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

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

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...

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Veröffentlicht in:Human genome variation 2023-11, Vol.10 (1), p.30-30, Article 30
Hauptverfasser: Watanabe, Kazuki, Kubota, Kazuo, Nakashima, Mitsuko, Saitsu, Hirotomo
Format: Artikel
Sprache:eng
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Biomedical and Life Sciences
Biomedicine
Convulsions & seizures
Data Report
Epilepsy
Gene Expression
Gene Function
Gene Therapy
Genomes
Genomics
Human Genetics
Infants
Magnetic resonance imaging
Mental disorders
Molecular Medicine
Mutation
Neurofibromatosis
Patients
Phenotypes
Proteins
Recklinghausen's disease
Seizures
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Zusammenfassung: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.
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-023-00256-7