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

E Tassano, A Accogli, P Ronchetto, D Tortora, E Tavella, G Gimelli, M Mancardi, M Malacarne, D A Coviello

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)104094
JournalEur. J. Med. Genet.
Volume63
Issue number12
DOIs
Publication statusPublished - Dec 2020

Fingerprint

Dive into the research topics of '17q23.3 de novo microdeletion involving only TANC2 gene: A new case'. Together they form a unique fingerprint.

Cite this