ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000017.10) (NC_000017.11)

Haploinsufficiency phenotype comments:

Kitsiou-Tzeli et al. (2012) report a de novo 248kb deletion involving a portion of MAPT and KIAA1267 in a patient with ASD and no speech. The patient also had a maternally inherited 168kb deletion of chrX including PCDH11X. (PMID: 22037486). The involvement of KIAA1267(KANSL1) is noteworthy in light of a recent paper (PMID:22544367) associating haploinsufficiency of KANSL1, and not MAPT, with the 17q21.31 microdeletion synrdome. Rare mutations in the gene encoding for tau (MAPT) have been associated with frontotemporal dementia-spectrum disorders (MIM:600274). PMID:19263483: A heterozygous genomic deletion removing exons 6 to 9 of the microtubule associated protein tau (MAPT) gene, predicting to result into a truncated protein lacking the first microtubule binding domain, was detected in a patient with frontotemporal dementia (FTD).

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