A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1.
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
22 Nov 2023
22 Nov 2023
Historique:
received:
17
08
2023
accepted:
29
10
2023
revised:
25
10
2023
medline:
23
11
2023
pubmed:
23
11
2023
entrez:
22
11
2023
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 37993422
doi: 10.1038/s41439-023-00256-7
pii: 10.1038/s41439-023-00256-7
pmc: PMC10665374
doi:
Types de publication
Journal Article
Langues
eng
Pagination
30Subventions
Organisme : Ministry of Health, Labour and Welfare (Ministry of Health, Labour and Welfare, Japan)
ID : JP20K08236
Informations de copyright
© 2023. The Author(s).
Références
Childs Nerv Syst. 2020 Oct;36(10):2333-2350
pubmed: 32613422
Seizure. 2022 Oct;101:22-29
pubmed: 35850019
Clin Dysmorphol. 2012 Oct;21(4):212-214
pubmed: 22664660
Am J Hum Genet. 2022 Oct 6;109(10):1885-1893
pubmed: 36103875
Hum Mutat. 2022 Oct;43(10):1354-1360
pubmed: 35723633
Childs Nerv Syst. 2009 Feb;25(2):211-6
pubmed: 18802710
Orphanet J Rare Dis. 2018 Nov 29;13(1):216
pubmed: 30486850
Hum Mutat. 2009 Oct;30(10):1435-48
pubmed: 19685533
J Hum Genet. 2020 Jan;65(2):79-89
pubmed: 31776437
Genet Med. 2021 Aug;23(8):1506-1513
pubmed: 34012067
Genet Med. 2018 Sep;20(9):1082-1086
pubmed: 29215653
Clin Genet. 2013 May;83(5):462-6
pubmed: 22925204
Molecules. 2020 Jul 07;25(13):
pubmed: 32646032