2026-04-29T12:23:02Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/172682025-05-07T09:13:51Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616

00925njm 22002777a 4500 dc Martinez-Delgado, Beatriz author Lopez-Martin, Estrella author Lara-Herguedas, Julián author Monzon, Sara author Cuesta, Isabel author Juliá, Miguel author Aquino, Virginia author Rodriguez-Martin, Carlos author Damian, Alejandra author Gonzalo, Irene author Gomez-Mariano, Gema Maria author Baladron-Jimenez, Beatriz Isabel author Cazorla, Rosario author Iglesias, Gema author Roman, Enriqueta author Ros, Purificación author Tutor, Pablo author Mellor, Susana author Jimenez, Carlos author Cabrejas, Maria Jose author Gonzalez-Vioque, Emiliano author Alonso, Javier author Bermejo-Sanchez, Eva author Posada De la Paz, Manuel author 2021-03 Disruption of the autism susceptibility candidate 2 (AUTS2) gene through genomic rearrangements, copy number variations (CNVs), and intragenic deletions and mutations, has been recurrently involved in syndromic forms of developmental delay and intellectual disability, known as AUTS2 syndrome. The AUTS2 gene plays an important role in regulation of neuronal migration, and when altered, associates with a variable phenotype from severely to mildly affected patients. The more severe phenotypes significantly correlate with the presence of defects affecting the C-terminus part of the gene. This article reports a new patient with a syndromic neurodevelopmental disorder, who presents a deletion of 30 nucleotides in the exon 9 of the AUTS2 gene. Importantly, this deletion includes the transcription start site for the AUTS2 short transcript isoform, which has an important role in brain development. Gene expression analysis of AUTS2 full-length and short isoforms revealed that the deletion found in this patient causes a remarkable reduction in the expression level, not only of the short isoform, but also of the full AUTS2 transcripts. This report adds more evidence for the role of mutated AUTS2 short transcripts in the development of a severe phenotype in the AUTS2 syndrome. Am J Med Genet A. 2021 Mar;185(3):877-883. 10.1002/ajmg.a.62017 1552-4833 American journal of medical genetics. Part A 33346930 http://hdl.handle.net/20.500.12105/17268 AUTS2 gene AUTS2 syndrome Expression Short isoform De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects