Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS
J. Clin. Invest. Murat Bastepe, et al. 112:1255 doi:10.1172/JCI19159 [Go to this article.]

Figure 2
The AD-PHP-Ib critical interval. The AD-PHP-Ib genetic interval was determined by recombination events in kindreds W (centromeric [cen]) and F (telomeric [tel]). Boundary markers are underlined; microsatellites are in is. While the distance between 907-Rep2 and 806M20-119516 is about 300 kb, the region between 806M20-98760 and 806M20-119516 has been previously excluded through direct sequence analysis (23). Thus, the critical interval comprises approximately 280 kb. Note that 261P9-CA1 is a dinucleotide repeat located within intron 6 of STX16. Known and predicted genes within the linked interval are depicted as filled or open boxes, respectively (note that individual exons are not shown). For GNAS, exons are shown with black (sense) and gray (antisense) boxes (N, exon NESP55; A, exons encoding an antisense transcript; X, exon XL; A/B, exon A/B; 1–13, exons encoding Gsα). MGC4294 (National Center for Biotechnology Information locus ID: 79160) and NPEPL1 (locus ID: 79716) are predicted genes. Note that the centromeric boundary of the AD-PHP-Ib locus was previously defined at D20S149 (22, 23). However, the daughter of W-II/9 in kindred W (23) was shown to have a loss of exon A/B methylation, making the recombination event in W-II/9 informative, which redefined the centromeric boundary at 907-Rep2.