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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessKBG syndrome, differential diagnosis II

Summary

Short information

Comprehensive differential diagnostic panel for KBG syndrome comprising altogether 12 curated genes according to the clinical signs

ID
KP1321
Number of genes
12 Accredited laboratory test
Examined sequence length
8,0 kb (Core-/Core-canditate-Genes)
45,1 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-GHeredity
ANKRD117992AD
CDKN1C951AD
FGD12886XLR
HDAC81134XLD
HMGA2330AD
IGF2543AD
NIPBL8415AD
PLAG11503AD
RAD211896AD, AR
SMC1A3702XLD
SMC33654AD
VPS13B12069AR

Informations about the disease

Clinical Comment

KBG syndrome affects multiple body systems. Abnormal facial features include macrodontia, brachycephaly, triangular face, hypertelorism, synophris, long philtrum and thin upper lip. Skeletal anomalies concern delayed bone age and often brachydactyly. The slow physical and mental development is accompanied by hyperactivity or autism spectrum disorder including mental retardation. Less common are hearing loss, seizures and heart defects. KBG syndrome is inherited in an autosomal dominant manner, but 2/3 of the mutations occur de novo, with deletions and insertions diagnosed as causative in nearly 30% of cases. The proportion of patients with clinical KBG findings without detectable ANKRD11 gene mutation is unknown. Therefore, a negative molecular genetic result does not represent exclusion of the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK487886/

 

Synonyms
  • Sympt.: Macrodontia, mental retard., charact. facies, short stature, skeletal anomalies
  • Allelic: Mungan syndrome (RAD21)
  • Aarskog-Scott syndrome (FGD1)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • Cohen syndrome (VPS13B)
  • 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)
  • IMAGE syndrome (CDKN1C)
  • KBG syndrome (ANKRD11)
  • Mental retardation, XL syndromic 16 (FGD1)
  • Silver-Russell syndrome 3 (IGF2)
  • Silver-Russell syndrome 4 (PLAG1)
  • Silver-Russell syndrome 5 (HMGA2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
F84.-

Bioinformatics and clinical interpretation

No text defined