ClinGen Dosage Sensitivity Curation Page

EXT2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000011.9) (NC_000011.10)
Evidence for haploinsufficiency phenotype
PubMed ID Description
29529714 In 2018, Santos et al. used Sanger sequencing and Multiplex ligation-dependent probe amplification (MLPA) on 153 Brazilian patients in 114 families with multiple osteochondromas (MO) to identify variants in EXT1 and EXT2. The authors identified variants in EXT2 in 53 of the 114 unrelated individuals with MO. 17 of these variants were unique. Of these variants, 6 were frameshifts, 1 was a missense variant, 3 were nonsense, 6 were splice site variants, and 1 was a large deletion.
30334991 In 2018, Li et al. used Sanger sequencing and Multiplex ligation-dependent probe amplification (MLPA) on unrelated individuals from 73 families with hereditary multiple osteochondroma (HMO) to identify variants in EXT1 and EXT2. Analysis identified 25 unique variants in EXT2 in 29 families. Of these, 4 were frameshifts, 13 were nonsense variants, 4 were splice site variants, and 1 was a large deletion.
28690282 In 2017, Guo et al. used targeted next-generation sequencing (t-NGS) and Sanger sequencing on 10 patients with multiple osteochondromas (MO) to identify potential variants in EXT1 and EXT2. The authors identified 3 variants in EXT2. Of these, 1 was a splice site variant and 2 were nonsense variants.

Haploinsufficiency phenotype comments:

Many types of heterozygous loss of function variants (nonsense, frameshift, splice site, and deletions) have been reported in individuals with Hereditary Multiple Osteochondromas (aka Hereditary Multiple Exostoses). See GeneReviews.

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