Type I hyperprolinemia: genotype/phenotype correlations.

doi:10.1002/humu.21296

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Article

Type I hyperprolinemia: genotype/phenotype correlations.

Human mutation - 1 Aug 2010

Guilmatre Audrey, Legallic Solenn, Steel Gary, Willis Alecia, Di Rosa Gabriella, Goldenberg Alice, Drouin-Garraud Valérie, Guet Agnès, Mignot Cyril, Des Portes Vincent, Valayannopoulos Vassili, Van Maldergem Lionel, Hoffman Jodi D, Izzi Claudia, Espil-Taris Caroline, Orcesi Simona, Bonafé Luisa, Le Galloudec Eric, Maurey Hélène, Ioos Christine, Afenjar Alexandra, Blanchet Patricia, Echenne Bernard, Roubertie Agathe, Frebourg Thierry, Valle David, Campion Dominique

Abstract excerpt

Type I hyperprolinemia (HPI) is an autosomal recessive disorder associated with cognitive and psychiatric troubles, caused by alterations of the Proline Dehydrogenase gene (PRODH) at 22q11. HPI results from PRODH deletion and/or missense mutations reducing proline oxidase (POX) activity. The goals of this study were first to measure in controls the frequency of PRODH variations described in HPI patients, second...

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Identifiers

PMID: 20524212
DOI: 10.1002/humu.21296

Genes

PRODH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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