Preimplantation Genetic Diagnosis in Marfan Syndrome

Vlahos, Nikolaos; Triantafyllidou, Olga; Vitoratos, N.; Grigoriadis, C; Creatsas, G.

doi:10.1155/2013/542961

Cited by 7 publications

(2 citation statements)

References 12 publications

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“…In addition, this technique would only work in conjunction with IVF and PGD, which are already established methods of screening for embryos without deleterious mutations, without the associated risks of off-target gene editing. IVF and PGD alone have been used with great success for selection of embryos without a genetic predisposition to some CVDs, including Marfan syndrome, myotonic dystrophy, and DiGeorge syndrome, in at-risk families 60 , 61 , 62 . In these cases, autosomal dominant or X-linked mutations can be identified before IVF.…”

Section: Tackling Cvd By Correcting Disease-associated Mutations: Crimentioning

confidence: 99%

Cardiovascular Precision Medicine in the Genomics Era

Dainis

Ashley²

2018

JACC: Basic to Translational Science

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SummaryPrecision medicine strives to delineate disease using multiple data sources—from genomics to digital health metrics—in order to be more precise and accurate in our diagnoses, definitions, and treatments of disease subtypes. By defining disease at a deeper level, we can treat patients based on an understanding of the molecular underpinnings of their presentations, rather than grouping patients into broad categories with one-size-fits-all treatments. In this review, the authors examine how precision medicine, specifically that surrounding genetic testing and genetic therapeutics, has begun to make strides in both common and rare cardiovascular diseases in the clinic and the laboratory, and how these advances are beginning to enable us to more effectively define risk, diagnose disease, and deliver therapeutics for each individual patient.

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Section: Tackling Cvd By Correcting Disease-associated Mutations: Crimentioning

confidence: 99%

Cardiovascular Precision Medicine in the Genomics Era

Dainis

Ashley²

2018

JACC: Basic to Translational Science

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“…A total of 12 studies have reported PGD of MFS since an initial report using reverse transcription (RT-)PCR [ 20 ]. Direct PCR analysis of mutations [ 21 – 26 ] has also been used along with linkage analysis [ 27 – 30 ]. A recent study described a successful PGD for an MFS couple based on karyomapping and direct mutation detection combined with linked short tandem repeat (STR) marker analysis that resulted in the birth of healthy twins [ 31 ].…”

Section: Introductionmentioning

confidence: 99%

De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation

et al. 2017

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BackgroundMarfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic mutation in a male patient with MFS and to determine whether his offspring would be free of the disease.Material/MethodsThe history and pedigree of the proband were analyzed. Mutation analysis was performed on the couple and immediate family members. The couple chose IVF treatment and 4 blastocysts were biopsied. PGD was carried out by targeted high-throughput sequencing of the FBN1 gene in the embryos, along with single-nucleotide polymorphism haplotyping. Sanger sequencing was used to confirm the causative mutation.Resultsc.2647T>C (p.Trp883Arg) was identified as the de novo likely pathogenic mutation in the proband. Whole-genome amplification and sequencing of the 3 embryos revealed that they did not carry the mutation, and 1 blastocyst was transferred back to the uterus. The amniocentesis test result analyzed by Sanger sequencing confirmed the PGD. A premature but healthy infant free of heart malformations was born.ConclusionsThe de novo mutation c.2647T>C (p.Trp883Arg) in FBN1 was identified in a Chinese patient with MFS. Embryos without the mutation were identified by PGD and resulted in a successful pregnancy.

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