Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.
Am J Med Genet A
; 176(6): 1423-1426, 2018 06.
Article
in En
| MEDLINE
| ID: mdl-29663647
ABSTRACT
The NR2F2 gene plays an important role in angiogenesis and heart development. Moreover, this gene is involved in organogenesis in many other organs in mouse models. Variants in this gene have been reported in a number of patients with nonsyndromic atrioventricular septal defect, and in one patient with congenital heart defect and dysmorphic features. Here we report an 11-month-old Caucasian male with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect. He was later found to have a pathogenic mutation in the NR2F2 gene by whole exome sequencing. This is the second instance in which an NR2F2 mutation has been identified in a child with a congenital heart defect and other anomalies. This case suggests that some variants in NR2F2 may cause syndromic forms of congenital heart defect.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
COUP Transcription Factor II
/
Face
/
Heart Defects, Congenital
/
Mutation
Type of study:
Prognostic_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2018
Document type:
Article