LRRTM4 Terminal Exon Duplicated in Family with Tourette Syndrome, Autism and ADHD.
Genes (Basel)
; 13(1)2021 12 27.
Article
em En
| MEDLINE
| ID: mdl-35052406
ABSTRACT
Tourette syndrome (TS) is a neurodevelopmental disorder characterised by motor and vocal tics and strong association with autistic deficits, obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD). The genetic overlap between TS and autism spectrum disorder (ASD) includes those genes that encode the neurexin trans-synaptic connexus (NTSC) inclusive of the presynaptic neurexins (NRXNs) and postsynaptic neuroligins (NLGNs), cerebellin precursors (CBLNs in complex with the glutamate ionotropic receptor deltas (GRIDs)) and the leucine-rich repeat transmembrane proteins (LRRTMs). In this study, we report the first evidence of a TS and ASD association with yet another NTSC gene family member, namely LRRTM4. Duplication of the terminal exon of LRRTM4 was found in two females with TS from the same family (mother and daughter) in association with autistic traits and ASD.
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Base de dados:
MEDLINE
Assunto principal:
Transtorno do Deficit de Atenção com Hiperatividade
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Transtorno Autístico
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Família
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Síndrome de Tourette
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Éxons
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Duplicação Gênica
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Proteínas de Membrana
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Proteínas do Tecido Nervoso
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article