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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Evidence for a Pathogenic Variant in a Patient wit ...
Evidence for a Pathogenic Variant in a Patient with Generalized Arterial Calcification of Infancy
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Pdf Summary
Generalized Arterial Calcification of Infancy (GACI) is a rare disorder characterized by early-life calcification of blood vessels. Mutations in the ENPP1 and ABCC6 genes are associated with GACI. The case discussed involves a male patient of European and African American ancestry who showed aortic calcification and pericardial effusion at birth. These conditions resolved, and the patient remained asymptomatic during follow-up cardiology evaluations. Genetic analysis revealed compound heterozygosity in the ABCC6 gene, with a pathogenic variant of paternal origin (c.3940C>T) and a variant of uncertain clinical significance (VUS) of maternal origin (c.3787G>A). The VUS was predicted to damage protein function, but lacked sufficient supporting evidence for classification. Phenoype analysis suggests a classification of "pathogenic" or "likely pathogenic" for this patient. <br /><br />The ABCC6 gene codes for a membrane-bound protein primarily found in the liver and kidneys. Its specific transport substrate is unknown. This study provides evidence for a pathogenic ABCC6 variant in a patient with GACI, further contributing to our understanding of the genetic basis of this disorder. <br /><br />In summary, this case report describes a patient with GACI who underwent genetic analysis. A pathogenic variant in the ABCC6 gene and a variant of uncertain significance were identified. The patient showed resolution of initial symptoms and remained asymptomatic during follow-up evaluations. Further research is needed to determine the exact transport substrate of the ABCC6 gene and its role in GACI pathogenesis.
Asset Subtitle
Submitter Only - Rafael Schulman, BS; Co-Author - Jennifer Black, MS, CGC; Presenting Author - Robert Roger Lebel, MD, FACMG;
Meta Tag
Cardiac/circulatory disorders
Cardiovascular System
Fetal Pathology
Genetic Testing
Co-Author
Jennifer Black, MS, CGC
Presenting Author
Robert Roger Lebel, MD, FACMG
Submitter Only
Rafael Schulman, BS
Keywords
Generalized Arterial Calcification of Infancy
GACI
ENPP1 gene
ABCC6 gene
calcification of blood vessels
aortic calcification
pericardial effusion
compound heterozygosity
pathogenic variant
variant of uncertain clinical significance
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