NDLI: Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)

Please wait, while we are loading the content...

Biochemical Genetics : Volume 55

Biochemical Genetics : Volume 54

Biochemical Genetics : Volume 53

Biochemical Genetics : Volume 52

Biochemical Genetics : Volume 52, Issue 11-12, December 2014

Biochemical Genetics : Volume 52, Issue 9-10, October 2014

Biochemical Genetics : Volume 52, Issue 7-8, August 2014

Biochemical Genetics : Volume 52, Issue 5-6, June 2014

Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)

BAGY2 Retrotransposon Analyses in Barley Calli Cultures and Regenerated Plantlets

Mitochondrial DNA Diversity of Honey Bees (Apis mellifera) from Unmanaged Colonies and Swarms in the United States

Association Between Haptoglobin 2-2 Genotype and Coronary Artery Disease and Its Severity in a Tunisian Population

Morphological and Genetic Variations of the Freshwater Leech, Hirudinaria spp., in Peninsular Malaysia

Microsatellite Markers to Determine Population Genetic Structure in the Golden Anchovy, Coilia dussumieri

Identification of an Isoform of Colony-Stimulating Factor 1 Receptor mRNA in the Rat Testis

Biochemical Genetics : Volume 52, Issue 3-4, April 2014

Biochemical Genetics : Volume 52, Issue 1-2, February 2014

Biochemical Genetics : Volume 51

Biochemical Genetics : Volume 50

Biochemical Genetics : Volume 49

Biochemical Genetics : Volume 48

Biochemical Genetics : Volume 47

Biochemical Genetics : Volume 46

Biochemical Genetics : Volume 45

Biochemical Genetics : Volume 44

Biochemical Genetics : Volume 43

Biochemical Genetics : Volume 42

Biochemical Genetics : Volume 41

Biochemical Genetics : Volume 40

Biochemical Genetics : Volume 39

Biochemical Genetics : Volume 38

Biochemical Genetics : Volume 37

Biochemical Genetics : Volume 36

Biochemical Genetics : Volume 35

Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)

Content Provider	Springer Nature Link
Author	Stevic, Ivan Kozenko, Mariya LoStracco, Robert Chan, Anthony K. C. Chan, Howard H. W.
Copyright Year	2014
Abstract	Marfan syndrome is an autosomal dominant disease caused by mutations in the gene encoding for fibrillin-1 (FBN1). More than 1,000 FBN1 mutations have been identified, which may lead to multiple organ involvement, particularly of the ocular, skeletal, and cardiovascular systems. Mutations in exons 59–65 have been reported in the past to cause mild Marfan-like fibrillinopathies. We report a family with a mutation in exon 63 that manifests with significant cardiovascular system involvement such as aortic root dilatations, dissection of the aorta, and sudden death at a young age. Genetic analysis revealed that four related individuals are positive for a novel heterozygous Cys2633Arg mutation in exon 63. Their genotype–phenotype profile (based on the revised Ghent nosology) is described. We postulate that the Cys2633Arg mutation may manifest with significant and progressive enlargement of the aortic root, risk of aortic dissections, and minor skeletal abnormalities, without involving the ocular system (i.e., ectopia lentis).
Starting Page	225
Ending Page	232
Page Count	8
File Format	PDF
ISSN	00062928
Journal	Biochemical Genetics
Volume Number	52
Issue Number	5-6
e-ISSN	15734927
Language	English
Publisher	Springer US
Publisher Date	2014-02-07
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Aortic aneurysm Dissections Fibrillin-1 mutation Marfan syndrome Human Genetics Biochemistry Zoology Medical Microbiology
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine Biochemistry Molecular Biology Ecology, Evolution, Behavior and Systematics

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)

A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

Therapy of Marfan Syndrome

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections

Genotype and Phenotype Analysis of 171 Patients Referred for Molecular Study of the Fibrillin-1 Gene FBN1 Because of Suspected Marfan Syndrome

Marfan syndrome: clinical consequences resulting from a medicolegal autopsy of a case of sudden death due to aortic rupture

Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature

Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)

Similar Documents

Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)

A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype

Therapy of Marfan Syndrome

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections

Genotype and Phenotype Analysis of 171 Patients Referred for Molecular Study of the Fibrillin-1 Gene FBN1 Because of Suspected Marfan Syndrome

Marfan syndrome: clinical consequences resulting from a medicolegal autopsy of a case of sudden death due to aortic rupture

Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature

Phenotype Presentation for a Novel Mutation Affecting a Conserved Cysteine Residue in Exon 63 of Fibrillin-1 (Cys2633Arg)