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Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients.

Molecular genetics & genomic medicine - 1 May 2026

Wang Qingming, Xiao Huimin, Zhang Fang, Li Hui, Zhao Juan, Yuan Haiming

Abstract excerpt

BACKGROUND: Ornithine transcarbamylase deficiency (OTCD, MIM#311250) is a rare X-linked urea cycle disorder causing hyperammonemia. While around 600 pathogenic OTC variants have been reported, cryptic changes like synonymous or in-frame variants remain poorly characterized and are easily overlooked in routine screening. METHODS: We analyzed the clinical and genetic profiles of two unrelated Chinese male patients...

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Identifiers

PMID: 42050797
DOI: 10.1002/mgg3.70223
PMCID: PMC13125405

Genes

OTC

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