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:10.1038/s41439-023-00256-7

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

Hum Genome Var. 2023 Nov 22;10(1):30. doi: 10.1038/s41439-023-00256-7.

Authors

Kazuki Watanabe¹, Kazuo Kubota^{2

3}, Mitsuko Nakashima⁴, Hirotomo Saitsu⁵

Affiliations

¹ Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
² Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
³ Division of Clinical Genetics, Gifu University Hospital, Gifu, Japan.
⁴ Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. mnakashi@hama-med.ac.jp.
⁵ Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan. hsaitsu@hama-med.ac.jp.

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.

Grants and funding

JP20K08236/Ministry of Health, Labour and Welfare (Ministry of Health, Labour and Welfare, Japan)