Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency
| Autor: | Bruce Bennetts, Carolyn Ellaway, Bridget Wilcken, Shanti Balasubramaniam, C. Rudduck, Gregory Peters |
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| Rok vydání: | 2009 |
| Předmět: |
Proband
congenital hereditary and neonatal diseases and abnormalities Endocrinology Diabetes and Metabolism Genetic counseling Biology medicine.disease_cause Biochemistry Endocrinology Genes X-Linked Genetics medicine Humans Multiplex ligation-dependent probe amplification CYBB Molecular Biology Skewed X-inactivation Ornithine transcarbamylase deficiency Ornithine Carbamoyltransferase Family Health Mutation Chromosomes Human X Comparative Genomic Hybridization Chromosome Mapping Infant Nucleic acid amplification technique Syndrome medicine.disease Molecular biology Ornithine Carbamoyltransferase Deficiency Disease Female Chromosome Deletion Nucleic Acid Amplification Techniques Gene Deletion |
| Zdroj: | Molecular genetics and metabolism. 99(1) |
| ISSN: | 1096-7206 |
| Popis: | OTC deficiency, a partially dominant X-linked trait, is the most frequent inborn error of the urea cycle. We describe a female patient with a contiguous gene deletion syndrome encompassing the OTC, DMD, RPGR, CYBB and XK genes, amongst others, only manifesting features of OTC deficiency. Molecular characterization was ascertained by MLPA and confirmed by CGH microarray, which revealed an 8.7 Mb deletion of the X-chromosome. Complete de novo deletion of the OTC gene led to a severe clinical phenotype in the proband. The application of high resolution molecular genetic techniques such as MLPA and array CGH, in mutation negative OTC cases allows the identification of chromosomal rearrangements, such as large deletions and provides information for accurate genetic counseling and prenatal diagnosis. |
| Databáze: | OpenAIRE |
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