Prevalence, Type, and Molecular Spectrum of
Noonan syndrome
congenital heart disease
neurofibromatosis type 1
non-truncating mutation
pulmonary valve stenosis
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
04 09 2019
04 09 2019
Historique:
received:
27
07
2019
revised:
30
08
2019
accepted:
01
09
2019
entrez:
7
9
2019
pubmed:
7
9
2019
medline:
17
1
2020
Statut:
epublish
Résumé
The aim of this study was to assess the prevalence and type of congenital heart disease (CHD) and the associated mutation spectrum in a large series of patients with neurofibromatosis type 1 (NF1), and correlate the mutation type with the presence and subgroups of cardiac defects. The study cohort included 493 individuals with molecularly confirmed diagnosis of NF1 for whom cardiac evaluation data were available. CHD was reported in 62/493 (12.6%) patients. Among these patients, 23/62 (37.1%) had pulmonary valve stenosis/dysplasia, 20/62 (32.3%) had mitral valve anomalies, and 10/62 (16.1%) had septal defects. Other defects occurred as rare events. In this NF1 subcohort, three subjects carried a whole-gene deletion, while 59 were heterozygous for an intragenic mutation. A significantly increased prevalence of non-truncating intragenic mutations was either observed in individuals with CHD (22/59, 37.3%) or with pulmonary valve stenosis (13/20, 65.0%), when compared to individuals without CHD (89/420, 21.2%) (
Identifiants
pubmed: 31487937
pii: genes10090675
doi: 10.3390/genes10090675
pmc: PMC6770533
pii:
doi:
Substances chimiques
NF1 protein, human
0
Neurofibromin 1
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
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