 2 patients and of the 6 previous cases showed that biallelic ATAD1 mutations are responsible for a unique congenital encephalopathy likely comprising absent BEAR, different from hyperekplexia and other conditions with neonatal hypertonia.


2020 ◽  
Vol 23 (1) ◽  
pp. 215-221 ◽  
Author(s):  
Lina Basel-Salmon ◽  
Noa Ruhrman-Shahar ◽  
Naama Orenstein ◽  
Yael Goldberg ◽  
Claudia Gonzaga-Jauregui ◽  
...  

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