Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder.
Front Genet
; 14: 1308116, 2023.
Article
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| MEDLINE
| ID: mdl-38283150
ABSTRACT
Background:
Neurodevelopmental disorders are characterized by different combinations of intellectual disability (ID), communication and social skills deficits, and delays in achieving motor or language milestones. SLITRK2 is a postsynaptic cell-adhesion molecule that promotes neurite outgrowth and excitatory synapse development. Methods andResults:
In the present study, we investigated a single patient segregating Neurodevelopmental disorder. SLITRK2 associated significant neuropsychological issues inherited in a rare X-linked fashion have recently been reported. Whole-exome sequencing and data analysis revealed a novel nonsense variant [c.789T>A; p.(Cys263*); NM_032539.5; NP_115928.1] in exon 5 of the SLITRK2 gene (MIM# 300561). Three-dimensional protein modeling revealed substantial changes in the mutated SLITRK2 protein, which might lead to nonsense-medicated decay.Conclusion:
This study confirms the role of SLITRK2 in neuronal development and highlights the importance of including the SLITRK2 gene in the screening of individuals presenting neurodevelopmental disorders.
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Bases de datos:
MEDLINE
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En
Revista:
Front Genet
Año:
2023
Tipo del documento:
Article
País de afiliación:
Arabia Saudita