17q23.3 de novo microdeletion involving only TANC2 gene: A new case.

Autor: Tassano E; Laboratory of Human Genetics, IRCCS Giannina Gaslini, Genoa, Italy. Electronic address: elisatassano@gaslini.org., Accogli A; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) - University of Genoa, Genoa, Italy., Ronchetto P; Laboratory of Human Genetics, IRCCS Giannina Gaslini, Genoa, Italy., Tortora D; Neuroradiology Unit, IRCCS Giannina Gaslini, Genova, Italy., Tavella E; Laboratory of Human Genetics, IRCCS Giannina Gaslini, Genoa, Italy., Gimelli G; Formerly, Laboratory of Cytogenetics, IRCCS Giannina Gaslini, Genoa, Italy., Mancardi M; Child Neuropsychiatry Unit, IRCCS Giannina Gaslini, Genoa, Italy., Malacarne M; Laboratory of Human Genetics, IRCCS Giannina Gaslini, Genoa, Italy., Coviello DA; Laboratory of Human Genetics, IRCCS Giannina Gaslini, Genoa, Italy.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2020 Dec; Vol. 63 (12), pp. 104094. Date of Electronic Publication: 2020 Nov 04.
DOI: 10.1016/j.ejmg.2020.104094
Abstrakt: Neurodevelopmental disorders (NDDs) show a wide range of overlapping clinical features. Intellectual disability (ID), developmental delay (DD), autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), language and communication disorders with or without motor abnormalities and/or epilepsy have been reported associated to single or multiple genes but in many cases the genetic basis remains unknown. The increasingly use of array-CGH has significantly improved the yield of diagnosing genomic disorders and led to the identification of several novel microdeletion and microduplication syndromes. TANC2 encodes a synaptic scaffold protein interacting with multiple neuropsychiatric disorder-related postsynaptic density (PSD) proteins in dendrites. Here, we describe a new case of TANC2 gene disruption in a 17q23.3 de novo microdeletion identified by array-CGH. The patient presented craniofacial dysmorphic features, hypotonia, and severe cognitive and motor impairment. In conclusion, our data add a further line of evidence supporting the role of TANC2 in NDDs and will help further researches to elucidate the regulatory mechanism of synaptic function and plasticity related to TANC2 haploinsufficiency.
(Copyright © 2020 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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