ArticleMolecular genetics and metabolism2008
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Article in Molecular genetics and metabolism, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 28 citations in OpenAlex.
- Implications of Genetic Factors Underlying Mouse Hydronephrosis: Cautionary Considerations on Phenotypic Interpretation in Genetically Engineered Mice.International journal of molecular sciences · 2024Article
- Functional neutrophil disorders: Chronic granulomatous disease and beyond.Immunological reviews · 2024Review
- Lipid nanoparticle-targeted mRNA formulation as a treatment for ornithine-transcarbamylase deficiency model mice.Molecular therapy. Nucleic acids · 2023Article
- Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia.JIMD reports · 2019Article
- Survival of a Male Infant with a Familial Xp11.4 Deletion Causing Ornithine Transcarbamylase Deficiency.JIMD reports · 2019Article
- NADPH Oxidase Deficiency: A Multisystem Approach.Oxidative medicine and cellular longevity · 2017Review
- Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.Journal of genetics and genomics = Yi chuan xue bao · 2015Review
- Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review.Clinical and molecular allergy : CMA · 2011Article
- Hematologically important mutations: X-linked chronic granulomatous disease (third update).Blood cells, molecules & diseases · 2010Review
- Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.American journal of medical genetics. Part A · 2010Article
- Contiguous Xp11.4 Gene Deletion Leading to Ornithine Transcarbamylase Deficiency Detected by High-density Single-nucleotide Array.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2010Article
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Authors and funding
14 authors at 2 institutions in 1 country.
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Abstract
A male infant was diagnosed prenatally with a partial ornithine transcarbamylase (OTC) gene deletion and managed from birth. However, he displayed neurological abnormalities and developed pleural effusions, ascites and anasarca not solely explained by OTC deficiency (OTCD). Further evaluation of the gene locus using exon-specific PCR and high-density SNP array copy number analysis revealed a 3.9-Mb deletion from Xp11.4 to Xp21.1 including five additional gene deletions, three causing the known genetic diseases: Retinitis pigmentosa (RP3), X-linked chronic granulomatous disease (CGD) and McLeod syndrome. The case illustrates (1) the complexities of managing a patient with neonatal onset OTCD, CGD, RP3 and McLeod syndrome, (2) the need for detailed evaluation in seemingly "isolated" gene deletions and (3) the clinical utility of high-density copy number analysis for rapidly characterizing chromosomal lesions.
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