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- Title
Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.
- Authors
Yokoi, Katsuyuki; Nakajima, Yoko; Inagaki, Hidehito; Tsutsumi, Makiko; Ito, Tetsuya; Kurahashi, Hiroki
- Abstract
Background: Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been reported, structural abnormalities in this gene are rare. We here describe a female OTCD case caused by an exonic duplication of the OTC gene (exons 1–6). Case presentation: A 23-year-old woman with late-onset OTCD diagnosed by biochemical testing was subjected to subsequent genetic testing. Sanger sequencing revealed no pathogenic mutation throughout the coding exons of the OTC gene, but multiplex ligation-dependent probe amplification (MLPA) revealed duplication of exons 1–6. Further genetic analyses revealed an inversion of duplicated exon 1 and a tandem duplication of exons 2–6. Each of the junctions of the inversion harbored a microhomology and non-templated microinsertion, respectively, suggesting a replication-based mechanism. The duplication was also of de novo origin but segregation analysis indicated that it took place in the paternal chromosome. Conclusion: We report the first OTCD case harboring an exonic duplication in the OTC gene. The functional defects caused by this anomaly were determined via structural analysis of its complex rearrangements.
- Subjects
ORNITHINE carbamoyltransferase deficiency; GENETIC mutation; GENETIC testing; EXONS (Genetics); CHROMOSOMES; STRUCTURAL analysis (Science)
- Publication
BMC Medical Genetics, 2018, Vol 19, Issue 1, p1
- ISSN
1471-2350
- Publication type
Case Study
- DOI
10.1186/s12881-018-0733-3