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Article

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19.

American journal of medical genetics. Part A - 1 Oct 2025

Carreño-Hidalgo Marta, Muñoz-Siles Raquel, López-González Vanesa, Carreño-Gago Lidia, Dulcet Lluís Armengol

Abstract excerpt

Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may arise. Here we report the case of a patient with prenatal...

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Identifiers

PMID: 40401402
DOI: 10.1002/ajmg.a.64125

Genes

PEPD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19.PMID 40401402Read ↗

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Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

Characterization of a new PEPD allele causing prolidase deficiency in two unrelated patients: natural-occurrent mutations as a tool to investigate structure-function relationship.Semantic proximity Read ↗

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