Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome

Zhang, Miao; Zhou, Yaqi; Yang, Peng; Jin, Lijun

doi:10.3892/mmr.2018.9041

Cited by 3 publications

(1 citation statement)

References 11 publications

(15 reference statements)

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“…Missense FBN1 mutations are generally localized in cbEGF which disrupts the stability of elastic fibers. 6 Patient one and patient two had missense mutations with MFS clinical features. Missense mutations affect the structure of fibrillin-1 and disrupt the function.…”

Section: Discussionmentioning

confidence: 94%

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Yalçıntepe

Demır

Atlı

et al. 2020

Global Medical Genetics

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Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of the pulmonary artery) may be life-threatening. We report here the genetic analysis results of three unrelated cases clinically diagnosed as Marfan syndrome. Deoxyribonucleic acid (DNA) was isolated from EDTA (ethylenediaminetetraacetic acid)-blood samples of the patients. A next-generation sequencing panel containing 15 genes including FBN1 was used to determine the underlying pathogenic variants of Marfan syndrome. Three different variations, NM_000138.4(FBN1):c.229G > A(p.Gly77Arg), NM_000138.4(FBN1):c.165–2A > G (novel), NM_000138.4(FBN1):c.399delC (p.Cys134ValfsTer8) (novel) were determined in our three cases referred with a prediagnosis of Marfan syndrome. Our study has confirmed the utility of molecular testing in Marfan syndrome to support clinical diagnosis. With an accurate diagnosis and genetic counseling for prognosis of patients and family testing, the prenatal diagnosis will be possible.

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Section: Discussionmentioning

confidence: 94%

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Yalçıntepe

Demır

Atlı

et al. 2020

Global Medical Genetics

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Human DNA Mutations and their Impact on Genetic Disorders

Samir

2024

BIOT

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DNA is a remarkably precise medium for copying and storing biological information. It serves as a design for cellular machinery that permits cells, organs, and even whole organisms to work. The fidelity of DNA replication results from the action of hundreds of genes involved in proofreading and damage repair. All human cells can acquire genetic changes in their DNA all over life. Genetic mutations are changes to the DNA sequence that happen during cell division when the cells make copies of themselves. Mutations in the DNA can cause genetic illnesses such as cancer, or they could help humans better adapt to their environment over time. The endogenous reactive metabolites, therapeutic medicines, and an excess of environmental mutagens, such as UV rays all continuously damage DNA, compromising its integrity. One or more chromosomal alterations and point mutations at a single site (monogenic mutation) including deletions, duplications, and inversions illustrate such DNA mutations. Genetic conditions can occur when an altered gene is inherited from parents, which increases the risk of developing that particular condition, or some gene alterations can happen randomly. Moreover, symptoms of genetic conditions depend on which gene has a mutation. There are many different diseases and conditions caused by mutations. Some of the most common genetic conditions are Alzheimer’s disease, some cancers, cystic fibrosis, Down syndrome, and sickle cell disease. Interestingly, scientists find that DNA mutations are more common than formerly thought. This review outlines the main DNA mutations that occur along the human genome and their influence on human health.

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3D Printed Personalized External Aortic Root Model in Marfan Syndrome with Isolated Sinus of Valsalva Aneurysm Caused by a Novel Pathogenic FBN1 p.Gly1127Cys Variant

et al. 2021

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The major cause of death in Marfan syndrome (MFS) is cardiovascular complications, particularly progressive dilatation of the proximal aorta, rendering these patients at risk of aortic dissection or fatal rupture. We report a 3D printed personalized external aortic root model for MFS with an isolated sinus of Valsalva aneurysm caused by a novel pathogenic FBN1 variant. A 67-year-old female with a history of lens dislocation and retinal detachment in the left eye was admitted for the evaluation of resting dyspnea several months prior. Transesophageal and transthoracic echocardiography revealed severe aortic valve regurgitation and a large left coronary sinus of Valsalva aneurysm in the proband. Sanger sequencing identified a heterozygous p.Gly1127Cys variant in the FBN1 gene; previously, a mutation at this amino acid position was described as pathogenic (p.Gly1127Ser; rs137854468). A 3D printed personalized external aortic root model based on a multidetector computed tomography scan was constructed to illustrate the location of the ostium of the left main coronary artery on the aneurysm of the left coronary artery cusp. Aortic root replacement with the Bentall procedure matched the exact shape of the 3D printed model. Creation of a 3D printed patient-specific model could be useful in facilitating the development of next-generation medical devices and resolving the risks of postoperative complications and aortic root disease.

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Two rare missense mutations in the fibrillin‑1 gene associated with atypical cardiovascular manifestations in a Chinese patient affected by Marfan syndrome

Cited by 3 publications

References 11 publications

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Two Novel Pathogenic FBN1 Variations and Their Phenotypic Relationship of Marfan Syndrome

Human DNA Mutations and their Impact on Genetic Disorders

3D Printed Personalized External Aortic Root Model in Marfan Syndrome with Isolated Sinus of Valsalva Aneurysm Caused by a Novel Pathogenic FBN1 p.Gly1127Cys Variant

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