false
zh-CN,zh-TW,en,fr,de,ja,ko,pt,es,th,vi
Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Expanding the Phenotypic Spectrum of Currarino Syn ...
Expanding the Phenotypic Spectrum of Currarino Syndrome with Cardiac Anomalies
Back to course
Pdf Summary
Currarino Syndrome (CS) is a rare genetic disorder caused by mutations in the MNX1 gene. The traditional triad of CS includes anterior sacral bone defects, anorectal malformations, and a presacral mass. This case study describes a 3-day-old female with CS who also had cardiac anomalies, which is a previously unreported finding. The patient had hypoplastic left heart with non-restrictive ASD, mitral atresia, aortic stenosis, and large PDA. The presence of heart anomalies expands the phenotypic spectrum of CS.<br /><br />The patient underwent various imaging tests to investigate her condition. An abnormally truncated sacrum was observed on pelvic X-ray, and ultrasound of the spine revealed findings consistent with tethered cord. However, no anomalies were found on abdominal ultrasound, and head ultrasound was normal. Whole genome sequencing identified a de novo deletion in the MNX1 gene.<br /><br />The study discusses evidence supporting an association between CS and cardiac anomalies. In a mouse model, mutations affecting the expression of Mnx1 resulted in a phenotype suggestive of both CS and cardiac malformations. Additionally, a previous case report described a patient with CS and congenital heart defects who had a duplication involving MNX1.<br /><br />This case highlights the importance of genetic testing in patients with CS to identify potential associations with other anomalies, such as cardiac malformations. It expands the understanding of the phenotypic spectrum of CS and emphasizes the need for comprehensive evaluation and management of individuals with this rare genetic disorder. Further research is warranted to elucidate the underlying mechanisms linking CS and cardiac anomalies.
Asset Subtitle
Presenting Author - Vanina Taliercio, MD; Co-Author - Gulsen Akay, MD; Co-Author - Pavalan Panneer Selvam, MBBS; Co-Author - Lorenzo D. Botto, MD; Co-Author - Hunter Underhill, MD/PhD;
Meta Tag
Cardiovascular System
Congenital Anomaly
Cytogenetics
Fetal Pathology
Genome sequencing
Malformation
Co-Author
Gulsen Akay, MD
Co-Author
Pavalan Panneer Selvam, MBBS
Co-Author
Lorenzo D. Botto, MD
Co-Author
Hunter Underhill, MD/PhD
Presenting Author
Vanina Taliercio, MD
Keywords
Currarino Syndrome
genetic disorder
MNX1 gene
anterior sacral bone defects
anorectal malformations
presacral mass
cardiac anomalies
hypoplastic left heart
tethered cord
whole genome sequencing
© 2024 American College of Medical Genetics and Genomics. All rights reserved.
×