{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T21:03:41Z","timestamp":1791407021233,"version":"4.3.3"},"reference-count":49,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"12","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation Research"],"published-print":{"date-parts":[[2012,6,8]]},"abstract":"<jats:sec>\n                    <jats:title>\n                      <jats:underline>Rationale:<\/jats:underline>\n                    <\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>\n                      <jats:underline>Objective:<\/jats:underline>\n                    <\/jats:title>\n                    <jats:p>To identify genetic mutations causing cardiac laterality defects.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>\n                      <jats:underline>Methods and Results:<\/jats:underline>\n                    <\/jats:title>\n                    <jats:p>\n                      We performed a genome-wide linkage analysis in patients with cardiac laterality defects from a consanguineous family. The patients had combinations of defects that included dextrocardia, transposition of great arteries, double-outlet right ventricle, atrioventricular septal defects, and caval vein abnormalities. Sequencing of positional candidate genes identified mutations in\n                      <jats:italic>NPHP4<\/jats:italic>\n                      . We performed mutation analysis of\n                      <jats:italic>NPHP4<\/jats:italic>\n                      in 146 unrelated patients with similar cardiac laterality defects. Forty-one percent of these patients also had laterality defects of the abdominal organs. We identified 8 additional missense variants that were absent or very rare in control subjects. To study the role of\n                      <jats:italic>nphp4<\/jats:italic>\n                      in establishing L-R asymmetry, we used antisense morpholinos to knockdown\n                      <jats:italic>nphp4<\/jats:italic>\n                      expression in zebrafish. Depletion of\n                      <jats:italic>nphp4<\/jats:italic>\n                      disrupted L-R patterning as well as cardiac and gut laterality. Cardiac laterality defects were partially rescued by human\n                      <jats:italic>NPHP4<\/jats:italic>\n                      mRNA, whereas mutant\n                      <jats:italic>NPHP4<\/jats:italic>\n                      containing genetic variants found in patients failed to rescue. We show that\n                      <jats:italic>nphp4<\/jats:italic>\n                      is involved in the formation of motile cilia in Kupffer's vesicle, which generate asymmetrical fluid flow necessary for normal L-R asymmetry.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>\n                      <jats:underline>Conclusions:<\/jats:underline>\n                    <\/jats:title>\n                    <jats:p>\n                      <jats:italic>NPHP4<\/jats:italic>\n                      mutations are associated with cardiac laterality defects and heterotaxy. In zebrafish,\n                      <jats:italic>nphp4<\/jats:italic>\n                      is essential for the development and function of Kupffer's vesicle cilia and is required for global L-R patterning.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1161\/circresaha.112.269795","type":"journal-article","created":{"date-parts":[[2012,5,2]],"date-time":"2012-05-02T00:26:38Z","timestamp":1335918398000},"page":"1564-1574","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":55,"title":["<i>NPHP4<\/i>\n                    Variants Are Associated With Pleiotropic Heart Malformations"],"prefix":"10.1161","volume":"110","author":[{"given":"Vanessa M.","family":"French","sequence":"first","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M.B.H.","family":"van de Laar","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marja W.","family":"Wessels","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christan","family":"Rohe","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolien W.","family":"Roos-Hesselink","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangliang","family":"Wang","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M.E.","family":"Frohn-Mulder","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lies-Anne","family":"Severijnen","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bianca M.","family":"de Graaf","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Schot","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Breedveld","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin","family":"Mientjes","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"van Tienhoven","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Jadot","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhengxin","family":"Jiang","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemieke","family":"Verkerk","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigrid","family":"Swagemakers","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanka","family":"Venselaar","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zohreh","family":"Rahimi","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Najmabadi","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanne","family":"Meijers-Heijboer","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"de Graaff","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim A.","family":"Helbing","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rob","family":"Willemsen","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); the Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands (J.W.R.-H.); State University of New York, Upstate Medical University, Department of Cell and Developmental Biology, Syracuse, NY (G.W., J.D.A.); the Department of Pediatric Cardiology, Erasmus Medical Center-Sophia,..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen","family":"Devriendt","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands (V.M.F., I.M.B.H.v.d.L., M.W.W., C.R., L.-A.S., B.M.d.G., R.S., G.B., E.M., M.v.T., R.W., B.A.O., A.M.B.-A.); 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