A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations
Abstract Background Marfan 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 diagnos...
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| Main Authors: | , , |
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| Format: | Book |
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BMC,
2023-05-01T00:00:00Z.
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| Summary: | Abstract Background Marfan 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. Conclusions We 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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| Item Description: | 10.1186/s12920-023-01551-6 1755-8794 |