Overgrowth of prenatal onset associated with submicroscopic 9q22.3 deletion.

摘要

Haploinsufficiency of the PTCH1 gene at 9q22.3 leads to Gorlin syndrome. The characteristic features of Gorlin syndrome include relative macrocephaly, multiple basal cell carcinoma, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, and calcification of the falx cerebri [Kimonis et al., 1997]. Recently, Redon et al. [2006] reported two patients with comparable 6.5-Mb long submicroscopic deletions spanning the PTCH1 gene who exhibited overgrowth; they suggested the existence of a gene whose haploinsufficiency contributes to prenatal overgrowth. Furthermore, Shimojima et al. [2009] reported a patient with a 2.3-Mb deletion spanning PTCH1 who exhibited overgrowth. Since the 2.3-Mb deleted interval was completely included within the 6.5-Mb deleted interval denned by Rendon et al., the putative gene whose haploinsufficiency leads to overgrowth should reside within the 2.3-Mb interval. Here, we report on a patient with overgrowth and a 2.4-Mb deletion, of which 1.4 Mb (94,882,075-97,322,234) overlapped the deleted region reported by Shimojima et al. Our observation further narrows the critical interval where the putative growth suppressor gene is likely to reside.