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5 results on '"McDonnell, Pamela Pojomovsky"'

1. Corrigendum: Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

Author

Kassabian, Benedetta, primary, Fenger, Christina Dühring, additional, Willems, Marjolaine, additional, Aledo-Serrano, Angel, additional, Linnankivi, Tarja, additional, McDonnell, Pamela Pojomovsky, additional, Lusk, Laina, additional, Jepsen, Birgit Susanne, additional, Bayat, Michael, additional, Kattentidt-Mouravieva, Anja A., additional, Vidal, Anna Abulí, additional, Valero-Lopez, Gabriel, additional, Alarcon-Martinez, Helena, additional, Goodspeed, Kimberly, additional, van Slegtenhorst, Marjon, additional, Barakat, Tahsin Stefan, additional, Møller, Rikke S., additional, Johannesen, Katrine M., additional, and Rubboli, Guido, additional

Published
2023
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2. A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsy

Author

Molisani, Sara E., primary, Parikh, Darshana, additional, DiGiovine, Marissa, additional, Dlugos, Dennis, additional, Fitzgerald, Mark P., additional, Fried, Lawrence, additional, Helbig, Ingo, additional, Kessler, Sudha Kilaru, additional, McDonnell, Pamela Pojomovsky, additional, Melamed, Susan, additional, Prelack, Marisa S., additional, Sharif, Uzma, additional, Tefft, Sarah, additional, Tencer, Jaclyn, additional, Witzman, Stephanie, additional, Shaw, Kathy, additional, and Abend, Nicholas S., additional

Published
2023
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3. Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

Author

Kassabian, Benedetta, primary, Fenger, Christina Dühring, additional, Willems, Marjolaine, additional, Aledo-Serrano, Angel, additional, Linnankivi, Tarja, additional, McDonnell, Pamela Pojomovsky, additional, Lusk, Laina, additional, Jepsen, Birgit Susanne, additional, Bayat, Michael, additional, Kattentidt-Mouravieva, Anja A., additional, Vidal, Anna Abulí, additional, Valero-Lopez, Gabriel, additional, Alarcon-Martinez, Helena, additional, Goodspeed, Kimberly, additional, van Slegtenhorst, Marjon, additional, Barakat, Tahsin Stefan, additional, Møller, Rikke S., additional, Johannesen, Katrine M., additional, and Rubboli, Guido, additional

Published
2023
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4. A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

Author

Parthasarathy, Shridhar, primary, Ruggiero, Sarah McKeown, additional, Gelot, Antoinette, additional, Soardi, Fernanda C, additional, Ribeiro, Bethânia F R, additional, Pires, Douglas E V, additional, Ascher, David B, additional, Schmitt, Alain, additional, Rambaud, Caroline, additional, Represa, Alfonso, additional, Xie, Hongbo M, additional, Lusk, Laina, additional, Wilmarth, Olivia, additional, McDonnell, Pamela Pojomovsky, additional, Juarez, Olivia A, additional, Grace, Alexandra N, additional, Buratti, Julien, additional, Mignot, Cyril, additional, Gras, Domitille, additional, Nava, Caroline, additional, Pierce, Samuel R, additional, Keren, Boris, additional, Kennedy, Benjamin C, additional, Pena, Sergio D J, additional, Helbig, Ingo, additional, and Cuddapah, Vishnu Anand, additional

Published
2022
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5. Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.

Author

Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Reuter MS, MacDonald JR, Ko SY, Frankland PW, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV, Douine ED, Russell BE, Nelson SF, Zara F, and Scherer SW

Abstract

Autism Spectrum Disorder (ASD) exhibits an ~4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males. This locus includes the three-exon PTCHD1 gene, an adjacent multi-isoform long noncoding RNA (lncRNA) named PTCHD1-AS (spanning ~1Mb), and a poorly characterized single-exon RNA helicase named DDX53 that is intronic to PTCHD1-AS . While the relationship between PTCHD1/PTCHD1-AS and ASD is being studied, the role of DDX53 has not been examined, in part because there is no apparent functional murine orthologue. Through clinical testing, here, we identified 6 males and 1 female with ASD from 6 unrelated families carrying rare, predicted-damaging or loss-of-function variants in DDX53 . Then, we examined databases, including the Autism Speaks MSSNG and Simons Foundation Autism Research Initiative, as well as population controls. We identified 24 additional individuals with ASD harboring rare, damaging DDX53 variations, including the same variants detected in two families from the original clinical analysis. In this extended cohort of 31 participants with ASD (28 male, 3 female), we identified 25 mostly maternally-inherited variations in DDX53 , including 18 missense changes, 2 truncating variants, 2 in-frame variants, 2 deletions in the 3' UTR and 1 copy number deletion. Our findings in humans support a direct link between DDX53 and ASD, which will be important in clinical genetic testing. These same autism-related findings, coupled with the observation that a functional orthologous gene is not found in mouse, may also influence the design and interpretation of murine-modelling of ASD., Competing Interests: Competing interests At the time of this study and its publication, S.W.S. served on the Scientific Advisory Committee of Population Bio. Intellectual property from aspects of his research held at The Hospital for Sick Children are licensed to Athena Diagnostics and Population Bio. These relationships did not influence data interpretation or presentation during this study but are disclosed for potential future considerations. SVM is an employee of GeneDx, LLC. HFP is on the research advisory boards and speaker bureau for Takeda Pharmaceutical, AvroBio, Amicus Therapeutics, Sanofi, Alexion Therapeutics, Denali Therapeutics and Acer Therapeutics. All other authors declare no conflict of interest.

Published
2023
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