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NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas.
- Source :
- Human Genome Variation; 5/16/2024, Vol. 11 Issue 1, p1-3, 3p
- Publication Year :
- 2024
-
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_000267.3:c.6832dupA:p.Thr2278Asnfs*8) that is considered a pathogenic variant. [ABSTRACT FROM AUTHOR]
- Subjects :
- MOSAICISM
FRAMESHIFT mutation
NEUROFIBROMATOSIS 1
NUCLEOTIDE sequencing
MACULES
NEVUS
Subjects
Details
- Language :
- English
- ISSN :
- 2054345X
- Volume :
- 11
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Human Genome Variation
- Publication Type :
- Academic Journal
- Accession number :
- 177310597
- Full Text :
- https://doi.org/10.1038/s41439-024-00279-8