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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Compound Heterozygosity for loss-of-function varia ...
Compound Heterozygosity for loss-of-function variants in
GDF1
provides a molecular diagnosis in a patient with Heterotaxy Syndrome
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Pdf Summary
This document presents a case study of a patient with heterotaxy syndrome, a condition caused by a failure to establish correct left-right symmetry during embryonic development. The patient's mother sought prenatal genetic testing due to abnormal findings on a fetal echocardiogram. Postnatal testing confirmed the diagnosis of heterotaxy syndrome and provided a molecular diagnosis by identifying compound heterozygosity for loss-of-function variants in GDF1, a gene associated with the condition.<br /><br />The case highlights the diagnostic utility of Trio Whole Exome Sequencing (WES) in laterality disorders like heterotaxy syndrome. The study also expands our understanding of the phenotypic spectrum and mutational profile of GDF1-associated heterotaxy.<br /><br />The document includes several figures illustrating the clinical characteristics of heterotaxy syndrome, the molecular mechanisms involved in establishing left-right symmetry during embryogenesis, and the results of genetic testing. These figures demonstrate the presence of a copy number loss within chromosome band 2q13 in the patient's genome, as well as the presence of two pathogenic variants in the GDF1 gene.<br /><br />Overall, this case study highlights the importance of genetic testing in providing a molecular diagnosis for patients with heterotaxy syndrome and expanding our understanding of the condition. It also emphasizes the value of Trio WES in diagnosing laterality disorders.
Asset Subtitle
Presenting Author - Vittoria Rossi, MD; Co-Author - Xi Luo, PhD; Co-Author - Kristin Cardiel Nunez, BS; Co-Author - Ruiyang Yi, MD; Co-Author - Elizabeth A. Mizerik, MS, CGC; Co-Author - Lauren E. Westerfield, MS, CGC; Co-Author - Seema Lalani, MD; Co-Author - Mir Reza Bekheirnia, MD, FACMG;
Meta Tag
Cardiac/circulatory disorders
Cardiovascular System
Clinical Cytogenetics
Congenital Anomaly
Exome sequencing
Genetic Testing
Genome sequencing
Genotype-Phenotype Correlations
Identification of Disease Genes
Prenatal Diagnosis
Co-Author
Xi Luo, PhD
Co-Author
Kristin Cardiel Nunez, BS
Co-Author
Ruiyang Yi, MD
Co-Author
Elizabeth A. Mizerik, MS, CGC
Co-Author
Lauren E. Westerfield, MS, CGC
Co-Author
Seema Lalani, MD
Co-Author
Mir Reza Bekheirnia, MD, FACMG
Presenting Author
Vittoria Rossi, MD
Keywords
heterotaxy syndrome
embryonic development
prenatal genetic testing
fetal echocardiogram
molecular diagnosis
GDF1 gene
Trio Whole Exome Sequencing
phenotypic spectrum
mutational profile
genetic testing
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