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    Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1

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    Author
    Ahmed, Mariya R.
    Sethna, Saumil
    Krueger, Laura A.
    Yang, Michael B.
    Hufnagel, Robert B.
    Date
    2022-03-01
    Journal
    Genes
    Publisher
    MDPI AG
    Type
    Article
    
    Metadata
    Show full item record
    See at
    https://doi.org/10.3390/genes13030411
    Abstract
    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 fivegeneration Caucasian family exhibiting atypical syndromic ASD segregating with a novel truncating variant of FOXC1. The family history is consistent with highly variable autosomal dominant symptoms including isolated glaucoma, iris hypoplasia, aniridia, cataract, hypothyroidism, and congenital heart anomalies. Whole-exome sequencing revealed a novel variant [c.313_314insA; p.(Tyr105*)] in FOXC1 that disrupts the α-helical region of the DNA-binding forkhead box domain. In vitro studies using a heterologous cell system revealed aberrant cytoplasmic localization of FOXC1 harboring the Tyr105* variant, likely precluding downstream transcription function. Meta-analysis of the literature highlighted the intrafamilial variability related to FOXC1 truncating alleles. This study highlights the clinical variability in ASD and signifies the importance of combining both clinical and molecular analysis approaches to establish a complete diagnosis. © 2022 by the authors.
    Sponsors
    National Eye Institute
    Keyword
    Anterior segment dysgenesis
    FOXC1
    In vitro studies
    Intrafamilial variability
    Novel variant
    Ophthalmic genetics
    Identifier to cite or link to this item
    http://hdl.handle.net/10713/18225
    ae974a485f413a2113503eed53cd6c53
    10.3390/genes13030411
    Scopus Count
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