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J Pediatr Endocrinol Metab. 2014 Mar;27(3-4):305-9. doi: 10.1515/jpem-2013-0176.

Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome.

Abstract

BACKGROUND:

Noonan syndrome (NS) is an autosomal dominant syndrome characterized by typical dysmorphic features, cardiac anomalies as well as postnatal growth retardation, and is associated with Ras-MAPK pathway gene mutations. The purpose of this study was to improve the diagnosis of Chilean patients with suspected NS through molecular analysis.

METHODS:

We screened 18 Chilean patients with a clinical diagnosis of NS for mutations in PTPN11 by high resolution melting (HRM) and subsequent sequencing.

RESULTS:

Three PTPN11 missense mutations were detected in 22% of analyzed patients. Of these, two (c.181G>A and c.1510A>G) were previously reported and one was the novel substitution c.328G>A (p.E110K) affecting the linker stretch between the N-SH2 and C-SH2 domains of SHP-2 protein.

CONCLUSION:

Molecular studies confirmed the clinical diagnosis of NS in 4 of 18 patients, which provided support for therapeutic decisions and improved genetic counseling for their families.

PMID:
24150203
DOI:
10.1515/jpem-2013-0176
[Indexed for MEDLINE]

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