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NTRK2

Gene product: Neurotrophic Receptor Tyrosine Kinase 2.

Protein function: Receptor for brain-derived neurotrophic factor (BDNF), which regulates neuronal survival, proliferation, migration, differentiation, synapse formation, and plasticity, and is involved in the development and maturation of the central and peripheral nervous systems.

Phenotype: Developmental and epileptic encephalopathy 58 (AD) (some may present as Infantile Epileptic Spasms Syndrome, some may also have vision problems) [1, 3-4]; Obesity, hyperphagia, and developmental delay (AD) [2].

Mutation database: ClinVar.

Clinical research: PubMed (PMID: 34425480 (Seizure. 2021)；PMID: 39540377 (Genet Med. 2024))

Medication reminder: The choice of drug is mainly based on different epilepsy syndromes. More than half of the cases reported so far are resistant to anti-epileptic drugs. There is also individual case report that Infantile Epileptic Spasms Syndrome caused by this gene mutation is responsive to ACTH [3-4].

 

References:

  1. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. Am J Hum Genet. 2017 Nov 2;101(5):664-685.
  2. A de novo mutation affecting human TrkB associated with severe obesity and developmental delay. Nat Neurosci. 2004 Nov;7(11):1187-9.
  3. NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases. Seizure. 2021 Nov:92:52-55.
  4. Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India. Epilepsia Open. 2023 Dec;8(4):1383-1404.