Genetic basis of syndromes associated with congenital heart disease

被引:16
作者
Gelb, BD
机构
[1] Mt Sinai Sch Med, Dept Pediat, New York, NY 10029 USA
[2] Mt Sinai Sch Med, Dept Human Genet, New York, NY 10029 USA
关键词
D O I
10.1097/00001573-200105000-00006
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Numerous syndromes affecting patients have phenotypes that include congenital heart defects (CHDs). These disorders have fascinated physicians for many years, raising questions about how seemingly disparate aspects of human development can be perturbed together in striking, but consistent, ways. Paralleling the major advances in human genetics during recent decades, we have come to understand that some of these syndromes arise from gross defects in chromosomal number, some from subtler alterations in genomic regions, and still others from point mutations in specific genes. These disorders, largely mendelian in nature, have provided researchers with the wherewithal to discover disease genes underlying CHD. Although some of these medical conditions are relatively rare, their solution has often provided insights that could be applied toward understanding the basis of nonsyndromic CHD. In this review, recent progress toward uncovering the molecular basis of several forms of syndromic CHD is discussed. (C) 2001 Lippincott Williams & Wilkins. Inc.
引用
收藏
页码:188 / 194
页数:7
相关论文
共 77 条
[61]   The prostaglandin receptor EP4 triggers remodelling of the cardiovascular system at birth [J].
Nguyen, MT ;
Camenisch, T ;
Snouwaert, JN ;
Hicks, E ;
Coffman, TM ;
Anderson, PAW ;
Malouf, MN ;
Koller, BH .
NATURE, 1997, 390 (6655) :78-81
[62]  
OCONNOR WN, 1985, ARCH PATHOL LAB MED, V109, P179
[63]   Mutations in the human Jagged1 gene are responsible for Alagille syndrome [J].
Oda, T ;
Elkahloun, AG ;
Pike, BL ;
Okajima, K ;
Krantz, ID ;
Genin, A ;
Piccoli, DA ;
Meltzer, PS ;
Spinner, NB ;
Collins, FS ;
Chandrasekharappa, SC .
NATURE GENETICS, 1997, 16 (03) :235-242
[64]   AUTOSOMAL-DOMINANT SUPRAVALVULAR AORTIC-STENOSIS - LOCALIZATION TO CHROMOSOME-7 [J].
OLSON, TM ;
MICHELS, VV ;
LINDOR, NM ;
PASTORES, GM ;
WEBER, JL ;
SCHAID, DJ ;
DRISCOLL, DJ ;
FELDT, RH ;
THIBODEAU, SN .
HUMAN MOLECULAR GENETICS, 1993, 2 (07) :869-873
[65]  
PEROU M, 1961, ARCH PATHOL, V71, P113
[66]   The gene for the Ellis van Creveld syndrome is located on chromosome 4p16 [J].
Polymeropoulos, MH ;
Ide, SE ;
Wright, M ;
Goodship, J ;
Weissenbach, J ;
Pyeritz, RE ;
DaSilva, EO ;
DeLuna, RIO ;
Francomano, CA .
GENOMICS, 1996, 35 (01) :1-5
[67]   Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region [J].
Puech, A ;
Saint-Jore, B ;
Merscher, S ;
Russell, RG ;
Cherif, D ;
Sirotkin, H ;
Xu, H ;
Factor, S ;
Kucherlapati, R ;
Skoultchi, AI .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (18) :10090-10095
[68]   A novel 22q11.2 microdeletion in DiGeorge syndrome [J].
Rauch, A ;
Pfeiffer, RA ;
Leipold, G ;
Singer, H ;
Tigges, M ;
Hofbeck, M .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) :659-667
[69]   Coordinated regulation of fetal and maternal prostaglandins directs successful birth and postnatal adaptation in the mouse [J].
Reese, J ;
Paria, BC ;
Brown, N ;
Zhao, XM ;
Morrow, JD ;
Dey, SK .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2000, 97 (17) :9759-9764
[70]   Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis [J].
Ruiz-Perez, VL ;
Ide, SE ;
Strom, TM ;
Lorenz, B ;
Wilson, D ;
Woods, K ;
King, L ;
Francomano, C ;
Freisinger, P ;
Spranger, S ;
Marino, B ;
Dallapiccola, B ;
Wright, M ;
Meitinger, T ;
Polymeropoulos, MH ;
Goodship, J .
NATURE GENETICS, 2000, 24 (03) :283-286