A recurrent de novo missense variant in the NTRK2 gene (;p.Tyr434Cys) was identified in four individuals presenting with epilepsy and developmental delay/intellectual disability; two of these individuals were also diagnosed with ASD (Hamdan et al., 2017). An fifth individual found to have a de novo NTRK2 missense variant (p.Thr720Ile) was also reported in Hamdan et al., 2017; this case was diagnosed with ASD and presented with epilepsy, global developmental delay, and intellectual disability.
Molecular Function
This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation. Mutations in this gene are associated with obesity, hyperphagia, and developmental delay (OBHD; OMIM 613886); affected individuals have been reported to display stereotyped behaviors and repetitive speech (Yeo et al., 2004) and ritualized behaviors (Miller et al., 2017).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
