Human Genome Variation (Nov 2023)

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1

  • Kazuki Watanabe,
  • Kazuo Kubota,
  • Mitsuko Nakashima,
  • Hirotomo Saitsu

DOI
https://doi.org/10.1038/s41439-023-00256-7
Journal volume & issue
Vol. 10, no. 1
pp. 1 – 4

Abstract

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Abstract Neurofibromatosis type 1 (NF1) is one of the most common hereditary neurocutaneous disorders. Here, we report a unique case of a patient with typical NF1 findings and infantile spasms who had three possibly pathogenic de novo variants, c.3586C>T, p.(Leu1196Phe) and c.3590C>T, p.(Ala1197Val) in NF1 located in cis and c.1042G>C, p.(Ala348Pro) in GABBR1. This study contributes to our understanding of the effect of two cis variants on NF1 phenotypes and GABBR1-related neuropsychiatric disorders.