A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

Isabelle Schrauwen; Szabolcs Szelinger; Ashley L. Siniard; Ahmet Kurdoglu; Jason J. Corneveaux; Ivana Malenica; Ryan Richholt; Guy Van Camp; Matt De Both; Shanker Swaminathan; Mari Turk; Keri Ramsey; David W. Craig; Vinodh Narayanan; Matthew J. Huentelman

doi:10.1371/journal.pone.0131797

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Peer-reviewed

Research Article

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

Isabelle Schrauwen,

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
⨯
Szabolcs Szelinger,

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯
Ashley L. Siniard,

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯
Ahmet Kurdoglu,

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯
Jason J. Corneveaux †,

† Deceased.

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯
Ivana Malenica,

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯
Ryan Richholt,

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯
Guy Van Camp,

Affiliation Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
⨯
Matt De Both,

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯
Shanker Swaminathan,

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯
Mari Turk,

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯
Keri Ramsey,

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯
David W. Craig,

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯
Vinodh Narayanan,

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯
Matthew J. Huentelman

* E-mail: mhuentelman@tgen.org

Affiliations Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States of America, Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States of America
⨯

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

Isabelle Schrauwen,
Szabolcs Szelinger,
Ashley L. Siniard,
Ahmet Kurdoglu,
Jason J. Corneveaux,
Ivana Malenica,
Ryan Richholt,
Guy Van Camp,
Matt De Both,
Shanker Swaminathan

Published: July 15, 2015
https://doi.org/10.1371/journal.pone.0131797

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