Clinical and molecular characterization of 40 patients with Noonan syndrome

被引：47

作者：

Ferrero, Giovanni Battista ^{[1
]}

Baldassarre, Giuseppina ^{[1
]}

Delmonaco, Angelo Giovanni ^{[1
]}

Biamino, Elisa ^{[1
]}

Banaudi, Elena ^{[2
]}

Carta, Claudio ^{[3
]}

Rossi, Cesare ^{[4
]}

Silengo, Margherita Cirillo ^{[1
]}

机构：

[1] Univ Turin, Dept Pediat, I-10126 Turin, Italy

[2] Regina Margherita Childrens Hosp, Dept Cardiol, Turin, Italy

[3] Ist Super Sanita, Dept Cell Biol & Neurosci, I-00161 Rome, Italy

[4] Policlin S Orsola, Med Genet Lab, Dept Pediat, Bologna, Italy

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2008年 / 51卷 / 06期

关键词：

Noonan syndrome; PTPN11; SOS1;

D O I：

10.1016/j.ejmg.2008.06.011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Noonan syndrome (NS, OMIM 163950) is an autosomal dominant disorder, with a prevalence at birth of 1:1000-1:2500 live births, characterized by short stature, facial and skeletal dysmorphisms, cardiovascular defects and haematological anomalies. Missense mutations of PTPN11 gene account for approximately 50% of NS cases, while molecular lesions of other genes of the RAS/MAPK pathway-KRAS, SOS1 and RAF1 - play a minor role in the molecular pathogenesis of the disease. Forty patients were enrolled in the study with a PTPN11 mutation detection rate of 31.5%, including a novel missense mutation, Phe285I1e, in a familial case with high intrafamilial phenotypic variability. All patients negative for PTPN11 mutations were further screened for mutations of the KRAS, SOS1, and RAF1 genes, revealing a Thr266Lys substitution in SOS1 in a single patient, a newborn with a subtle phenotype, characterized by facial dysmorphisms and a mild pulmonic stenosis. (C) 2008 Published by Elsevier Masson SAS.

引用

页码：566 / 572

页数：7

共 19 条

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