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GM21974
Fibroblast
from
Skin, Unspecified
Description:
MARFAN SYNDROME; MFS
FIBRILLIN 1; FBN1
Affected:
Yes
Sex:
Female
Age:
58
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
Publications
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
Biopsy Source
Unspecified
Cell Type
Fibroblast
Tissue Type
Skin
Transformant
Untransformed
Sample Source
Fibroblast from Skin, Unspecified
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
Clinically affected; pectus carinatum; scoliosis; high narrow palate; dental crowding; contractures, including hammertoes; hypermobile small joints; hypermobile large joints; positive wrist sign; positive thumb sign; arachnodactyly; myopia; ascending aortic aneurysm; aortic dissection; aortic root replacement at age 51 years; striae; donor subject has a C>T change at nucleotide 2581 in exon 21 of the FBN1 gene (2581C>T) resulting in a premature stop codon [Arg861Ter (R861X)]
Characterizations
PDL at Freeze
6.88
Passage Frozen
10
IDENTIFICATION OF SPECIES OF ORIGIN
Species of Origin confirmed by LINE assay
Gene
FBN1
Chromosomal Location
15q21.1
Allelic Variant 1
R861X; MARFAN SYNDROME
Identified Mutation
ARG861TER
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
58 YR
Sex
Female
Data Elements
Clinical Element Type: Marfan's Syndrome
(Baseline)
Inheritance
Family history of Marfan Syndrome
Yes
No
Unknown
Growth
Disproportionate tall stature
Yes
No
Unknown
Puberty-associated peak in growth velocity
Yes
No
Unknown
Head and Neck
Dolichocephaly
Yes
No
Unknown
Long, narrow face
Yes
No
Unknown
Malar hypoplasia
Yes
No
Unknown
Micrognathia
Yes
No
Unknown
Retrognathia
Yes
No
Unknown
Enophthalmos
Yes
No
Unknown
Ectopia lentis
Yes
No
Unknown
Myopia
Yes
No
Unknown
Increased axial globe length
Yes
No
Unknown
Corneal flatness
Yes
No
Unknown
Retinal detachment
Yes
No
Unknown
Iris hypoplasia
Yes
No
Unknown
Early glaucoma
Yes
No
Unknown
Early cataracts
Yes
No
Unknown
Down-slanting palpebral fissures
Yes
No
Unknown
High-arched palate
Yes
No
Unknown
Narrow palate
Yes
No
Unknown
Dental Crowding (malocclusion)
Yes
No
Unknown
Cardiovascular
Aortic regurgitation
Yes
No
Unknown
Mitral regurgitation
Yes
No
Unknown
Mitral valve prolapse
Yes
No
Unknown
Congestive heart failure
Yes
No
Unknown
Tricuspid valve prolapse
Yes
No
Unknown
Premature calcification of mitral annulus
Yes
No
Unknown
Aortic root dilatation (ascending aorta)
Yes
No
Unknown
Aortic dissection (ascending aorta)
Yes
No
Unknown
Ascending aortic aneurysm
Yes
No
Unknown
Dilatation or dissection of the descending or abdominal aorta before age 50
Yes
No
Unknown
Pulmonary artery dilatation
Yes
No
Unknown
Aortic root replacement
Yes
No
Unknown
If yes, give age at time of replacement (yrs)
51
Atrial septal defect
Yes
No
Unknown
Respiratory
Emphysema in most severe presentation
Yes
No
Unknown
Pneumothorax
Yes
No
Unknown
Pulmonary blebs
Yes
No
Unknown
Chest
Pectus excavatum
Yes
No
Unknown
Pectus carinatum
Yes
No
Unknown
Thoracic asymmetry
Yes
No
Unknown
Abdomen
Hernia
Yes
No
Unknown
Skeletal
Premature arthritis
Yes
No
Unknown
Scoliosis
Yes
No
Unknown
Kyphoscoliosis
Yes
No
Unknown
Thoracic lordosis
Yes
No
Unknown
Spondylolisthesis
Yes
No
Unknown
Lumbosacral dural ectasia
Yes
No
Unknown
Protrusio acetabulae
Yes
No
Unknown
Long bone overgrowth (dolichostenomelia)
Yes
No
Unknown
Joint laxity (hypermobility)
Yes
No
Unknown
If yes, list affected joints
SMALL AND LARGE JOINTS
Limited elbow extension
Yes
No
Unknown
Joint contractures
Yes
No
Unknown
Genu recurvatum
Yes
No
Unknown
Arachnodactyly
Yes
No
Unknown
Pes planus
Yes
No
Unknown
Long, narrow feet
Yes
No
Unknown
Pes cavus
Yes
No
Unknown
Hammer toes
Yes
No
Unknown
Medial rotation of the medial malleolus
Yes
No
Unknown
Muscle
Decreased muscle mass
Yes
No
Unknown
Skin, Nails, Hair
Striae distensae
Yes
No
Unknown
Decreased subcutaneous fat
Yes
No
Unknown
Central Nervous System
Dural ectasia
Yes
No
Unknown
major CNS involvement
Yes
No
Unknown
Laboratory Abnormalities
Decreased fibrillin-1 immunostaining in the dermis
Yes
No
Unknown
Molecular Basis
Mutation in FBN1 gene
Yes
No
Unknown
Remarks
Clinically affected; pectus carinatum; scoliosis; high narrow palate; dental crowding; contractures, including hammertoes; hypermobile small joints; hypermobile large joints; positive wrist sign; positive thumb sign; arachnodactyly; myopia; ascending aortic aneurysm; aortic dissection; aortic root replacement at age 51 years; striae; donor subject has a C>T change at nucleotide 2581 in exon 21 of the FBN1 gene (2581C>T) resulting in a premature stop codon [Arg861Ter (R861X)]
Publications
Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U
, Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes American journal of human genetics71:223-37 2002
PubMed ID:
12068374
External Links
Gene Cards
FBN1
Gene Ontology
GO:0001501 skeletal development
GO:0005201 extracellular matrix structural constituent
GO:0005509 calcium ion binding
GO:0005578 extracellular matrix
GO:0005615 extracellular space
GO:0007275 development
GO:0007601 visual perception
NCBI Gene
Gene ID:2200
NCBI GTR
134797 FIBRILLIN 1; FBN1
154700 MARFAN SYNDROME; MFS
OMIM
134797 FIBRILLIN 1; FBN1
154700 MARFAN SYNDROME; MFS
Omim Description
MARFAN SYNDROME, TYPE I; MFS1
MARFAN SYNDROME; MFS
Culture Protocols
Passage Frozen
10
Split Ratio
1:3
Temperature
37 C
Percent CO2
10%
Percent O2
AMBIENT
Medium
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not inactivated
Substrate
None specified
Supplement
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
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