ArticleJournal of assisted reproduction and genetics2020
Analysis of balanced reciprocal translocations in patients with subfertility using single-molecule optical mapping.
Article in Journal of assisted reproduction and genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 50 citations in OpenAlex.
- Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy.Molecular cytogenetics · 2026Article
- Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study.Journal of translational medicine · 2026Article
- Recent advances in the detection technologies for balanced chromosomal rearrangements.Frontiers in genetics · 2026Review
- Genetic and Epigenetic Risks of Male Infertility in ART.International journal of molecular sciences · 2025Review
- The value of optical genomic mapping in a patient with azoospermia and a complex chromosomal rearrangement.Journal of assisted reproduction and genetics · 2025Article
- Whole-genome bisulfite sequencing of X and Y sperm in Holstein bulls reveals differences in autosomal methylation status.BMC genomics · 2025Article
- Optical genome mapping to decipher the chromosomal aberrations in families seeking for preconception genetic counseling.Scientific reports · 2025Article
- Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements.Frontiers in genetics · 2025Article
- Optical Genome Mapping for Chromosomal Aberrations Detection-False-Negative Results and Contributing Factors.Diagnostics (Basel, Switzerland) · 2024Article
- Methods of Detection and Mechanisms of Origin of Complex Structural Genome Variations.Methods in molecular biology (Clifton, N.J.) · 2024Review
- OGM and WES identifies translocation breakpoints in PKD1 gene in an polycystic kidney patient and healthy baby delivered using PGT.BMC medical genomics · 2023Article
- 11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocation.Molecular genetics & genomic medicine · 2023Article
- Identification of anInternational journal of molecular sciences · 2023Article
- Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis.Acta obstetricia et gynecologica Scandinavica · 2023Article
- Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing.BMC genomics · 2023Article
- Combination of trio-based whole exome sequencing and optical genome mapping reveals a cryptic balanced translocation that causes unbalanced chromosomal rearrangements in a family with multiple anomalies.Frontiers in genetics · 2023Article
- Analysis of chromosomal structural variations in patients with recurrent spontaneous abortion using optical genome mapping.Frontiers in genetics · 2023Article
- Balanced Translocation DisruptingHuman mutation · 2023Article
- Evaluation of optical genome mapping for detecting chromosomal translocation in clinical cytogenetics.Molecular genetics & genomic medicine · 2022Article
- Detection of a Cryptic 25 bp Deletion and a 269 Kb Microduplication by Nanopore Sequencing in a Seemingly Balanced Translocation Involving the LMLN and LOC105378102 Genes.Frontiers in genetics · 2022Article
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
purposeApproximately 1% of individuals who carry a balanced reciprocal translocation (BRT) are subfertile. Current karyotyping does not have the resolution to determine whether the breakpoints of the involved chromosomes perturb genes important for fertility. The aim of this study was to apply single-molecule optical mapping (SMOM) to patients presenting for IVF (in vitro fertilization) to ascertain whether the BRT disrupted any genes associated with normal fertility.
methodsNine subfertile patients with different BRTs were recruited for the study. Methyltransferase enzyme DLE1 was used to fluorescently label their genomic DNA samples at the recognition motif CTTAAG. The SMOM was performed on the Bionano platform, and long molecules aligned against the reference genome hg19 to identify the breakpoint regions. Mate-pair and PCR-Sanger sequencing were used to confirm the precise breakpoint sequences.
resultsBoth breakpoint regions in each of the nine BRTs were finely mapped to small regions of approximately 10 Kb, and their positions were consistent with original cytogenetic banding patterns determined by karyotyping. In three BRTs, breakpoints disrupted genes known to be associated with male infertility, namely NUP155 and FNDC3A [46,XY,t(5;13)(p15;q22)], DPY19L1 [46,XY,t(1;7)(p36.3;p15), and BAI3 [46,XY,t(3;6)(p21;q16)].
conclusionsThe SMOM has potential clinical application as a rapid tool to screen patients with BRTs for underlying genetic causes of infertility and other diseases.
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