Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization

抄録

Sotos syndrome (SoS, OMIM #117550) is an autosomal dominant overgrowth syndrome with pre- and postnatal excessive growth, characteristic craniofacial features, and variable degrees of developmental delay. Haploinsufficiency of the nuclear receptor binding SET domain containing protein 1 (NSD1) gene causes SoS, as two thirds of SoS patients had either a whole-gene microdeletion or an intragenic point mutation. However, the etiology of other patients remains undetermined. In the present study, we analyzed 30 Japanese SoS patients on whether they have NSD1 intragenic deletions by NSD1-specific exon microarray comparative genomic hybridization (array CGH). Although the analysis suggested a deletion at the 5' region of NSD1 in 16 of the 30 patients, no such abnormalities were confirmed by subsequent quantitative fluorescent duplex PCR and fluorescence in situ hybridization. As no intragenic deletions have been identified in our series of SoS patients, other genetic aberrations need to be identified.