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FSHD4

Chr 20Digenic dominant

DNA methyltransferase 3 beta

Also known as: FSHD4, ICF, ICF1, M.HsaIIIB

NCBI Gene: 1789 OMIM: 619478

This gene encodes a DNA methyltransferase that performs de novo methylation during embryonic development, with nuclear localization and developmentally regulated expression. Mutations cause facioscapulohumeral muscular dystrophy 4, a muscle disorder affecting facial, shoulder, and upper arm muscles. The condition follows digenic dominant inheritance, requiring mutations in two different genes for disease manifestation.

OMIM ResearchSummary from RefSeq, OMIM

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase which is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes primarily to the nucleus and its expression is developmentally regulated. Mutations in this gene cause the immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome. Eight alternatively spliced transcript variants have been described. The full length sequences of variants 4 and 5 have not been determined. [provided by RefSeq, May 2011]

OMIM ResearchGenerating clinical summary…