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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessMikrozephalie mit Lissenzephalie [dicker Kortex], Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for Microcephaly + lissencephaly (thick cortex) comprising 9 guideline-curated and altogether 10 curated genes according to the clinical signs

ID
MP1225
Number of genes
10 Accredited laboratory test
Examined sequence length
25,5 kb (Core-/Core-canditate-Genes)
27,5 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
ACTB1128NM_001101.5AD
ACTG11128NM_001614.5AD
DCX1083NM_178153.3XL
DYNC1H113941NM_001376.5AD
KIF5C2874NM_004522.3AD
PAFAH1B11233NM_000430.4AD
TUBA1A1356NM_006009.4AD
TUBB2B1338NM_178012.5AD
TUBG11356NM_001070.5AD
KATNB11968NM_005886.3AR

Informations about the disease

Clinical Comment

Lissencephaly (TUBA1A mutation): congenital cortical development anomaly due to abnormal neuronal migration involving neocortical + hippocampal lamination, corpus callosum, cerebellum, brainstem. A large clinical spectrum from severe epilepsy, intellectual + motor deficit to severe cerebral dysgenesis antenatally (pregnancy termination due to infaust prognosis)

 

Synonyms
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
  • Allelic: Deafness, autosomal dominant 20/26 (ACTG1)
  • Allelic: Dystonia, juvenile-onset (ACTB)
  • Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
  • Allelic: Subcortical laminal heterotopia, X-linked (DCX)
  • Baraitser-Winter syndrome 1 (ACTB)
  • Baraitser-Winter syndrome 2 (ACTG1)
  • Cortical dysplasia, complex, with other brain malformations 2 (KIF5C)
  • Cortical dysplasia, complex, with other brain malformations 4 (TUBG1)
  • Cortical dysplasia, complex, with other brain malformations 7 (TUBB2B)
  • Lissencephaly 3 (TUBA1A)
  • Lissencephaly 6, with microcephaly (KATNB1)
  • Lissencephaly, XL (DCX)
  • Mental retardation, autosomal dominant 13 (DYNC1H1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q02

Bioinformatics and clinical interpretation

No text defined