PTPN11 Gene Mutation and Severe Neonatal Hypertrophic Cardiomyopathy: What Is the Link?

被引：0
作者：
Maria Felicia Faienza
Lucia Giordani
Marina Ferraris
Gianni Bona
Luciano Cavallo
机构：
[1] Università di Bari,Dipartimento di Biomedicina dell’Età Evolutiva
[2] Università Piemonte Orientale,Clinica Pediatrica
来源：
Pediatric Cardiology | 2009年 / 30卷
关键词：
Hypertrophic cardiomyopathy; Noonan syndrome; gene;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Noonan syndrome (NS) is an autosomal dominant disorder characterized by multiple dysmorphic features and a broad spectrum of congenital heart defects. Specific mutations of the PTPN11 gene are associated with 50% of the NS cases and 90% of the multiple lentigines/LEOPARD syndrome (ML/LS) cases. These two allelic conditions have several overlapping clinical features. This study describes the association between the Gln510Glu mutation of the PTPN11 gene and lethal progressive hypertrophic cardiomyopathy (HCM) in a newborn with the NS phenotype. The findings confirm the intriguing relationship between site-specific mutations of the PTPN11 gene and rapidly progressive HCM.
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页码：1012 / 1015
页数：3
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