Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

Abstract

[No abstract available

Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines

“…Despite the fact that NS and NSML are allelic variant disorders that present with similar phenotypes, including cutaneous-cardio-craniofacial defects and retardation of growth, they display distinct spectra of cardiac involvement. NSML principally presents with HCM, the major morbidity-associated feature of the disorder (15,16), but patients can also have valve defects, electrocardiographic conduction abnormalities, and rarely, pulmonic stenosis (14). In contrast, NS-causing PTPN11 mutations are rarely associated with HCM, and patients present more frequently with pulmonic stenosis and valvuloseptal defects (17).…”

Atrioventricular canal defect in patients with RASopathies

“…DISCUSSION AVCD is the third most common CHD in NS, after PVS and HCM, 7,21 and it has been also documented to occur in NS-ML syndrome. 19,35 The first clinical series reported a figure of 15% AVCD in NS. [5][6][7]16,36,37 In more recent molecular studies, however, AVCD was described only in a few patients, arguing that it might represent a relatively rare complication in RASopathies.…”

LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD

“…The LS is coined by Gorlin et The most plausible explanation for the pathogenesis of LS is neural crest cell abnormality associated with PTPN11 gene mutation, which codes for non-receptor protein tyrosine phosphatase, SHP2 1,10 , which plays important roles in cell proliferation, differentiation, migration and adhesion. To the best of our knowledge, only 11 different missense PTPN11 mutations in exon 7, 12 and 13 have been reported.…”

“…To date, about 200 LS patients have been reported globally. It has recently been reported that LS is related to PTPN11 gene mutation 1 , which is located on chromosome 12q24.1. Herein, we report a case of typical LS associated with PTPN11 gene mutation.…”