ClinGen Dosage Sensitivity Curation Page

MAFB

  • Curation Status: Complete

Location Information

Select assembly: (NC_000020.10) (NC_000020.11)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

At this time, there are no data to support the haploinsufficiency of MAFB. Heterozygous missense mutations in MAFB have been associated with multicentric carpotarsal osteolysis syndrome (MCTO, OMIM 166300) (Zankl et al 2012, PMID 22387013). There also has been a report of a patient with ataxia, cleft lip/palate, and intellectual and developmental disabilities (IDD) who had a variant in MAFB identified in a whole exome study of patients with IDD. (Sundaram et al 2014, PMID 24321989) This is suggested to be significant by that author because a previous GWAS study of non-syndromic cleft lip/palate patients suggested a significant association with MAFB. However, there are no reported functional studies that demonstrate that these mutations result in MAFB loss-of-function and whole gene deletions have not been reported.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity