TY - JOUR
T1 - New genes involved in Angelman syndrome-like
T2 - Expanding the genetic spectrum
AU - Aguilera, Cinthia
AU - Gabau, Elisabeth
AU - Ramirez-Mallafré, Ariadna
AU - Brun-Gasca, Carme
AU - Dominguez-Carral, Jana
AU - Delgadillo, Veronica
AU - Laurie, Steve
AU - Derdak, Sophia
AU - Padilla, Natàlia
AU - de la Cruz, Xavier
AU - Capdevila, Núria
AU - Spataro, Nino
AU - Baena, Neus
AU - Guitart, Miriam
AU - Ruiz, Anna
N1 - Publisher Copyright:
© 2021 Aguilera et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
PY - 2021/10
Y1 - 2021/10
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85117354780&partnerID=8YFLogxK
U2 - 10.1371/journal.pone.0258766
DO - 10.1371/journal.pone.0258766
M3 - Article
C2 - 34653234
AN - SCOPUS:85117354780
SN - 1932-6203
VL - 16
JO - PloS one
JF - PloS one
IS - 10 October
M1 - e0258766
ER -