RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature

被引：21

作者：

Wright, Emma M. M. Burkitt ^{[1
,2
]}

Kerr, Bronwyn ^{[1
]}

机构：

[1] Univ Manchester, Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, St Marys Hosp, Manchester M13 9WL, Lancs, England

[2] Manchester Royal Infirm, Manchester Biomed Res Ctr, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester M13 9WL, Lancs, England

来源：

ARCHIVES OF DISEASE IN CHILDHOOD | 2010年 / 95卷 / 09期

关键词：

CUTANEOUS CFC SYNDROME; COSTELLO-SYNDROME; GERMLINE MUTATION; BRAF MUTATIONS; MOUSE MODEL; NOONAN; HRAS; GENE; DIAGNOSIS; PATIENT;

D O I：

10.1136/adc.2009.160069

中图分类号：

R72 [儿科学];

学科分类号：

100202 [儿科学];

摘要：

The disorders described as the neuro-cardio-faciocutaneous conditions (NCFCs) may all present with symptoms that are common in paediatric practice. They result from germline mutations in genes encoding kinases and other proteins interacting in the RAS-MAPK pathway. This review summarises these disorders, discussing their presenting features and clinical course, identifying overarching similarities and, conversely, features that can help to discriminate one condition from another. The genetic basis and importance of precise clinical diagnosis and molecular diagnostic confirmation when possible is discussed, given each condition's different prognosis, and the need to remain vigilant for specific complications.

引用

页码：724 / U91

页数：7

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