Marfan Syndrome Caused by Disruption of the <i>FBN1</i> Gene due to A Reciprocal Chromosome Translocation

Marfan Syndrome Caused by Disruption of the <i>FBN1</i> Gene due to A Reciprocal Chromosome Translocation

Marfan syndrome (MFS) is a hereditary connective tissue disease caused by heterozygous mutations in the fibrillin-1 gene (<i>FBN1</i>) located on chromosome 15q21.1. A complex chromosomal rearrangement leading to MFS has only been reported in one case so far. We report on a mother and da...

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Bibliographic Details
Main Authors: Anna Clara Schnause, Katalin Komlosi, Barbara Herr, Jürgen Neesen, Paul Dremsek, Thomas Schwarz, Andreas Tzschach, Sabine Jägle, Ekkehart Lausch, Judith Fischer, Birgitta Gläser
Format: Article
Language:English
Published: MDPI AG 2021-11-01
Series:Genes
Subjects:
<i>FBN1</i>
Marfan syndrome
apparently balanced chromosomal rearrangements (ABCR)
optical genome mapping (OGM)
gene disruption
Online Access:https://www.mdpi.com/2073-4425/12/11/1836

Internet

https://www.mdpi.com/2073-4425/12/11/1836

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