ArticlePrenatal diagnosis2017
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.
Article in Prenatal diagnosis, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 24 citations in OpenAlex.
- Article
- Long-read sequencing for brain tumors.Frontiers in oncology · 2024Review
- Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with aFrontiers in genetics · 2023Article
- From Genomics to Metagenomics in the Era of Recent Sequencing Technologies.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges.Prenatal diagnosis · 2022Review
- Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.Molecular genetics & genomic medicine · 2022Article
- Long-read sequencing on the SMRT platform enables efficient haplotype linkage analysis in preimplantation genetic testing for β-thalassemia.Journal of assisted reproduction and genetics · 2022Article
- Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.Scientific reports · 2021Article
- The third generation sequencing: the advanced approach to genetic diseases.Translational pediatrics · 2020Review
- Paternal sperm DNA mosaicism and recurrence risk of autism in families.Nature medicine · 2020Article
- Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution.Frontiers in pediatrics · 2020Review
- Autism risk in offspring can be assessed through quantification of male sperm mosaicism.Nature medicine · 2020Article
- Long-Read Sequencing Emerging in Medical Genetics.Frontiers in genetics · 2019Review
- Graft versus host disease and microchimerism in aAllergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2019Article
- Long reads: their purpose and place.Human molecular genetics · 2018Review
- Rapid and reliable diagnostic method to detect Zika virus by real-time fluorescence reverse transcription loop-mediated isothermal amplification.AMB Express · 2018Article
- Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.Nucleic acids research · 2018Review
- A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders.Prenatal diagnosis · 2017Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveDe novo mutations contribute significantly to severe early-onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending on in which gonadal generation the mutation occurred.
methodsWe demonstrate the power of using SMRT sequencing and ddPCR to determine parental origin and allele frequencies of de novo mutations in germ cells in two families whom had undergone assisted reproduction.
resultsIn the first family, a TCOF1 variant c.3156C>T was identified in the proband with Treacher Collins syndrome. The variant affects splicing and was determined to be of paternal origin. It was present in <1% of the paternal germ cells, suggesting a very low recurrence risk. In the second family, the couple had undergone several unsuccessful pregnancies where a de novo mutation PTPN11 c.923A>C causing Noonan syndrome was identified. The variant was present in 40% of the paternal germ cells suggesting a high recurrence risk.
conclusionsOur findings highlight a successful strategy to identify the parental origin of mutations and to investigate the recurrence risk in couples that have undergone assisted reproduction with an unknown donor or in couples with gonadal mosaicism that will undergo preimplantation genetic diagnosis.
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