{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T16:43:25Z","timestamp":1773161005034,"version":"3.50.1"},"reference-count":6,"publisher":"Wiley","issue":"6-7","license":[{"start":{"date-parts":[[2023,12,31]],"date-time":"2023-12-31T00:00:00Z","timestamp":1703980800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A couple was referred for prenatal counseling at the gestational age of 35\u00a0weeks of a male fetus (II\u20102) with sinus bradycardia and suspected first degree atrioventricular block with left ventricular noncompaction (LVNC). A previous pregnancy for the couple of a female fetus (II\u20101) was diagnosed prenatally as sinus bradycardia at the gestational age of 30\u00a0weeks. Both fetuses were confirmed to have long QT syndrome (LQTS) with LVNC after birth, and died of heart failure during infancy. The genetic cause of the combined cardiovascular disorders was investigated by trio whole\u2010exome sequencing and Sanger sequencing on DNA extracted from parental blood samples and umbilical cord serum of the proband. Compound heterozygous variants were identified in the endoplasmic reticulum membrane protein complex subunit 1 gene (<jats:italic>EMC1<\/jats:italic>, NM_015047.3), including paternally inherited c.245C&gt;T (p.\u00a0Thr82Met) and maternally inherited c.1459delC (p. Arg487Alafs*49). Pathogenic variants in <jats:italic>EMC1<\/jats:italic> have been associated with a recessive neurodevelopmental disorder, whereas <jats:italic>Emc10<\/jats:italic> knockout mice exhibit cardiovascular issues. The present study shows that <jats:italic>EMC1<\/jats:italic> variation potentially causes the overlapping phenotypes of LVNC and LQTS and may expand the spectrum of diseases caused by <jats:italic>EMC1<\/jats:italic> variation.<\/jats:p>","DOI":"10.1002\/pd.6509","type":"journal-article","created":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T07:44:30Z","timestamp":1704095070000},"page":"907-911","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel compound heterozygous variants in <i>EMC1<\/i>: Overlapping phenotypes of left ventricular noncompaction and long QT syndrome warranting in\u2010depth exploration"],"prefix":"10.1002","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3019-8073","authenticated-orcid":false,"given":"Xiaohui","family":"Dai","sequence":"first","affiliation":[{"name":"Department of Ultrasonic Medicine West China Second University Hospital of Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu Sichuan China"},{"name":"NHC Key Laboratory of Chronobiology Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3054-0601","authenticated-orcid":false,"given":"Yu","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Ultrasonic Medicine West China Second University Hospital of Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu Sichuan China"},{"name":"NHC Key Laboratory of Chronobiology Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanmin","family":"Liu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu Sichuan China"},{"name":"NHC Key Laboratory of Chronobiology Sichuan University  Chengdu Sichuan China"},{"name":"Department of Pediatric Pulmonology and Immunology West China Second University Hospital of Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Chronobiology (Sichuan University) National Health Commission of China  Chengdu Sichuan China"},{"name":"The Joint Laboratory for Lung Development and Related Diseases of West China Second University Hospital Sichuan University and School of Life Sciences of Fudan University West China Institute of Women and Children's Health West China Second University Hospital of Sichuan University  Chengdu Sichuan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiao","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Ultrasonic Medicine West China Second University Hospital of Sichuan University  Chengdu Sichuan China"},{"name":"Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University) Ministry of Education  Chengdu Sichuan China"},{"name":"NHC Key Laboratory of Chronobiology Sichuan University  Chengdu Sichuan China"},{"name":"Department of Ultrasonic Medicine Tibet Autonomous Region Women's and Children's Hospital  Lhasa, Tibet China"},{"name":"Tibet Autonomous Region Women's and Children's Hospital West China Second University Hospital of Sichuan University  Lhasa, Tibet China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,12,31]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.01.011"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ipej.2021.03.001"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010023\u201006175\u20105"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci129308"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13165"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6509","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,16]],"date-time":"2024-06-16T12:27:55Z","timestamp":1718540875000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6509"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12,31]]},"references-count":6,"journal-issue":{"issue":"6-7","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1002\/pd.6509"],"URL":"https:\/\/doi.org\/10.1002\/pd.6509","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,12,31]]},"assertion":[{"value":"2023-08-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-12-31","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}