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

Thirty-three affected individuals have been described to date. Not all 33 were tested using both techniques; the authors have calculated the number of probands whose duplication would have been identified using both techniques.

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

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.

These methods will detect from single-exon to whole-gene deletions or duplications; however, breakpoints of large deletions/duplications and/or deletion/duplication of adjacent genes may not be detected by these methods. (Note: GPR101 has a single coding exon).

Trivellin et al [2014], Beckers et al [2015], Daly et al [2016a], Daly et al [2016b], Naves et al [2016], Gordon et al [2016], Iacovazzo et al [2016], Rodd et al [2016], Beckers et al [2017]. Note: The 26 individuals tested using both gene-targeted duplication analysis and standard CMA are represented in both rows of the table.

In one male with somatic mosaicism, the duplication was not detected in leukocyte DNA but was detected in other tissues, including the pituitary [Rodd et al 2016].

In two individuals, standard CMA did not identify the duplication (because of either its small size or low-level mosaicism) [Iacovazzo et al 2016]. The duplications in these individuals were correctly identified using targeted CMA with higher density of probes in the Xq26.3 region.