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GTR Home > Tests > TGFB2 - NGS including CNV analysis

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from GeneReviews

Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Arachnodactyly
  • Ptosis
  • Clubfoot
  • Cutis laxa
  • Ectopia lentis
  • Pes planus
  • Inguinal hernia
  • Hypertelorism
  • Mitral valve prolapse
  • Pneumothorax
  • Emphysema
  • Retrognathia
  • Scoliosis
  • Spondylolisthesis
  • Torticollis
  • Varicose disease
  • Bicuspid aortic valve
  • Chronic pain
  • Striae distensae
  • Dolichocephaly
  • High palate
  • Hyperextensible skin
  • Tall stature
  • Aortic dissection
  • Cornea plana
  • Protrusio acetabuli
  • Downslanted palpebral fissures
  • Deeply set eye
  • Bruising susceptibility
  • Perineural cyst
  • Ascending tubular aorta aneurysm
  • Aortic root aneurysm
  • High, narrow palate
  • Soft skin
  • Joint hypermobility
  • Dural ectasia
  • Malar flattening
  • Abnormal sternum morphology
  • Arterial tortuosity
  • Recurrent thrombophlebitis
  • Broad uvula
  • Aortic tortuosity
  • Dilatation of the cerebral artery
  • Bifid uvula
  • Eosinophilic infiltration of the esophagus
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Inheritance pattern

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Autosomal dominant inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.

Citations

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Clinical utility

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Not provided

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