Fibrillin protein pleiotropy: Acromelic dysplasias

Matrix Biology : Journal of the International Society for Matrix Biology
Lynn Y Sakai, Douglas R Keene

Abstract

The fibrillins are large extracellular matrix molecules that polymerize to form microfibrils. Fibrillin microfibrils are distinctive architectural elements that are both ubiquitous in the connective tissue space and also unique, displaying tissue-specific patterns. Mutations in the genes for fibrillin-1 (FBN1) result in multiple distinct pleiotropic disorders. Most of the more than 3000 mutations known today in FBN1 cause the Marfan syndrome. Marfan mutations can occur in any of the 56 domains that compose fibrillin-1. In contrast, rare mutations in FBN1 that are confined to only certain domains cause several different types of acromelic dysplasia. These genetic disorders demonstrate that specific domains of fibrillin-1 perform roles important to musculoskeletal growth. Many of the phenotypes of acromelic dysplasias are the opposite of those found in Marfan syndrome. Knowledge of the functions and structural organization of fibrillin molecules within microfibrils is required to understand how one protein and one gene can be the basis for multiple genetic disorders.

Citations

Aug 15, 2019·Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society·Nandaraj TayeDirk Hubmacher
Jun 16, 2019·Cellular and Molecular Life Sciences : CMLS·Takeshi OichiTaku Saito
Apr 5, 2019·Annals of Pediatric Endocrinology & Metabolism·Shanna YueYoun Hee Jee
May 15, 2020·The British Journal of Ophthalmology·Yuan YangZhao-Yang Wang
Jan 13, 2021·Ageing Research Reviews·Andrea Heinz
Sep 4, 2020·Annals of the New York Academy of Sciences·Sarah StanleyDirk Hubmacher
Jun 9, 2020·Trends in Molecular Medicine·Aline VerstraetenBart Loeys
Apr 1, 2021·Scientific Reports·João CastroRenata Freitas
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Aug 20, 2021·Journal of Orthopaedic Surgery and Research·Yumei BaiYumei Zhang
Aug 27, 2021·Matrix Biology Plus·Annkatrin CorrensGerhard Sengle

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