ArticleBMC medical genomics2023
A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations.
Article in BMC medical genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed, 9 citations in OpenAlex.
- Congenital syndromic Chiari-like malformation (CSCM) in Holstein cattle: towards unravelling of possible genetic causes.Acta veterinaria Scandinavica · 2024Article
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3 authors at 1 institution in 1 country.
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Abstract
backgroundMarfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder affecting the cardiovascular, skeletal, and ophthalmic systems. This report aimed to describe a novel genetic background and treatment prognosis of MFS. CASE PRESENTATION: A proband was initially diagnosed with bilateral pathologic myopia and suspected MFS. We performed whole exome sequencing and found a pathogenic nonsense FBN1 mutation in the proband, which confirmed the diagnosis of MFS. Notably, we identified a second pathogenic nonsense mutation in SDHB, which increased the risk of tumours. In addition, the proband karyotype was X trisomy, which may cause X trisomy syndrome. At the 6-month follow-up after posterior scleral reinforcement surgery, the proband's visual acuity improved significantly; however, myopia was still progressing.
conclusionsWe report a rare case of MFS with a X trisomy genotype, a mutation in FBN1 and a mutation in SDHB for the first time, and our findings could be helpful for the clinical diagnosis and treatment of this disease.
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