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Epigenetic Signature

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Pathogenic variants, particularly in genes involved in the regulation of epigenetic processes and chromatin structure, can result in a very specific, genome-wide methylation profile that differs significantly from the methylation profile in control cohorts. This specific profile is referred to as an epigenetic signature.

 

When is epigenetic signature analysis useful?

  • if there is a strong suspicion of a (syndromic) developmental disorder, but the exome analysis was inconclusive
  • if there is an unclear sequence variant in a gene for which a specific epigenetic signature is known

 

At MGZ Munich we offer the following epigenetic panels:

  • Syndromes with multiple congenital anomalies (also without ID)
    CHD7, CREBBP, EP300, FANCA, FANCC, FANCD2, FANCG, FANCI, FANCL, KAT6B, KDM6A, KMT2D, POGZ, PQBP1, PRR12, ZNF699
  • Syndromes with epilepsy
    ANKRD11, ATRX, CHD2, HNRNPU, KANSL1, MEF2C, NIPBL, RAD21, SETD1B, SLC32A1, SMC1A, SMC3, TCF4, TET3
  • Syndromes with intellectual disability and behavioural abnormalities or autism spectrum disorder
    ADNP, ARID1A, ARID1B, ARID2, ATRX, BCL11B, BRWD3, CCNK, CDK13, CHD4, CHD8, CREBBP, CTCF, DNMT3A, DYRK1A, EED, EHMT1, EP300, EZH2, FAM50A, H1-4, JARID2, KAT6A, KMT5B, MEF2C, MSL2, NIPBL, NSD1, POGZ, RAD21, SETD1B, SETD2, SETD5, SLC32A1, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SOX11, SRSF1, TCF4, TET3, TRIP12, USP7, YY1
  • Syndromes with macrocephaly / macrosomia / obesity and developmental delay
    BRWD3, CHD4, CHD8, DDB1, DNMT3A, EED, EZH2, FAM50A, H1-4, NSD1, PHF6, PHIP, SETD2, TET3, TRIP12, UBE2A, ZNF711
  • Syndromes with short stature
    ANKRD11, CREBBP, EP300, FAM50A, FANCA, KDM3B, KDM5C, KDM6A, KMT2A, KMT2D, PQBP1, SIN3A, SRCAP
  • Epigenetic signatures – comprehensive testing