Skeletal and spinal radiographic findings are described in five individuals of a three-generation kindred with kyphoscoliosis. The affected individuals have a novel FBN1 gene mutation, G1796E. To our knowledge, this is the first report of a family with an FBN1 gene mutation cosegregating with an unusual autosomal dominant progressive kyphoscoliosis of variable severity, together with radiological abnormalities of the spine, and some skeletal but no ocular or cardiac manifestations of Marfan syndrome. This previously undescribed phenotype represents yet another in the widening spectrum of fibrillinopathies caused by an FBN1 gene mutation.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.10333 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Marfan syndrome: insights from animal models.
Front Genet
January 2025
Sichuan Provincial Key Laboratory for Genetic Disease, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Marfan syndrome (MFS) is an inherited disorder that affects the connective tissues and mainly presents in the bones, eyes, and cardiovascular system, etc. Aortic pathology is the leading cause of death in patients with Marfan syndrome. The fibrillin-1 gene () is a major gene involved in the pathogenesis of MFS.
View Article and Find Full Text PDFHuman stem cell models for Marfan syndrome: a .
Front Cell Dev Biol
January 2025
Medical Cell Biology Research Group, Department of Human Structure and Repair, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium.
The introduction of pluripotent stem cells into the field of disease modelling resulted in numerous opportunities to study and uncover disease mechanisms in a petri dish. This promising avenue has also been applied to model Marfan syndrome, a disease affecting multiple organ systems, including the skeletal and cardiovascular system. Marfan syndrome is caused by pathogenic variants in , the gene encoding for the extracellular matrix protein fibrillin-1 which ensembles into microfibrils.
View Article and Find Full Text PDFA novel in-frame deletion flanking exon 54 of the FBN1 gene in a Japanese girl with Marfan syndrome.
Pediatr Int
January 2025
Department of Medical Genetics, Sakakibara Heart Institute, Tokyo, Japan.
Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.
Clin Genet
January 2025
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
In 2021, the Indian Undiagnosed Diseases Program was initiated for patients without a definite diagnosis despite extensive evaluation in four participating sites. Between February 2021 and March 2023, a total of 88 patients were recruited and underwent deep phenotyping. A uniform methodology for data re-analysis was implemented as the first step prior to conducting additional genomic testing.
View Article and Find Full Text PDFMetformin's impact on asprosin and FBN1 expression: Potential mechanisms beyond insulin sensitivity in type 2 diabetes in rats.
Curr Res Pharmacol Drug Discov
December 2024
Pregnancy Health Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
Background: Asprosin, a novel adipokine released under fasting conditions, may play a significant role in the pathophysiology of type 2 diabetes mellitus (T2DM). The objective of this study is to investigate the effects of metformin on serum asprosin levels and FBN1 gene expression in white adipose tissue in male rats.
Methods: Thirty-two male Wistar rats were randomly and equally divided into four groups (n = 8): 1.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!