Genomics Precision Diagnostic > Connective Tissue Disorder > Marfan Syndrome Precision Panel

Marfan Syndrome Precision Panel – 34 genes

Marfan Syndrome (MFS) is a spectrum of disorders caused by a genetic defect of the connective tissue and it is inherited in an autosomal dominant pattern. Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, Marfan Syndrome is a pleiotropic syndrome affecting mainly musculoskeletal, cardiac and ocular systems.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Marfan Syndrome (MFS) is a spectrum of disorders caused by a genetic defect of the connective tissue and it is inherited in an autosomal dominant pattern. Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, Marfan Syndrome is a pleiotropic syndrome affecting mainly musculoskeletal, cardiac and ocular systems. The most severe of these manifestations include aortic root dilation and dissection, which are responsible for early patient demise. Pregnancy is a time of increased cardiovascular risk for women with Marfan syndrome, so an early diagnosis is key in pregnancy management.
The Igenomix Marfan Syndrome Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of connective tissue disorders due to their overlapping phenotypic features ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Marfan Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Subluxation of lenses
- Cardiovascular findings: mitral valve prolapse, aortic regurgitation, mitral regurgitation, aortic dilation, dissection or aneurysm
- Tall and thin stature
- Long fingers and toes
- Pectus carinatum or excavatum
- Scoliosis
- Hypermobile joints
- Severe hindfoot valgus

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. Understanding global and molecular functions of fibrillin containing microfibrils for the development of a comprehensive theory of pathogenesis.
Early initiation of treatment with a multidisciplinary team in the form of medical treatment and surveillance to prevent vascular complications and/or surgical care in case of development of vascular compromise.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation due to overlapping features of connective tissue disorders.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABL1*	Congenital Heart Defects And Skeletal Malformations Syndrome, Chronic Myeloid Leukemia	AD	99.93	8 of 8
*ADAMTS10*	Weill-Marchesani Syndrome	AR	99.94	12 of 12
*ADAMTS17*	Weill-Marchesani Syndrome	AR	95.56	9 of 9
*ADAMTSL4*	Ectopia Lentis	AR	100	27 of 27
*B3GAT3*	Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects	AR	99.86	15 of 15
*BGN*	Meester-Loeys Syndrome, Spondyloepimetaphyseal Dysplasia	X,XR,G	99.87	–
*CBS*	Homocystinuria	AR	99.98	192 of 194
*COL11A1*	Deafness, Fibrochondrogenesis, Marshall Syndrome, Stickler Syndrome, Myopia-Midfacial Retrusion- Sensorineural Hearing Loss- Rhizomelic Dysplasia Syndrome	AD,AR	100	104 of 106
*COL11A2*	Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal Dysplasia, Stickler Syndrome	AD,AR	99.98	58 of 58
*COL1A1*	Caffey Disease, Ehlers-Danlos Syndrome, Osteogenesis Imperfecta, Osteoporosis, Dermatofibrosarcoma Protuberans	AD	99.98	1156 of 1159
*COL1A2*	Ehlers-Danlos Syndrome, Osteogenesis Imperfecta, Osteoporosis	AD,AR	100	576 of 581
*COL2A1*	Achondrogenesis, Avascular Necrosis Of Femoral Head, Czech Dysplasia, Epiphyseal Dysplasia With Or Without Myopia And Conductive Deafness, Legg-Calve-Perthes Disease, Osteoarthritis With Mild Chondrodysplasia, Stickler Syndrome, Dysspondyloenchondromatosis, Kniest Dysplasia, Platyspondylic Dysplasia	AD,MU	100	583 of 583
*COL3A1*	Ehlers-Danlos Syndrome, Polymicrogyria, Acrogeria, Cerebral Saccular Aneurysm	AD,AR	100	676 of 676
*COL5A1*	Ehlers-Danlos Syndrome	AD	99.08	191 of 195
*COL5A2*	Ehlers-Danlos Syndrome	AD	100	45 of 45
*DLG4*	Intellectual Developmental Disorder	AD	99.83	13 of 13
*EFEMP2*	Cutis Laxa	AR	99.99	17 of 17
*FBN1*	Acromicric Dysplasia, Ectopia Lentis, Geleophysic Dysplasia, Marfan Syndrome, Mass Syndrome, Stiff Skin Syndrome, Weill-Marchesani Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection, Glaucoma- Ectopia Lentis- Microspherophakia-Stiff Joints-Short Stature Syndrome, Shprintzen– Goldberg Syndrome	AD	100	2836 of 2845
*FBN2*	Contractural Arachnodactyly, Macular Degeneration	AD	100	115 of 115
*LOX*	Aortic Aneurysm, Aortic Dissection	AD	95.47	8 of 8
*MAT2A*	Thoracic Aortic Aneurysm, Aortic Dissection	–	100	3 of 3
*MED12*	Lujan-Fryns Syndrome, Ohdo Syndrome, Opitz-Kaveggia Syndrome, Blepharophimosis– Intellectual Disability Syndrome, Fg Syndrome	X,XR,G	100	–
*PLOD1*	Ehlers-Danlos Syndrome	AR	100	36 of 36
*SKI*	Shprintzen-Goldberg Syndrome	AD	99.66	39 of 39
*SLC2A10*	Arterial Tortuosity Syndrome	AR	100	35 of 35
*SMAD3*	Loeys-Dietz Syndrome, Aneurysm-Osteoarthritis Syndrome, Thoracic Aortic Aneurysm And Aortic Dissection	AD	100	128 of 128
*SMAD6*	Aortic Valve Disease, Craniosynostosis, Bicuspid Aortic Valve	AD	80.88	64 of 74
*TGFB2*	Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	99.9	41 of 44
*TGFB3*	Arrhythmogenic Right Ventricular Dysplasia, Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	100	34 of 35
*TGFBR1*	Loeys-Dietz Syndrome, Multiple Self-Healing Squamous Epithelioma, Familial Thoracic Aortic Aneurysm And Aortic Dissection	AD	94	96 of 100
*TGFBR2*	Loeys-Dietz Syndrome, Familial Thoracic Aortic Aneurysm And Aortic Dissection, Lynch Syndrome, Squamous Cell Carcinoma Of Esophagus	AD	99.9	165 of 166
*UPF3B*	Intellectual Disability With Marfanoid Habitus	X,XR,G	98.75	–
*VCAN*	Wagner Syndrome	AD	99.91	11 of 21
*ZDHHC9*	Intellectual Disability With Marfanoid Habitus	X,G	100	–

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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