Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.
Published
March 26, 2022
Journal
Genes
PICOID
e56e37fe
DOI
Citations
3
Keywords
FOXC1, anterior segment dysgenesis, in vitro studies, intrafamilial variability, novel variant, ophthalmic genetics
Copyright
Patients/Population/Participants
Caucasian family
Intervention
novel truncating variant
Comparison
-
Outcome
atypical syndromic ASD
Abstract
P
I
C
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Anterior segment dysgenesis (ASD) encompasses a wide spectrum of developmental abnormalities of the anterior ocular segment, including congenital cataract, iris hypoplasia, aniridia, iridocorneal synechiae, as well as Peters, Axenfeld, and Rieger anomalies. Here, we report a large five-generation Caucasian family exhibiting atypical syndromic ASD segregating with a novel truncating variant of