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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessMuscle-eye-brain disease, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Muscle-eye-brain disease comprising 14 guideline-curated genes according to the clinical signs

ID
MP6491
Number of genes
14 Accredited laboratory test
Examined sequence length
23,8 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-GHeredity
B3GALNT21503AR
B4GAT11248AR
CRPPA1356AR
DAG12688AR
FKRP1488AR
FKTN1386AR
GMPPB1164AR
LARGE12271AR
POMGNT11983AR
POMGNT21743AR
POMK1053AR
POMT12244AR
POMT22253AR
RXYLT11355AR

Informations about the disease

Clinical Comment

Congenital muscular dystrophy dystroglycanopathies with brain and eye abnormalities, type A, include the most severe course, Walker-Warburg syndrome, Fukuyama disease and the somewhat less severe muscle-eye-brain diseases (MEB), all of which are characterized by brain and eye malformations, marked mental retardation, congenital muscular dystrophy and often early death. MEBs have a phenotypic spectrum of approximately 14 quite similar disorders due to defective glycosylation of DAG1, and they are also grouped under the term dystroglycanopathies. Allelic disorders are referred to as muscular dystrophy dystroglycanopathy, congenital with mental retardation, type B, and/or muscular dystrophy dystroglycanopathy, limb girdle, type C. Walker-Warburg patients typically develop cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia, microphthalmia, buphthalmos, cataract and visual disturbances. Developmental delays are common in all forms of MEB, seizures are observed in 2/3 of cases, while slowly progressive cardiac involvement appears less pronounced in MEB than in Duchenne muscular dystrophy. Inheritance is autosomal recessive in all forms. The DNA diagnostic yield is up to 66% and more. Thus, a negative molecular genetic result does not exclude the clinical diagnosis with certainty.

References: https://www.ncbi.nlm.nih.gov/books/NBK1206/

https://www.aanem.org/getmedia/7b0620b5-c44f-48ad-9261-cc1b6a091757/CMD-complete-guideline-for-online-publication-(2).pdf

 

Synonyms
  • Alias: Fukuyama congenital muscular dystrophy (FKTN)
  • Alias: Muscle-eye-brain syndrome
  • Alias: Muscular dystrophy-dystroglycanopathy, congenital with brain, eye anomalies
  • Alias: Santavuori congenital muscular dystrophy (POMGNT1)
  • Alias: Walker-Warburg syndrome (POMT1)
  • Allelic: Cardiomyopathy, dilated, 1X (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 14 (GMPPB)
  • Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 2 (POMT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy, congen. with mental retard., type B, 6 (LARGE1)
  • Allelic: Muscular dystrophy-dystroglycanopathy, congen. with/-out mental retard., type B, 5 (FKRP)
  • Allelic: Muscular dystrophy-dystroglycanopathy, congen. without mental retard., type B, 4 (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 1 (POMT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 12 (POMK)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 14 (GMPPB)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 2 (POMT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 3 (POMGNT1)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4 (FKTN)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 5 (FKRP)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 7 (CRPPA)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 8 (POMGNT2)
  • Allelic: Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 9 (DAG1)
  • Allelic: Retinitis pigmentosa 76 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 10 (TMEM5)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 11 (B3GALNT2)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 12 (POMK)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 13 (B4GAT1)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 7 (CRPPA)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 8 (POMGNT2)
  • Muscular dystrophy-dystroglycanopathy, congenital with brain + eye anomalies, type A, 9 (DAG1)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G71.0

Bioinformatics and clinical interpretation

No text defined