Bilateral Sensorineural Hearing Loss in AKT3 Mutation: A Case Report and Brief Review of the Literature.

Günay Ç., Kurul S. H., Yiş U.

Annals of Indian Academy of Neurology, cilt.26, sa.3, ss.293-296, 2023 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 3
  • Basım Tarihi: 2023
  • Doi Numarası: 10.4103/aian.aian_92_23
  • Dergi Adı: Annals of Indian Academy of Neurology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, CINAHL, EMBASE, Veterinary Science Database, Directory of Open Access Journals
  • Sayfa Sayıları: ss.293-296
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Strengthening knowledge in neurogenetic field has led to increased use of high-throughput sequencing methods allowing scientists to identify the molecular etiologies of many megalencephaly syndromes, of which the phosphatidylinositol-3-kinase (PI3K)-protein kinase B (AKT)-mammalian target of rapamycin (mTOR) signaling pathway has been a topic of serious interest.[1] The genes PIK3R2, AKT3, and PIK3CA are main regulators of this pathway. To date, megalencephaly associated with AKT3 gene mutation has been described in 21 cases; five of whom were reported to have ‘non-syndromic’ megalencephaly, a condition without the distinctive hallmarks of defined megalencephaly syndromes but only non-specific neurodevelopmental features including autism and intellectual disability.[1,2] We report a case of non-syndromic megalencephaly due to the AKT3 mutation with sensorineural hearing loss (SNHL), a feature which was never reported before, with a brief review of the literature.