NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas.
Hum Genome Var
; 11(1): 22, 2024 May 16.
Article
em En
| MEDLINE
| ID: mdl-38755192
ABSTRACT
Neurofibromatosis type 1 (NF1) is an autosomal dominant nevus disease characterized by multiple manifestations, primarily café-au-lait macules and neurofibromas. Here, we present the case of an NF1 patient with 47,XYY mosaicism whose diagnosis was prompted by café-au-lait macules on the skin and mandibular neurofibromas. Targeted next-generation sequencing of the patient's blood sample revealed a novel frameshift mutation in NF1 (NM_000267.3c.6832dupAp.Thr2278Asnfs*8) that is considered a pathogenic variant.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Hum Genome Var
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Japão
País de publicação:
Reino Unido