New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10-15% of patients with an AS phenotype whose genet...
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oai:doaj.org-article:c8b99d9ba519460485d60cbe70c718d72021-12-02T20:16:50ZNew genes involved in Angelman syndrome-like: Expanding the genetic spectrum.1932-620310.1371/journal.pone.0258766https://doaj.org/article/c8b99d9ba519460485d60cbe70c718d72021-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0258766https://doaj.org/toc/1932-6203Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10-15% of patients with an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on a cohort of 14 patients with clinical features of AS and no molecular diagnosis. As a result, we identified 10 de novo and 1 X-linked pathogenic/likely pathogenic variants in 10 neurodevelopmental genes (SYNGAP1, VAMP2, TBL1XR1, ASXL3, SATB2, SMARCE1, SPTAN1, KCNQ3, SLC6A1 and LAS1L) and one deleterious de novo variant in a candidate gene (HSF2). Our results highlight the wide genetic heterogeneity in AS-like patients and expands the differential diagnosis.Cinthia AguileraElisabeth GabauAriadna Ramirez-MallafréCarme Brun-GascaJana Dominguez-CarralVeronica DelgadilloSteve LaurieSophia DerdakNatàlia PadillaXavier de la CruzNúria CapdevilaNino SpataroNeus BaenaMiriam GuitartAnna RuizPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 16, Iss 10, p e0258766 (2021) |
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Medicine R Science Q Cinthia Aguilera Elisabeth Gabau Ariadna Ramirez-Mallafré Carme Brun-Gasca Jana Dominguez-Carral Veronica Delgadillo Steve Laurie Sophia Derdak Natàlia Padilla Xavier de la Cruz Núria Capdevila Nino Spataro Neus Baena Miriam Guitart Anna Ruiz New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. |
| description |
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10-15% of patients with an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on a cohort of 14 patients with clinical features of AS and no molecular diagnosis. As a result, we identified 10 de novo and 1 X-linked pathogenic/likely pathogenic variants in 10 neurodevelopmental genes (SYNGAP1, VAMP2, TBL1XR1, ASXL3, SATB2, SMARCE1, SPTAN1, KCNQ3, SLC6A1 and LAS1L) and one deleterious de novo variant in a candidate gene (HSF2). Our results highlight the wide genetic heterogeneity in AS-like patients and expands the differential diagnosis. |
| format |
article |
| author |
Cinthia Aguilera Elisabeth Gabau Ariadna Ramirez-Mallafré Carme Brun-Gasca Jana Dominguez-Carral Veronica Delgadillo Steve Laurie Sophia Derdak Natàlia Padilla Xavier de la Cruz Núria Capdevila Nino Spataro Neus Baena Miriam Guitart Anna Ruiz |
| author_facet |
Cinthia Aguilera Elisabeth Gabau Ariadna Ramirez-Mallafré Carme Brun-Gasca Jana Dominguez-Carral Veronica Delgadillo Steve Laurie Sophia Derdak Natàlia Padilla Xavier de la Cruz Núria Capdevila Nino Spataro Neus Baena Miriam Guitart Anna Ruiz |
| author_sort |
Cinthia Aguilera |
| title |
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. |
| title_short |
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. |
| title_full |
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. |
| title_fullStr |
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. |
| title_full_unstemmed |
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. |
| title_sort |
new genes involved in angelman syndrome-like: expanding the genetic spectrum. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2021 |
| url |
https://doaj.org/article/c8b99d9ba519460485d60cbe70c718d7 |
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