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

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.

SUBMITTER: Watanabe K 

PROVIDER: S-EPMC10665374 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature