Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes

© 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)...

Full description

Saved in:
Bibliographic Details
Main Authors: Chureerat Phokaew, Rekwan Sittiwangkul, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Format: Journal
Published: 2020
Subjects:
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85086602743&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/70183
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Chiang Mai University
id th-cmuir.6653943832-70183
record_format dspace
spelling th-cmuir.6653943832-701832020-10-14T08:41:15Z Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes Chureerat Phokaew Rekwan Sittiwangkul Kanya Suphapeetiporn Vorasuk Shotelersuk Biochemistry, Genetics and Molecular Biology Medicine © 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. 2020-10-14T08:25:17Z 2020-10-14T08:25:17Z 2020-09-01 Journal 18780849 17697212 2-s2.0-85086602743 10.1016/j.ejmg.2020.103982 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85086602743&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/70183
institution Chiang Mai University
building Chiang Mai University Library
continent Asia
country Thailand
Thailand
content_provider Chiang Mai University Library
collection CMU Intellectual Repository
topic Biochemistry, Genetics and Molecular Biology
Medicine
spellingShingle Biochemistry, Genetics and Molecular Biology
Medicine
Chureerat Phokaew
Rekwan Sittiwangkul
Kanya Suphapeetiporn
Vorasuk Shotelersuk
Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes
description © 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.
format Journal
author Chureerat Phokaew
Rekwan Sittiwangkul
Kanya Suphapeetiporn
Vorasuk Shotelersuk
author_facet Chureerat Phokaew
Rekwan Sittiwangkul
Kanya Suphapeetiporn
Vorasuk Shotelersuk
author_sort Chureerat Phokaew
title Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes
title_short Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes
title_full Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes
title_fullStr Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes
title_full_unstemmed Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes
title_sort double heterozygous variants in fbn1 and fbn2 in a thai woman with marfan and beals syndromes
publishDate 2020
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85086602743&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/70183
_version_ 1681752856288296960