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Article

OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.

Journal of inherited metabolic disease - 1 Sept 2021

Gobin-Limballe Stephanie, Ottolenghi Chris, Reyal Fabien, Arnoux Jean-Baptiste, Magen Maryse, Simon Marie, Brassier Anaïs, Jabot-Hanin Fabienne, Lonlay Pascale De, Pontoizeau Clement, Guirat Manel, Rio Marlene, Gesny Roselyne, Gigarel Nadine, Royer Ghislaine, Steffann Julie, Munnich Arnold, Bonnefont Jean-Paul

Abstract excerpt

OTC deficiency, an inherited urea cycle disorder, is caused by mutations in the X-linked OTC gene. Phenotype-genotype correlations are well understood in males but still poorly known in females. Taking advantage of a cohort of 130 families (289 females), we assessed the relative contribution of OTC enzyme activity, X chromosome inactivation, and OTC gene sequencing to genetic counseling in heterozygous females....

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Identifiers

PMID: 34014569
DOI: 10.1002/jimd.12404

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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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