A novel de novo missense OTC mutation in an Iranian girl: a case report
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Ensiyeh Bahadoran
Abstract
Objectives
Ornithine transcarbamylase deficiency (OTCD) is the most common inborn error of the urea cycle, caused by mutations in the OTC gene located on the X chromosome. OTCD presents in early and late-onset forms, with variable severity. Despite the high genetic heterogeneity, genotype-phenotype correlations help in prognosis and treatment planning. This study presents a novel missense mutation in an Iranian girl with OTCD, occurring de novo, contributing to the understanding of the disease’s genetic landscape.
Case presentation
A 2-year-old girl from a consanguineous marriage presented with nausea, recurrent vomiting, and seizure. Elevated plasma ammonia, liver enzyme tests, and hepatomegaly suggested metabolic disorders. Following whole exome test, a novel heterozygous missense mutation in exon 7 of the OTC gene (c.674C>T) was identified in the patient. Despite maternal and paternal testing, no mutation was detected.
Conclusions
Identifying new mutations in populations helps mitigate the high mortality rates associated with OTCD hyperammonemic episodes and provides the best course of treatment, especially considering the diverse phenotypic variations.
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Research ethics: Not applicable.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interests: The authors state no conflict of interest.
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Research funding: None declared.
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Data availability: Not applicable.
References
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Articles in the same Issue
- Frontmatter
- Review
- Osteogenesis imperfecta: shifting paradigms in pathophysiology and care in children
- Opinion Paper
- CRH receptor antagonist crinecerfont – a promising new treatment option for patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
- Original Articles
- Age and sex mark clinical differences in the presentation of pediatric type 1 diabetes mellitus
- Geographic information system mapping and predictors of glycemic control in children and youth with type 1 diabetes: a study from Western India
- Body composition assessment measured via bioelectrical impedance analysis in euthyroid children with newly diagnosed Hashimoto’s thyroiditis
- Outcomes of newborns screened for congenital hypothyroidism in Turkey – a single center experience
- High yield of congenital hypothyroidism among infants attending Children Hospital, Nairobi, Kenya. Facility based study in the absence of newborn screening
- Immune checkpoint inhibitors and endocrinopathies in pediatric brain tumor patients
- Assessment of quality of life in families affected by maple syrup urine disease: a cross sectional study
- Case Reports
- Reninoma: an unusual cause of growth failure
- Persistent hypoglycemia in congenital syphilis: hyperinsulinemic hypoglycemia with a focal pancreatic lesion
- Diagnostic challenges in pediatric Cushing’s disease associated with chronic renal failure: a report of three patients
- A novel de novo missense OTC mutation in an Iranian girl: a case report
