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dc.contributor.authorChureerat Phokaewen_US
dc.contributor.authorRekwan Sittiwangkulen_US
dc.contributor.authorKanya Suphapeetipornen_US
dc.contributor.authorVorasuk Shotelersuken_US
dc.description.abstract© 2020 A phenotype of an individual is resulted from an interaction among variants in several genes. Advanced molecular technologies allow us to identify more patients with mutations in more than one genes. Here, we studied a Thai woman with combined clinical features of Marfan (MFS) and Beals (BS) syndromes including frontal bossing, enophthalmos, myopia, the crumpled appearance to the top of the pinnae, midface hypoplasia, high arched palate, dermal stretch marks, aortic enlargement, mitral valve prolapse and regurgitation, aortic root dilatation, and progressive scoliosis. The aortic root enlargement was progressive to a diameter of 7.2 cm requiring an aortic root replacement at the age of 8 years. At her last visit when she was 19 years old, she had moderate aortic regurgitation. Exome sequencing revealed that she carried the c.3159C > G (p.Cys1053Trp) in exon 26 of FBN1 and c.2638G > A (p. Gly880Ser) in exon 20 of FBN2. The variant in FBN1 was de novo, while that in FBN2 was inherited from her unaffected mother. Both genes encode for fibrillins, which are essential for elastic fibers and can form the heterotypic microfibrils. Two defective fibrillins may synergistically worsen cardiovascular manifestations seen in our patient. In this study, we identified the fourth patient with both MFS and BS, carrying mutations in both FBN1 and FBN2.en_US
dc.subjectBiochemistry, Genetics and Molecular Biologyen_US
dc.titleDouble heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromesen_US
article.title.sourcetitleEuropean Journal of Medical Geneticsen_US
article.volume63en_US Universityen_US Chulalongkorn Memorial Hospital, Faculty of Medicine Chulalongkorn Universityen_US Mai Universityen_US
Appears in Collections:CMUL: Journal Articles

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