A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods-Reference-Cited by-同舟云学术

A homozygous CAP2 pathogenic variant in a neonate presenting with rapidly progressive cardiomyopathy and nemaline rods

Published:2021-12-04 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Gurunathan Sharavana¹^ORCID,Sebastian Jessica²,Baker Jennifer²,Abdel‐Hamid Hoda Z.³,West Shawn C.⁴,Feingold Brian⁵,Peche Vivek⁶,Reyes‐Múgica Miguel⁷,Madan‐Khetarpal Suneeta²,Field Jeffrey¹^ORCID

Affiliation:

1. Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

2. Department of Pediatrics, Division of Medical Genetics and Genomic Medicine UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania USA

3. Department of Pediatrics, Division of Child Neurology UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania USA

4. Department of Pediatrics University of Pittsburgh School of Medicine Pittsburgh Pennsylvania USA

5. Department of Pediatrics and Clinical and Translational Science University of Pittsburgh School of Medicine Pittsburgh Pennsylvania USA

6. Department of Medicine Washington University School of Medicine St. Louis Missouri USA

7. Department of Pathology UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania USA

Funder

National Heart, Lung, and Blood Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62590

Reference40 articles.

1. Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance

2. CAP2 mutation leads to impaired actin dynamics and associates with supraventricular tachycardia and dilated cardiomyopathy

3. Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

4. Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

5. CAP2 is a regulator of actin pointed end dynamics and myofibrillogenesis in cardiac muscle

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