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Article

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

PloS one - 1 Jan 2015

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

Abstract excerpt

A 3-year-old female patient presenting with an unknown syndrome of a neonatal progeroid appearance, lipodystrophy, pulmonary hypertension, cutis marmorata, feeding disorder and failure to thrive was investigated by whole-genome sequencing. This revealed a de novo, heterozygous, frame-shift mutation in the Caveolin1 gene (CAV1) (p.Phe160X). Mutations in CAV1, encoding the main component of the caveolae in plasma...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26176221
DOI: 10.1371/journal.pone.0131797
PMCID: PMC4503302

Genes

CAV1
AGPAT2
LPIN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.PMID 26176221Read ↗

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