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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessWolfram syndrome 1 + 2; differential diagnosis

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Summary

Short information

Two curated core gene and altogether 19 curated DNA sequence analyses according to the clinical suspicion Wolfram syndrome 1 + 2

ID
WP0220
Number of genes
3 Accredited laboratory test
Examined sequence length
3,1 kb (Core-/Core-canditate-Genes)
3,8 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-GReferenz-Seq.Heredity
CISD2408NM_001008388.5AR
WFS12673NM_006005.3AR, AD
FXN633NM_000144.5AR

Informations about the disease

Clinical Comment

Wolfram syndrome (WFS) spectrum represents progressive neurodegenerative diseases characterized by onset of diabetes mellitus and optic atrophy before age 16, typically associated with other endocrine abnormalities, sensorineural hearing loss, progressive neurologic abnormalities (cerebellar ataxia, peripheral neuropathy, dementia etc.). Sensorineural hearing impairment ranges from congenital deafness to milder, sometimes progressive, hearing impairment. Like WFS1 (acronym DIDMOAD), WFS2 is an AR disorder caused by pathogenic variants in CISD2. WFS2 is a continuum of clinical features (juvenile-onset diabetes mellitus, optic atrophy, high-frequency sensorineural hearing impairment, urinary tract dilatation, impaired renal function, hypogonadism, severe gastrointestinal ulcer, bleeding). The diagnostic yield for WFS is less than 100% but not precisely quantified. In addition, there are rare, dominant, severe types of WFS.

(Basic diagnostic genes: WFS1, CISD2; additional genes: -).

Referenz: https://www.ncbi.nlm.nih.gov/books/NBK4144/

 

Synonyms
  • Sympt.: Diabetes Insipidus + Diabetes mellitus + Optic Atrophy + Deafness [DIDMOAD]
  • Allelic: Charcot-Marie-Tooth disease, XLR, 5 (PRPS1)
  • Allelic: Deafness, XL 1 (PRPS1)Gout, PRPS-related (PRPS1)
  • Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
  • Allelic: Optic atrophy 1 (OPA1)
  • Allelic: Retinitis pigmentosa 51 (TTC8)
  • Alstrom syndrome (ALMS1)
  • Arts syndrome (PRPS1)
  • Bardet-Biedl syndrome (BBS1, -2, -4, -7, -9, -10, -12)
  • Bardet-Biedl syndrome 13 (MKS1)
  • Bardet-Biedl syndrome 6 (MKKS)
  • Bardet-Biedl syndrome 8 (TTC8)
  • Behr syndrome (OPA1)
  • Cataract 41 (WFS1)
  • Deafness, AD 6/14/38 (WFS1)
  • Friedreich ataxia (FXN)
  • Friedreich ataxia with retained reflexes (FXN)
  • Joubert syndrome 28 (MKS1)
  • McKusick-Kaufman syndrome (MKKS)
  • Meckel syndrome 1 (MKS1)
  • Mitochondrial DNA depletion syndrome 14, encephalocardiomyopathic type (OPA1)
  • Mohr-Tranebjaerg syndrome (TIMM8A)
  • Myotonic dystrophy 1 (DMPK)
  • Optic atrophy plus syndrome (OPA1)
  • Phosphoribosylpyrophosphate synthetase superactivity (PRPS1)
  • Thiamine-responsive megaloblastic anemia syndrome (SLC19A2)
  • Wolfram syndrome 1(WFS1)
  • Wolfram syndrome 2 (CISD2)
  • Wolfram-like syndrome, AD (WFS1)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined