Table 2

Novel AIP mutations not previously reported. gnomAD: http://gnomad.broadinstitute.org/

AIP mutationMAF in gnomADVariant typeIn silico prediction*Probability scoreGenderFamilial versus simplexDiagnosisAge at diagnosisAge at onset
c.240_241delinsTG (p.M80_R81delinsIG)Not reportedInsertion deletionHighDisease causing 1MSimplexGigantism85
c.333delC
(p.K112Rfs*44)
Not reportedFrameshiftHighDisease causing 1FSimplexGigantism97
c.376_377delCA (p.Q126Dfs*3)Not reportedFrameshiftHighDisease causing 1FSimplexGigantism1310
c.605A>G
(p.Y202C) §
Not reportedMissenseHighDisease causing 0.99MSimplexGigantism1010
c.645+1G>C
(p.?)
Not reportedSplicingHighDisease causing 1MSimplexAcromegaly3324
c.991T>C
(p.331Rext91)
Not reportedMissenseHighPolymorphism 0.99MSimplexGigantism1612
  • *In silico prediction of probability of damaging mutation by Variant Effect Predictor and Anovar.

  • †Probability of pathogenic mutation by Mutation Taster.

  • ‡All patients had macroadenoma, and none of them presented with pituitary apoplexy.

  • §This missense variant affects position 22 in the first tetratricopeptide domain of AIP, a well-conserved position in various tetratricopeptide domain proteins.32 38

  • AIP, aryl hydrocarbon receptor-interacting protein; MAF, minor allele frequency.