{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T03:54:27Z","timestamp":1790913267573,"version":"4.1.0"},"reference-count":46,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T00:00:00Z","timestamp":1787356800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T00:00:00Z","timestamp":1787356800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Heterotaxy (HTX) is a rare condition characterized by complex congenital heart defects and a wide spectrum of extracardiac abnormalities that significantly impact survival. While molecular diagnosis is essential for clinical management, next\u2010generation sequencing (NGS) currently identifies disease\u2010causing variants in only 20%\u201330% of HTX cases. To address this diagnostic gap, we collected cases of HTX investigated by trio\u2010based whole\u2010exome (WES) and whole\u2010genome sequencing (WGS) and performed detailed clinical and molecular characterization in seven children and fetuses from France and Vietnam. In parallel, we conducted a systematic review of 108 published cases to refine genotype\u2013phenotype correlations. We identified seven variants in four key genes:\n                    <jats:italic>DNAH9<\/jats:italic>\n                    ,\n                    <jats:italic>PKD1L1<\/jats:italic>\n                    ,\n                    <jats:italic>MMP21<\/jats:italic>\n                    , and\n                    <jats:italic>GDF1<\/jats:italic>\n                    . The findings revealed significant phenotypic heterogeneity while highlighting strong genotype\u2013phenotype correlations, such as the association of\n                    <jats:italic>MMP21<\/jats:italic>\n                    and\n                    <jats:italic>GDF1<\/jats:italic>\n                    variants with severe conotruncal malformations. Two unreported variants were identified, further expanding the mutational spectrum of laterality defects. By integrating fetopathological data with advanced genomic analyses, we further delineate the phenotypic spectrum of these conditions. Ultimately, this work underscores the high diagnostic value of NGS in prenatal and neonatal cardiology, enabling earlier diagnosis and more personalized clinical management.\n                  <\/jats:p>","DOI":"10.1111\/cge.70227","type":"journal-article","created":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T07:46:52Z","timestamp":1787384812000},"page":"574-583","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetics in Heterotaxy: A Case Series and Literature Review on\n                    <scp>\n                      <i>DNAH9<\/i>\n                    <\/scp>\n                    ,\n                    <scp>\n                      <i>PKD1L1<\/i>\n                    <\/scp>\n                    ,\n                    <scp>\n                      <i>MMP21<\/i>\n                    <\/scp>\n                    , and\n                    <scp>\n                      <i>GDF1<\/i>\n                    <\/scp>"],"prefix":"10.1111","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-4003-8799","authenticated-orcid":false,"given":"Thi Bich Tuyen","family":"Ho","sequence":"first","affiliation":[{"name":"Department of Neonatology Children's Hospital 2  Ho Chi Minh City Vietnam"},{"name":"Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309 University of Grenoble Alpes  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-9386-730X","authenticated-orcid":false,"given":"Alicia","family":"Coudert","sequence":"additional","affiliation":[{"name":"Genetic, Genomic and Procreation Department Grenoble\u2010Alpes University Hospital  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thi Thuy Hang","family":"Do","sequence":"additional","affiliation":[{"name":"Department of Cardiology Children's Hospital 2  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thi Thanh Thuy","family":"Le","sequence":"additional","affiliation":[{"name":"Department of Clinical Microbiology Children's Hospital 2  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolaine","family":"Gauthier","sequence":"additional","affiliation":[{"name":"Genetic, Genomic and Procreation Department Grenoble\u2010Alpes University Hospital  Grenoble France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Dubucs","sequence":"additional","affiliation":[{"name":"Department of Pathology Toulouse University Hospital  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2914-1961","authenticated-orcid":false,"given":"Jeremie","family":"Mortreux","sequence":"additional","affiliation":[{"name":"GCS AURAGEN  Lyon 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Biosciences, Inserm U 1209, CNRS UMR 5309 University of Grenoble Alpes  Grenoble France"},{"name":"Genetic, Genomic and Procreation Department Grenoble\u2010Alpes University Hospital  Grenoble France"},{"name":"GCS AURAGEN  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7852-8591","authenticated-orcid":false,"given":"V\u00e9ronique","family":"Satre","sequence":"additional","affiliation":[{"name":"Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309 University of Grenoble Alpes  Grenoble France"},{"name":"Genetic, Genomic and Procreation Department Grenoble\u2010Alpes University Hospital  Grenoble France"},{"name":"GCS AURAGEN  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radu","family":"Harbuz","sequence":"additional","affiliation":[{"name":"Genetic, Genomic and Procreation Department Grenoble\u2010Alpes University Hospital  Grenoble France"},{"name":"GCS AURAGEN  Lyon 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