Mutations in the G6PC3 Gene Cause Dursun Syndrome

被引：32

作者：

Banka, Siddharth

Newman, William G. ^{[1
]}

Ozgul, R. Koksal ^{[2
]}

Dursun, Ali ^{[2
]}

机构：

[1] Univ Manchester, Dept Med Genet, MAHSC, St Marys Hosp, Manchester M13 9WL, Lancs, England

[2] Hacettepe Univ, Childrens Hosp, Dept Pediat, Nutr & Metab Unit, Ankara, Turkey

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 10期

关键词：

Dursun syndrome; severe congenital neutropenia; G6PC3; glucose-6-phosphatase; primary pulmonary hypertension; SEVERE CONGENITAL NEUTROPENIA; ARTERIAL-HYPERTENSION; PULMONARY;

D O I：

10.1002/ajmg.a.33615

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Dursun syndrome is a triad of familial primary pulmonary hypertension, leucopenia, and atrial septal defect. Here we demonstrate that mutations in G6PC3 cause Dursun syndrome. Mutations in G6PC3 are known to also cause severe congenital neutropenia type 4. Identification of the genetic basis of Dursun syndrome expands the pre-existing knowledge about the phenotypic effects of mutations in G6PC3. We propose that Dursun syndrome should now be considered as a subset of severe congenital neutropenia type 4 with pulmonary hypertension as an important clinical feature. (C) 2010 Wiley-Liss, Inc.

引用

页码：2609 / 2611

页数：3

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