%0 Case Reports
%T A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations.
%A Lin J
%A Lin Y
%A Wang G
%J BMC Med Genomics
%V 16
%N 1
%D 2023 05 27
%M 37245000
%F 3.622
%R 10.1186/s12920-023-01551-6
%X 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.<BR>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.<BR>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.