ArticleKidney diseases (Basel, Switzerland)2021
Preimplantation Genetic Testing Prevented Intergenerational Transmission of X-Linked Alport Syndrome.
Article in Kidney diseases (Basel, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Identification of novel COL4A5 variants and prenatal diagnosis in three large families.Scientific reports · 2025Article
- Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.Molecular genetics & genomic medicine · 2024Article
- Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in theFrontiers in pediatrics · 2023Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlport syndrome (AS) is a hereditary renal basement membrane disease that can lead to end-stage renal disease in young adults. It can be diagnosed by genetic analysis, being mostly caused by mutations in
objectivesThe aim of this study was to avoid the transmission of AS within an affected family by selecting healthy embryos for uterine transfer. The embryos were identified by preimplantation genetic testing for monogenic disorders (PGT-M).
methodsWe used next-generation sequencing (NGS) to identify mutations in the proband and his parents. The results of NGS were confirmed by Sanger sequencing. Targeted NGS combined with targeted single-nucleotide polymorphism haplotyping was used for the in vitro identification of
resultsThe c.349_359delGGACCTCAAGG and c.360_361insTGC mutations in
conclusionsThe use of targeted NGS for identifying diagnostic markers combined with targeted haplotyping is an easy and efficient PGT-M method for preventing intergenerational transmission of AS.
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