Postmortem diagnosis of Marfan syndrome in a case of sudden death due to aortic rupture: Detection of a novel FBN1 frameshift mutation

Yunyun Wang,Shu Chen,Rongshuai Wang,Sizhe Huang,Mingzhen Yang,Liang Liu,Qian Liu

Forensic Science International（2016）

Cited 7|Views15

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Abstract

•Medicolegal autopsy of a Chinese man led to a diagnosis of Marfan's syndrome.•Fibrillin-1 sequencing identified four known SNPs and one novel frameshift mutation.•Genetic testing revealed that the deceased's son did not carry the mutations.

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Key words

Marfan syndrome,Frameshift mutation,FBN1,Autopsy

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