A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay

ÖZKAN KART P., ÇİTLİ Ş., YILDIZ N., CANSU A.

Brain and Development, cilt.45, sa.5, ss.300-305, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 45 Sayı: 5
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1016/j.braindev.2023.01.006
  • Dergi Adı: Brain and Development
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE, Psycinfo
  • Sayfa Sayıları: ss.300-305
  • Anahtar Kelimeler: Novel INPP4A mutation, Pontocerebellar hypoplasia, Myoclonic seizures, WES, PHOSPHATASE INPP4A, INOSITOL
  • Karadeniz Teknik Üniversitesi Adresli: Evet

Özet

© 2023 The Japanese Society of Child NeurologyBackground: The inositol polyphosphate 4-phosphatase intracellular signaling pathway is susceptible to genetic or epigenetic alterations that may result in major neurological illnesses with clinically significant pons and cerebellum involvement. Case reports: A seven-year-old girl with pontocerebellar hypoplasia, resistant myoclonic epilepsy with axial hypotonia, microcephaly, atypical facial appearance, nystagmus, ophthalmoplegia, hyperactive tendon reflexes, spasticity, clonus, extensor plantar response, contractures in wrists and ankles and growth retardation, whole-exome sequencing was performed and a homozygous “NM_001134225.2:c.646C > T, p.(Arg216Ter)” variant was found in the INPP4A gene. Conclusion: INPP4A mutations should be kept in mind in cases with severely delayed psychomotor development, progressive microcephaly, resistant myoclonic epilepsy, isolated cerebellum, and pons involvement.