Andra Ion

TL;DR: It is shown that missense mutations in PTPN11—a gene encoding the nonreceptor protein tyrosine phosphatase SHP-2, which contains two Src homology 2 (SH2) domains—cause Noonan syndrome and account for more than 50% of the cases that were examined.

TL;DR: The spectrum and distribution of PTPN11 mutations in a large, well-characterized cohort with NS revealed that pulmonic stenosis was more prevalent among the group of subjects with NS who had PTP N11 mutations than it was in the group without them, andotype-phenotype analysis revealed that hypertrophic cardiomyopathy was less prevalent among those with PTPn11 mutations.

TL;DR: The results showed no abnormalities in the coding region of the PTPN11 gene in any CFC patient, nor any evidence of major deletions within the gene suggesting that mutations in other gene(s) are responsible for this syndrome.

TL;DR: Examination of candidate genes from within this large region of chromosome 12 is presented, the precise localisation of three of which, epidermal growth factor receptor pathway substrate-8 ( EPS8 ), decorin ( DCN ), and myosin light chain 2 ( MYL2 ), had not previously been accurately determined.

TL;DR: The author acknowledges that he did not provide acknowledgment of two sources of funding before his paper was published online on 12 November (Nature Genet.