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An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome
Alicia Coudert1, Julien Thevenon1,2, Quentin Testard1,3
1Genetic, Genomic and Procreation Department, CHU Grenoble Alpes, Grenoble, France.
American Journal of Medical Genetics. Part A
|November 23, 2024
Summary
This study identifies new genetic variants in PPP1R13L causing dilated cardiomyopathy (DCM) and related anomalies in children. The findings expand the known symptoms of this rare genetic disorder.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- Dilated cardiomyopathy (DCM) is a significant cause of heart failure in children, often with genetic underpinnings.
- PPP1R13L gene variants are known to cause a rare recessive syndrome with cardiac, skin, teeth, and hair abnormalities.
Observation:
- A patient presented with early-onset, progressive DCM, skin appendage issues, and an anorectal anomaly.
- The patient's affected brother exhibited a similar phenotype.
Findings:
- Exome sequencing revealed biallelic loss-of-function (LoF) variants in PPP1R13L in both affected siblings.
- Anorectal anomalies were observed, a feature not previously described in PPP1R13L-related disorders.
Implications:
- This expands the known clinical spectrum of PPP1R13L loss-of-function (LoF) disorder.
- Genetic testing for PPP1R13L variants should be considered in pediatric patients with DCM and syndromic features, including anorectal malformations.
