NA21976
DNA from Fibroblast
Description:
MARFAN SYNDROME; MFS
FIBRILLIN 1; FBN1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Unspecified
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
4.51 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Gene |
FBN1 |
| Chromosomal Location |
15q21.1 |
| Allelic Variant 1 |
E1158X; MARFAN SYNDROME |
| Identified Mutation |
3445insC |
| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
34 YR |
| Sex |
Female |
| |
| Data Elements |
| Clinical Element Type: Marfan's Syndrome |
| (Baseline) |
| Inheritance |
| Family history of Marfan Syndrome |
Yes No Unknown |
| If yes, give relationship of affected family members |
No Data |
| Growth |
| Length at birth in cm |
No Data |
| Adult height in cm |
No Data |
| Disproportionate tall stature |
Yes No Unknown |
| Arm span to height ratio (give ratio) |
No Data |
| 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 |
| If yes, type: |
Unilateral |
| Myopia |
Yes No Unknown |
| If yes, type |
No Data |
| 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 |
| If yes, give age at diagnosis (yrs) |
No Data |
| 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) |
No Data |
| 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 |
| If yes, type: |
No Data |
| Pectus carinatum |
Yes No Unknown |
| If yes, type: |
No Data |
| Thoracic asymmetry |
Yes No Unknown |
| Abdomen |
| Hernia |
Yes No Unknown |
| If yes, give type(s): |
Hiatal |
| Skeletal |
| Premature arthritis |
Yes No Unknown |
| Scoliosis |
Yes No Unknown |
| If yes, type: |
No Data |
| 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 |
| If yes, give mutation |
No Data |
| Remarks |
Clinically affected; sternum has part excavatum deformity and part has carinatum deformity; scoliosis; high narrow palate; contractures, including hammertoes; hypermobile small joints; hypermobile large joints; positive wrist sign; positive thumb sign; arachnodactyly; unilateral ectopia lentis; retinal detachment; mitral valve prolapse; mitral regurgitation; pneumothorax; hiatal hernia; striae; donor subject has a 1 bp insertion at nucleotide 3445 in exon 27 of the FBN1 gene (3445insC) resulting in a premature stop at codon 1158 [Glu1158Ter (E1158X)] |
| Xia Y, Katz M, Chandramohan D, Bechor E, Podgursky B, Hoxie M, Zhang Q, Chertman W, Kang J, Blue E, Chen J, Schleede J, Slotnick NR, Du X, Boostanfar R, Urcia E, Behr B, Cohen J, Siddiqui N, The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos F&S reports5:63-71 2023 |
| PubMed ID: 38524212 |
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| 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 |
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