Table 1.

Molecular Genetic Testing Used in AIP-FIPA

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
AIP Sequence analysis 3~95% 4, 5
Gene-targeted deletion/duplication analysis 6~5% 7
1.

See Table A. Genes and Databases for chromosome locus and protein.

2.

See Molecular Genetics for information on allelic variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.
5.

One promoter variant has been reported (see Molecular Genetics).

6.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

7.

To date, four individuals/families with exon or multiexon deletions and two families with whole-gene deletions have been identified [Georgitsi et al 2008, Igreja et al 2010, Hernández-Ramírez et al 2015, Marques et al 2020].

From: AIP Familial Isolated Pituitary Adenomas

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