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

IllnessWalker-Warburg syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Walker-Warburg syndrome comprising 12guideline-curated genes and altogether 15 curated genes according to the clinical signs

ID
WP0150
Number of genes
15 Accredited laboratory test
Examined sequence length
23,8 kb (Core-/Core-canditate-Genes)
28,8 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
B3GALNT21503AR
B4GAT11248AR
CRPPA1356AR
DAG12688AR
FKRP1488AR
FKTN1386AR
GMPPB1164AR
LARGE12271AR
POMGNT11983AR
POMGNT21743AR
POMK1053AR
POMT12244AR
POMT22253AR
RXYLT11355AR
COL4A15010AD, Mult

Informations about the disease

Clinical Comment

Walker-Warburg syndrome affects the development of the muscles, brain and eyes. It is the most severe of the congenital muscular dystrophies with muscle hypotonia, weakness usually immediately after birth or in infancy, and later atrophy. Most affected individuals also have cobblestone lissencephaly as well as hydrocephalus and do not survive past the age of three years. Ocular abnormalities are also characteristic, including microphthalmia or buphthalmos, cataracts and retinal dysplasia. Mutations in genes associated with Walker-Warburg syndrome prevent glycosylation of α-dystroglycan. These so-called dystroglycanopathies are virtually always inherited in an autosomal recessive manner. Currently, definitive and reliable molecular genetic diagnoses are achieved in at least 40-60% of patients, depending on previous clinical findings. Clinical diagnosis cannot be excluded by a negative molecular genetic result.

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

https://www.ncbi.nlm.nih.gov/books/NBK97333/

 

Synonyms
  • Alias: Congenital muscular dystrophy-dystroglycanopathy with brain + eye anomalies
  • Alias: Dystroglycanopathy
  • Alias: HARD syndrome [Hydrocephalus, Agyria, Retinal Dysplasia, with/-out Encephalocele]
  • Alias: MEB [Muscle Eye Brain disease]
  • Allelic: Angiopathy, hereditary, with nephropathy, aneurysms + muscle cramps (COL4A1)
  • Allelic: Brain small vessel disease with/-out ocular anomalies (COL4A1)
  • Allelic: Cardiomyopathy, dilated, 1X (FKTN)
  • Allelic: Microangiopathy + leukoencephalopathy, pontine, AD (COL4A1)
  • 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, cong. with brain + eye anomalies, type A, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 10 (RXYLT1/TMEM5)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 11 (B3GALNT2)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 12 (POMK)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 13 (B4GAT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 7 (CRPPA)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 8 (POMGNT2)
  • Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 1 (POMT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 2 (POMT2)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 3 (POMGNT1)
  • Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 6 (LARGE1)
  • Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
  • Muscular dystrophy-dystroglycanopathy, cong. without mental retardation, type B, 4 (FKTN)
  • Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 7 (ISPD)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Mult
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q87.-

Bioinformatics and clinical interpretation

No text defined