IllnessLoeys-Dietz syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Loeys-Dietz syndrome comprising 8 guideline-curated genes and altogether 9 curated genes according to the clinical signs

LP0500

Number of genes

9 Accredited laboratory test

Examined sequence length

20,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
BGN	1107	301870	NM_001711.6	XL
FBN1	8616	134797	NM_000138.5	AD
SKI	2187	164780	NM_003036.4	AD
SMAD2	1404	601366	NM_005901.6	AD
SMAD3	1278	603109	NM_005902.4	AD
TGFB2	1245	190220	NM_003238.6	AD
TGFB3	1239	190230	NM_003239.5	AD
TGFBR1	1512	190181	NM_004612.4	AD
TGFBR2	1704	190182	NM_003242.6	AD

Informations about the disease

Clinical Comment

Connective tissue disorder characterized by a broad spectrum of craniofacial, vascular + skeletal manifestations with 4 genetic subtypes forming clinical continuum

Synonyms

Sympt.: Aortic aneurysm; arterial tortuosity, aneurysms, hypertelorism, bifid uvula/cleft palate
Allelic: Acromicric dysplasia (FBN1)
Allelic: Arrhythmogenic right ventricular dysplasia 1 (TGFB3)
Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
Allelic: Ectopia lentis, familial (FBN1)
Allelic: Esophageal cancer, somatic (TGFBR2)
Allelic: Geleophysic dysplasia 2 (FBN1
Allelic: MASS syndrome (FBN1)
Allelic: Marfan lipodystrophy syndrome (FBN1)
Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
Allelic: Spondyloepimetaphyseal dysplasia, XL (BGN)
Allelic: Stiff skin syndrome (FBN1)
Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
Loeys-Dietz syndrome 1 (TGFBR1)
Loeys-Dietz syndrome 2 (TGFBR2)
Loeys-Dietz syndrome 3 (SMAD3)
Loeys-Dietz syndrome 4 (TGFB2)
Loeys-Dietz syndrome 5 (TGFB3)
Marfan syndrome (FBN1)
Meester-Loeys syndrome (BGN)
Shprintzen-Goldberg syndrome (SKI)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined