NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

• Published in: Circulation research Vol. 110; no. 12; pp. 1564 - 1574
• Main Authors: French, Vanessa M., van de Laar, Ingrid M.B.H., Wessels, Marja W., Rohe, Christan, Roos-Hesselink, Jolien W., Wang, Guangliang, Frohn-Mulder, Ingrid M.E., Severijnen, Lies-Anne, de Graaf, Bianca M., Schot, Rachel, Breedveld, Guido, Mientjes, Edwin, van Tienhoven, Marianne, Jadot, Elodie, Jiang, Zhengxin, Verkerk, Annemieke, Swagemakers, Sigrid, Venselaar, Hanka, Rahimi, Zohreh, Najmabadi, Hossein, Meijers-Heijboer, Hanne, de Graaff, Esther, Helbing, Wim A., Willemsen, Rob, Devriendt, Koen, Belmont, John W., Oostra, Ben A., Amack, Jeffrey D., Bertoli-Avella, Aida M.
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD American Heart Association, Inc 08.06.2012; Lippincott Williams & Wilkins
• Subjects: Amino Acid Sequence; Animals; Biological and medical sciences; Cohort Studies; Female; Fundamental and applied biological sciences. Psychology; Genetic Pleiotropy - genetics; Genetic Variation - genetics; Genome-Wide Association Study - methods; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - genetics; Heart Defects, Congenital - pathology; Humans; Male; Molecular Sequence Data; Pedigree; Proteins - genetics; Vertebrates: cardiovascular system; Zebrafish; Heart; Congenital; nphp4; congenital heart malformations; Vertebrata; Brachydanio rerio; Mammalia; Malformation; Pisces; heterotaxy; cilia; Circulatory system; zebrafish

RATIONALE:Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. OBJECTIVE:To identify genetic mut...