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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessDéjerine-Sottas syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Dejerine-Sottas syndrome comprising 4 or 5 curated genes, respectively, according to the clinical signs

ID
PP0980
Number of genes
5 Accredited laboratory test
Examined sequence length
8,9 kb (Core-/Core-canditate-Genes)
- (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
DCAF81794NM_015726.4AD
EGR21431NM_000399.5AD, AR
MPZ747NM_000530.8AD, AR
PMP22483NM_000304.4AD, AR
PRX4386NM_181882.3AR, AD

Informations about the disease

Clinical Comment

Severe CMT phenotype with onset in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (<10-12 m/s), areflexia + foot deformity

 

Synonyms
  • Alias: CMT3
  • Alias: Dejerine-Sottas syndrome, DSS
  • Alias: HSMNIII
  • Alias: Hypertrophic neuropathy of Dejerine-Sottas
  • Alias: Severe childhood-onset genetic neuropathies of any inheritance
  • Allelic: Charcot-Marie-Tooth disease, dominant intermediate D (MPZ)
  • Allelic: Charcot-Marie-Tooth disease, type 1A
  • Allelic: Charcot-Marie-Tooth disease, type 1D (EGR2)
  • Allelic: Charcot-Marie-Tooth disease, type 1E (PMP22)
  • Allelic: Charcot-Marie-Tooth disease, type 2I (MPZ)
  • Allelic: Charcot-Marie-Tooth disease, type 2I, 2J (MPZ)
  • Allelic: Charcot-Marie-Tooth disease, type 4F (PRX)
  • Allelic: Hypomyelinating neuropathy, congenital, 1 (EGR2)
  • Allelic: Hypomyelinating neuropathy, congenital, 2 (MPZ)
  • Allelic: Neuropathy, recurrent, with pressure palsies (PMP22)
  • Allelic: Roussy-Levy syndrome (MPZ, PMP22)
  • Charcot-Marie-Tooth disease type 3; CMT3
  • Giant axonal neuropathy 2, AD (DCAF8)
  • Hereditary motor and sensory neuropathy type III; HMSNIII
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G60.0

Bioinformatics and clinical interpretation

No text defined