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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessBohring-Opitz syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Bohring-Opitz syndrome containing 1 core gene and altogether 10 curated genes according to the clinical signs

ID
AP0450
Number of genes
10 Accredited laboratory test
Examined sequence length
4,7 kb (Core-/Core-canditate-Genes)
38,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ASXL14626NM_015338.6AD
ASXL24366NM_018263.6AD
ASXL36747NM_030632.3AD
CD961710NM_198196.3AD
HDAC81134NM_018486.3XL
KLHL71761NM_001031710.3AR
NIPBL8415NM_133433.4AD
RAD211896NM_006265.3AD
SMC1A3702NM_006306.4XL
SMC33654NM_005445.4AD

Informations about the disease

Clinical Comment

Intrauterine growth retardation, failure to thrive, facial dysmorphism (prominent metopic suture, forehead nevus flammeus, low frontal + temporal hairline, hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip + palate, retrognathia, low set ears), flexion deformities of elbows + wrists, camptodactyly, ulnar deviation of fingers, foot anomalies + severe developmental delay. Mostly sporadically.

 

Synonyms
  • Sympt.: Flexion of elbows + wrists, deviation of wrists + metacarpophalangeal joints
  • Sympt.: Intrauterine growth retardation, poor feeding, profound mental retardation, trigonocephaly
  • Sympt.: Prominent metopic suture, exophth., naevus flamm., upslanting palpebral fissures, hirsutism
  • Alias: C-like syndrome (ASXL1)
  • Alias: Opitz trigonocephaly-like syndrome (ASXL1)
  • Allelic: Mungan syndrome (RAD21)
  • Allelic: Myelodysplastic syndrome, somatic (ASXL1)
  • Allelic: Retinitis pigmentosa 42 (KLHL7)
  • Bainbridge-Ropers syndrome (ASXL3)
  • Bohring-Opitz syndrome (ASXL1)
  • C syndrome (CD96)
  • Cornelia de Lange syndrome 1 (NIPBL)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Cornelia de Lange syndrome 3 (SMC3)
  • Cornelia de Lange syndrome 4 (RAD21)
  • Cornelia de Lange syndrome 5 (HDAC8)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • PERCHING syndrome [Crisponi/cold-induced sweating syndrome] (KLHL7)
  • Shashi-Pena syndrome (ASXL2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined