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IllnessNeuropathie, CMT/HMSN, infantil/juvenil; autosomal rezessiv; Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for Neuropathy, CMT/HMSN, infantile / juvenile; autosomal recessive, comprising 45 guideline-curated genes according to the clinical signs

ID
NP7744
Number of genes
44 Accredited laboratory test
Examined sequence length
106,2 kb (Core-/Core-canditate-Genes)
140,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CNTNAP14155NM_003632.3AR
DNAJB2834NM_001039550.2AR
DST17028NM_001723.7AR
ELP13999NM_003640.5AR
GDAP11077NM_018972.4AR, AD
HINT1381NM_005340.7AR
KIF1A5073NM_004321.8AR, AD
LMNA1995NM_170707.4AR
MCM3AP5943NM_003906.5AR
MFN22274NM_014874.4AR, AD
MPV17531NM_002437.5AR
NGF726NM_002506.3AR
PRDM121109NM_021619.3AR
PRX4386NM_181882.3AR
RETREG11494NM_001034850.3AR
SACS13740NM_014363.6AR
SBF15682NM_002972.4AR
SBF25550NM_030962.4AR
SCN9A5934NM_002977.3AR
SCO2801NM_005138.3AR
SH3TC23867NM_024577.4AR, AD
SIGMAR1672NM_005866.4AR
SLC25A461257NM_138773.4AR
SPG117332NM_025137.4AR
SURF1903NM_003172.4AR
TRIM22235NM_001130067.2AR
WNK17149NM_018979.4AR
COX6A1330NM_004373.4AR
CTDP12529NM_004715.5AR
FGD42301NM_139241.3AR
FIG42724NM_014845.6AR, AD
GAN1794NM_022041.4AR
HK12754NM_000188.3AR
IGHMBP22982NM_002180.3AR
KARS11940NM_001130089.2AR
LRSAM12172NM_138361.5AR, AD
MED252244NM_030973.4AR
MME2253NM_007289.4AR, AD
MTMR21932NM_016156.6AR
NDRG11185NM_006096.4AR
NEFL1633NM_006158.5AR, AD
PLEKHG53189NM_020631.6AR
PNKP1566NM_007254.4AR
SORD1074NM_003104.6AR

Informations about the disease

Clinical Comment

Among the hereditary sensory and motor neuropathies (Charcot-Marie-Tooth diseases; CMTs), some CMT2 subtypes, the CMT4 and some intermediate forms are inherited in an autosomal recessive manner. In the German guidelines (currently being revised), 19 entities have been explicitly named so far, which are included in the present gene panel. These CMTs usually show the typical phenotype with progressive, distally accentuated weakness/atrophy of the lower limb muscles followed by the hand muscles, sensory disturbances and characteristic foot abnormalities. CMT may begin in early infancy with hypotonia, often with difficulty walking and skeletal deformities. Sensory signs are usually more mildly expressed than motor signs, with loss of tactile sensation, pain distally in the lower limbs with reduced deep tendon reflexes. Early onset and severe (respiratory) complications worsen the prognosis quoad vitam. The DNA-diagnostic yield is high but not known precisely, especially because of ethnic variation. Therefore, a negative DNA test result does not exclude CMT with certainty.

References: https://www.ncbi.nlm.nih.gov/books/NBK1358/

https://www.awmf.org/uploads/tx_szleitlinien/022-027l_S1_Neuropathien_hereditaer_erworben_Kinder_Jugendliche_Differentialdiagnose.pdf

 

Synonyms
  • Alias: Charcot-Marie-Tooth [CMT] hereditary neuropathy
  • Alias: Hereditary motor + sensory neuropathy [HMSN]
  • Alias: Polyneuropathie
  • Allelic: Amyotrophic lateral sclerosis 11 (FIG4)
  • Allelic: Amyotrophic lateral sclerosis 16, juvenile (SIGMAR1)
  • Allelic: Amyotrophic lateral sclerosis 5, juvenile (SPG11)
  • Allelic: Ataxia-oculomotor apraxia 4 (PNKP)
  • Allelic: Combined oxidative phosphorylation deficiency 7 (C12orf65)
  • Allelic: Combined oxidative phosphorylation deficiency 7 (MTRFR)
  • Allelic: Deafness, AR 89 (KARS1)
  • Allelic: Epidermolysis bullosa simplex, AR 2 (DST)
  • Allelic: Hemolytic anemia due to hexokinase deficiency (HK1)
  • Allelic: Leigh syndrome, due to COX IV deficiency (SURF1)
  • Allelic: Lethal congenital contracture syndrome 7 (CNTNAP1)
  • Allelic: Medulloblastoma (ELP1)
  • Allelic: Microcephaly, seizures, developmental delay (PNKP)
  • Allelic: Mitochondrial DNA depletion syndrome 6, hepatocerebral type (MPV17)
  • Allelic: Myopia 6 (SCO2)
  • Allelic: Neurodevelopmental disorder with visual defects + brain anomalies (HK1)
  • Allelic: Polymicrogyria, bilateral temporooccipital (FIG4)
  • Allelic: Pontocerebellar hypoplasia, type 1 (SLC25A46)
  • Allelic: Pseudohypoaldosteronism, type IIC (WNK1)
  • Allelic: Retinitis pigmentosa 79 (HK1)
  • Allelic: Spastic paraplegia 55, ÁR (MTRFR)
  • Allelic: Yunis-Varon syndrome (FIG4)
  • Basel-Vanagait-Smirin-Yosef syndrome (MED25)
  • Charcot-Marie-Tooth disease, DI G (NEFL)
  • Charcot-Marie-Tooth disease, RI A (GDAP1)
  • Charcot-Marie-Tooth disease, RI B (KARS1)
  • Charcot-Marie-Tooth disease, RI C (PLEKHG5)
  • Charcot-Marie-Tooth disease, RI D (COX6A1)
  • Charcot-Marie-Tooth disease, axonal, type 2A2A (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2A2B (MFN2)
  • Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
  • Charcot-Marie-Tooth disease, axonal, type 2K (GDAP1)
  • Charcot-Marie-Tooth disease, axonal, type 2P (LRSAM1)
  • Charcot-Marie-Tooth disease, axonal, type 2S (IGHMBP2)
  • Charcot-Marie-Tooth disease, axonal, type 2T (MME)
  • Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
  • Charcot-Marie-Tooth disease, axonal, with vocal cord paresis (GDAP1)
  • Charcot-Marie-Tooth disease, type 1F (NEFL)
  • Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Charcot-Marie-Tooth disease, type 2B2 (PNKP)
  • Charcot-Marie-Tooth disease, type 2E (NEFL)
  • Charcot-Marie-Tooth disease, type 2R (TRIM2)
  • Charcot-Marie-Tooth disease, type 4A (GDAP1)
  • Charcot-Marie-Tooth disease, type 4B1 (MTMR2)
  • Charcot-Marie-Tooth disease, type 4B2 (SBF2)
  • Charcot-Marie-Tooth disease, type 4B3 (SBF1)
  • Charcot-Marie-Tooth disease, type 4C (SH3TC2)
  • Charcot-Marie-Tooth disease, type 4D (NDRG1)
  • Charcot-Marie-Tooth disease, type 4F (PRX)
  • Charcot-Marie-Tooth disease, type 4H (FGD4)
  • Charcot-Marie-Tooth disease, type 4J (FIG4)
  • Charcot-Marie-Tooth disease, type 4K (SURF1)
  • Congenital cataracts, facial dysmorphism + neuropathy (CTDP1)
  • Dejerine-Sottas disease (EGR2, PRX)
  • Dysautonomia, familial (ELP1)
  • Erythermalgia, primary (SCN9A)
  • Giant axonal neuropathy-1 (GAN)
  • Hereditary neuropathy [panelapp] (MTRFR)
  • Hypomyelinating neuropathy, congenital, 1 (EGR2)
  • Hypomyelinating neuropathy, congenital, 3 (CNTNAP1)
  • Insensitivity to pain, congenital (SCN9A)
  • Mitochondrial complex IV deficiency, nuclear type 2 (SCO2)
  • Mononeuropathy of the median nerve, mild (SH3TC2)
  • NESCAV syndrome [NEurodeg., Spasticity +/- Cereb. Atrophy/cortical Visual impairment] (KIF1A)
  • Neuromyotonia + axonal neuropathy, AR (HINT1)
  • Neuronopathy, distal hereditary motor, type VI (IGHMBP2)
  • Neuropathy, hereditary motor + sensory, Russe type (HK1)
  • Neuropathy, hereditary motor + sensory, type VIA (MFN2)
  • Neuropathy, hereditary motor + sensory, type VIB (SLC25A46)
  • Neuropathy, hereditary sensory + autonomic, type II (WNK1)
  • Neuropathy, hereditary sensory + autonomic, type IIB (RETREG1)
  • Neuropathy, hereditary sensory + autonomic, type IID (SCN9A)
  • Neuropathy, hereditary sensory + autonomic, type V (NGF)
  • Neuropathy, hereditary sensory + autonomic, type VI (DST)
  • Neuropathy, hereditary sensory + autonomic, type VIII (PRDM12)
  • Neuropathy, hereditary sensory, type IIC (KIF1A)
  • Paroxysmal extreme pain disorder (SCN9A)
  • Peripheral neuropathy, AR, +/- impaired intellectual development (MCM3AP)
  • Small fiber neuropathy (SCN9A)
  • Sorbitol dehydrogenase deficiency with peripheral neuropathy (SORD)
  • Spastic ataxia, Charlevoix-Saguenay type (SACS)
  • Spastic paraplegia 11, AR (SPG11)
  • Spastic paraplegia 30, AD (KIF1A)
  • Spastic paraplegia 55, AR (C12orf65)
  • Spinal muscular atrophy, distal, AR, 2 (SIGMAR1)
  • Spinal muscular atrophy, distal, AR, 4 (PLEKHG5)
  • Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
  • Spinocerebellar ataxia 43 (MME)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined

Laboratory requirement

  • Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.

  • Für die Anforderung einer genetischen Untersuchung senden Sie uns bitte die Krankheits-ID auf einem Überweisungsschein. Bitte die Material-Angabe beachten.

  • Für privat versicherte Patienten empfehlen wir einen Antrag auf Kostenübernahme bei der Krankenversicherung.

  • Die Untersuchung wird auch für Selbstzahler angeboten.