Advances in molecular genetics for pulmonary atresia

被引：10

作者：

Gao, Manchen ^{[1
]}

He, Xiaomin ^{[1
]}

Zheng, Jinghao ^{[1
]}

机构：

[1] Shanghai Jiao Tong Univ, Sch Med, Shanghai Childrens Med Ctr, Dept Cardiothorac Surg, 1678 Dongfang Rd, Shanghai 200127, Peoples R China

来源：

CARDIOLOGY IN THE YOUNG | 2017年 / 27卷 / 02期

关键词：

CHD; pulmonary atresia; copy number variants; gene mutations; CONGENITAL HEART-DEFECTS; HYPOPLASTIC LEFT-HEART; COPY-NUMBER VARIANTS; CHROMOSOME; 1Q21.1; 22Q11.2; DELETION; MYH6; MUTATIONS; DISEASE; ASSOCIATION; RISK; POLYMORPHISMS;

D O I：

10.1017/S1047951116001487

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Genetic and environmental factors may be similar in certain CHD. It has been widely accepted that it is the cumulative effect of these risk factors that results in disease. Pulmonary atresia is a rare type of complex cyanotic CHD with a poor prognosis. Understanding the molecular mechanism of pulmonary atresia is essential for future diagnosis, prevention, and therapeutic approaches. In this article, we reviewed several related copy number variants and related genetic mutations, which were identified in patients with pulmonary atresia, including pulmonary atresia with ventricular septal defect and pulmonary atresia with intact ventricular septum.

引用

页码：207 / 216

页数：10

共 61 条

[1] Congenital heart disease in 37,294 births in Tunisia: birth prevalence and mortality rate [J].

Abid, Dorra ;

Elloumi, Anis ;

Abid, Leila ;

Mallek, Souad ;

Aloulou, Hajer ;

Chabchoub, Imen ;

Bouraoui, Amira ;

Thabet, Afef ;

Gargouri, Lamia ;

Zribi, Malek ;

Yaich, Sourour ;

Hachicha, Mongia ;

Gargouri, Abdellatif ;

Mahfoudh, Abdelmajid ;

Maatoug, Samir ;

Dammak, Jamel ;

Kammoun, Samir .

CARDIOLOGY IN THE YOUNG, 2014, 24 (05) :866-871

[2]

Arrington CB, 2013, FUTUR CARDIOL, V9, P507, DOI [10.2217/FCA.13.40, 10.2217/fca.13.40]

[3] Exome Analysis of a Family With Pleiotropic Congenital Heart Disease [J].

Arrington, Cammon B. ;

Bleyl, Steven B. ;

Matsunami, Norisada ;

Bonnell, Gabriel D. ;

Otterud, Brith E. M. ;

Nielsen, Douglas C. ;

Stevens, Jeffrey ;

Levy, Shawn ;

Leppert, Mark F. ;

Bowles, Neil E. .

CIRCULATION-CARDIOVASCULAR GENETICS, 2012, 5 (02) :175-182

[4] Genetic mechanisms controlling cardiovascular development [J].

Bentham, Jamie ;

Bhattacharya, Shoumo .

CONTROL AND REGULATION OF TRANSPORT PHENOMENA IN THE CARDIAC SYSTEM, 2008, 1123 :10-19

[5] Array Comparative Genomic Hybridization as a Diagnostic Tool for Syndromic Heart Defects [J].

Breckpot, Jeroen ;

Thienpont, Bernard ;

Peeters, Hilde ;

de Ravel, Thomy ;

Singer, Amihood ;

Rayyan, Maissa ;

Allegaert, Karel ;

Vanhole, Christine ;

Eyskens, Benedicte ;

Vermeesch, Joris Robert ;

Gewillig, Marc ;

Devriendt, Koenraad .

JOURNAL OF PEDIATRICS, 2010, 156 (05) :810-U175

[6] Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease [J].

Cario, Holger ;

Smith, Desiree E. C. ;

Blom, Henk ;

Blau, Nenad ;

Bode, Harald ;

Holzmann, Karlheinz ;

Pannicke, Ulrich ;

Hopfner, Karl-Peter ;

Rump, Eva-Maria ;

Ayric, Zuleya ;

Kohne, Elisabeth ;

Debatin, Klaus-Michael ;

Smulders, Yvo ;

Schwarz, Klaus .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 88 (02) :226-231

[7] Risk of congenital heart defects is influenced by genetic variation in folate metabolism [J].

Christensen, Karen E. ;

Zada, Yassamin Feroz ;

Rohlicek, Charles V. ;

Andelfinger, Gregor U. ;

Michaud, Jacques L. ;

Bigras, Jean-Luc ;

Richter, Andrea ;

Dube, Marie-Pierre ;

Rozen, Rima .

CARDIOLOGY IN THE YOUNG, 2013, 23 (01) :89-98

[8] Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease [J].

Christiansen, J ;

Dyck, JD ;

Elyas, BG ;

Lilley, M ;

Bamforth, JS ;

Hicks, M ;

Sprysak, KA ;

Tomaszewski, R ;

Haase, SM ;

Vicen-Wyhony, LM ;

Somerville, MJ .

CIRCULATION RESEARCH, 2004, 94 (11) :1429-1435

[9] Genetics and Genetic Testing in Congenital Heart Disease [J].

Cowan, Jason R. ;

Ware, Stephanie M. .

CLINICS IN PERINATOLOGY, 2015, 42 (02) :373-393

[10] Tetralogy of Fallot and other congenital heart defects in Hey2 mutant mice [J].

Donovan, J ;

Kordylewska, A ;

Jan, YN ;

Utset, MF .

CURRENT BIOLOGY, 2002, 12 (18) :1605-1610

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