Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

doi:10.1016/j.ajhg.2016.06.021

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Article

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.

American journal of human genetics - 1 Sept 2016

Guimier Anne, Gordon Christopher T, Godard François, Ravenscroft Gianina, Oufadem Myriam, Vasnier Christelle, Rambaud Caroline, Nitschke Patrick, Bole-Feysot Christine, Masson Cécile, Dauger Stéphane, Longman Cheryl, Laing Nigel G, Kugener Béatrice, Bonnet Damien, Bouvagnet Patrice, Di Filippo Sylvie, Probst Vincent, Redon Richard, Charron Philippe, Rötig Agnès, Lyonnet Stanislas, Dautant Alain, de Pontual Loïc, di Rago Jean-Paul, Delahodde Agnès, Amiel Jeanne

Abstract excerpt

Sudden unexpected death in infancy occurs in apparently healthy infants and remains largely unexplained despite thorough investigation. The vast majority of cases are sporadic. Here we report seven individuals from three families affected by sudden and unexpected cardiac arrest between 4 and 20 months of age. Whole-exome sequencing revealed compound heterozygous missense mutations in PPA2 in affected infants of...

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Identifiers

PMID: 27523598
DOI: 10.1016/j.ajhg.2016.06.021
PMCID: PMC5010643

Genes

PPA2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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