©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessWilliams-Beuren syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Williams-Beuren syndrome containing 1 core gene, 9 core candidate genes and altogether 12 curated genes according to the clinical signs

ID
WP6473
Number of genes
12 Accredited laboratory test
Examined sequence length
19,4 kb (Core-/Core-canditate-Genes)
41,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

AFTER EXCLUSION of the 7q11.23 deletion

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BRAF2301NM_004333.6AD
ELN2175NM_000501.4AD
KDM6A4206NM_021140.4XL
KRAS567NM_004985.5AD
MAP2K11182NM_002755.4AD
NRAS570NM_002524.5AD
PTPN111782NM_002834.5AD
RAF11947NM_002880.4AD
RIT1660NM_006912.6AD
SOS14002NM_005633.4AD
KMT2D16614NM_003482.4AD
RAI15721NM_030665.4AD

Informations about the disease

Clinical Comment

Williams-Beuren syndrome (WBS) is a developmental disorder characterized by mild to moderate mental retardation/learning problems, unique personality traits, distinctive facial features and cardiovascular problems. Patients typically have difficulty with visuospatial tasks but have good spoken language, music and learning through repetition. Affected individuals are outgoing, have engaging personalities, and show great interest in others. Attention deficit disorder, anxiety, and phobias are common. Young children have pronounced facial features with a broad forehead, partially swollen eye areas, flat bridge of the nose, full cheeks, small chin, and dental problems. Older children and adults typically have a longer face with a wide mouth and full lips. Stenosis of the supravalvular aorta and narrowing of the pulmonary and coronary arteries are common. Hypertension, hardened blood vessels, and increased risk of anesthesia have been reported. Additional symptoms include joint problems, loose skin and hypercalcemia in infancy, developmental delays, problems with coordination and short stature. Medical problems involving vision or hearing, hyperacusis are frequently associated. Problems with the digestive tract are also possible. Obesity or diabetes can develop in adulthood. WBS is caused by de novo 1.5- to 1.8-Mb 7q11.23 deletions which include mostly >24 genes. Rarely, people with WBS inherit the deletion from an affected parent as an autosomal dominant trait. The ELN, GTF2I, GTF2IRD1 and LIMK1 genes are typically deleted. Presence or absence of the NCF1 gene impacts of developing hypertension. Postnatally the molecular (cyto-)genetic diagnostic yield approaches 100%, especially in typical cases.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1249/

 

Synonyms
  • Nomencl.: Williams s. due to recurrent 7q11.23 contiguous gene deletion of the WBS critical region
  • Alias: Beuren syndrome
  • Alias: Elfin facies syndrome
  • Alias: Elfin facies with hypercalcemia
  • Alias: Hypercalcemia-supravalvar aortic stenosis
  • Alias: Microdeletion 7q11.23, monosomy 7q11.23
  • Alias: WBS, Williams-Beuren syndrome
  • Alias: Williams syndrome
  • Allelic: Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic (KRAS, NRAS)
  • Cardiofaciocutaneous syndrome (BRAF)
  • Cardiofaciocutaneous syndrome 2 (KRAS)
  • Cardiofaciocutaneous syndrome 3 (MAP2K1)
  • Cutis laxa, AD (ELN)
  • Kabuki syndrome 1 (KMT2D)
  • Kabuki syndrome 2 (KDM6A)
  • LEOPARD syndrome 1 (PTPN11)
  • LEOPARD syndrome 2 (RAF1)
  • LEOPARD syndrome 3 (BRAF)
  • Noonan syndrome 1 (PTPN11)
  • Noonan syndrome 3 (KRAS)
  • Noonan syndrome 4 (SOS1)
  • Noonan syndrome 5 (RAF1)
  • Noonan syndrome 6 (NRAS)
  • Noonan syndrome 7 (BRAF)
  • Noonan syndrome 8 (RIT1)
  • Smith-Magenis syndrome (RAI1)
  • Supravalvar aortic stenosis (ELN)
Heredity, heredity patterns etc.
  • AD
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined