Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome.

ABSTRACT: Noonan syndrome (NS) is a genetically heterogeneous disorder caused most commonly by activating mutations in PTPN11. We report a patient with hypotonia, developmental delay and clinical features suggestive of NS. High-resolution chromosome analysis was normal, and sequence analyses of PTPN11, SOS1, KRAS, BRAF, RAF1, MEK, and MEK2 were also normal. Array CGH revealed a single copy gain of 9 BAC clones at 12q24.11q24.21 (8.98 Mb in size), which encompassed the PTPN11 locus at 12q24.13 and was confirmed by FISH analysis. Shchelochkov et al. [Shchelochkov et al. (2008); Am J Med Genet Part A 146A:1042-1048] reported a similar case and speculated that such duplications might account for 15-30% of NS cases with no detectable mutation in NS genes. We screened more than 250 NS cases without mutati

SUBMITTER: Graham JM 

PROVIDER: S-EPMC2768228 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature