ArticleHuman mutation2010
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 29 citations in OpenAlex.
- Increased Disarray of Extracellular Matrix Collagen-I Fiber Network and Compromised Biomechanics in Aortae From Marfan-Syndrome Mice Assessed Through Combined Opto-Biomechatronics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Double Heterozygous Pathogenic Variants in theGenes · 2023Article
- A Forme Fruste of Marfan Syndrome: A Case Report.Cureus · 2022Article
- A novel large in-frameCold Spring Harbor molecular case studies · 2022Article
- A Pilot Study Characterizing Flow Patterns in the Thoracic Aorta of Patients With Connective Tissue Disease: Comparison to Age- and Gender-Matched ControlsFrontiers in pediatrics · 2022Article
- Marfan syndrome.Nature reviews. Disease primers · 2021Review
- Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.Scientific reports · 2021Article
- Cysteine Substitution and Calcium-Binding Mutations inFrontiers in cell and developmental biology · 2021Article
- Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.Molecular genetics & genomic medicine · 2019Article
- Endovascular Repair of Bilateral Internal Mammary Artery Aneurysms in a Patient with Marfan Syndrome-A Case Report.The International journal of angiology : official publication of the International College of Angiology, Inc · 2016Article
- Marfan syndrome: current perspectives.The application of clinical genetics · 2016Review
- Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.Scientific reports · 2015Article
- Cardiovascular magnetic resonance in Marfan syndrome.Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance · 2013Review
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Authors and funding
14 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Marfan syndrome (MFS) is a dominant disorder with a recognizable phenotype. In most patients with the classical phenotype mutations are found in the fibrillin-1 gene (FBN1) on chromosome 15q21. It is thought that most mutations act in a dominant negative way or through haploinsufficiency. In 9 index cases referred for MFS we detected heterozygous missense mutations in FBN1 predicted to substitute the first aspartic acid of different calcium-binding Epidermal Growth Factor-like (cbEGF) fibrillin-1 domains. A similar mutation was found in homozygous state in 3 cases in a large consanguineous family. Heterozygous carriers of this mutation had no major skeletal, cardiovascular or ophthalmological features of MFS. In the literature 14 other heterozygous missense mutations are described leading to the substitution of the first aspartic acid of a cbEGF domain and resulting in a Marfan phenotype. Our data show that the phenotypic effect of aspartic acid substitutions in the first position of a cbEGF domain can range from asymptomatic to a severe neonatal phenotype. The recessive nature with reduced expression of FBN1 in one of the families suggests a threshold model combined with a mild functional defect of this specific mutation.
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