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Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.

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Title: Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.
Authors: Chan SH; DNA Diagnostic and Research Laboratory, Department of Genomic Medicine, KK Women's and Children's Hospital, Singapore 229899, Singapore; Paediatric Academic Clinical Program, Duke-NUS Medical School, Singapore 169857, Singapore., Iness AN; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Bekheirnia MR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Burrage LC; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Chau MHK; Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China; Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Hong Kong, China; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong, China., Htoo CEMC; Department of Genomic Medicine, KK Women's and Children's Hospital, Singapore 229899, Singapore., Kao EC; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Ketkar S; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lim WW; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore 169857, Singapore., Luo X; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Mazlan R; Genetic Medicine Unit, University of Malaya Medical Center, Kuala Lumpur 59100, Malaysia., Mizerik E; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Mun KS; Department of Pathology, University of Malaya Medical Center, Kuala Lumpur 59100, Malaysia., Patel KR; Texas Children's Hospital, Houston, TX 77030, USA; Pathology & Immunology, Baylor College of Medicine, Houston, TX 77030, USA., Potocki L; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Rapp CK; Department of Pediatrics, Ludwig-Maximilian University Munich, German Center for Lung Research (DZL), Munich, Bavaria 80337, Germany., Roca X; School of Biological Sciences, Nanyang Technological University, Singapore 637551, Singapore., Saianda A; Pediatric Pulmonology Unit, Department of Pediatrics, Santa Maria Hospital, Santa Maria Local Healthy Unit and Faculty of Medicine, University of Lisbon, 1649-028 Lisbon, Portugal., Iglesias-Serrano I; Paediatric Pulmonology Section, Department of Paediatrics, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain., Siew EC; Genetic Medicine Unit, University of Malaya Medical Center, Kuala Lumpur 59100, Malaysia; Genetic and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia., Sim DY; School of Biological Sciences, Nanyang Technological University, Singapore 637551, Singapore., Spielberg DR; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Tae SK; Genetic Medicine Unit, University of Malaya Medical Center, Kuala Lumpur 59100, Malaysia; Genetic and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia., Teo JX; SingHealth Duke-NUS Institute of Precision Medicine, Singapore 169609, Singapore., Warfsmann J; Department of Pediatrics, Ludwig-Maximilian University Munich, German Center for Lung Research (DZL), Munich, Bavaria 80337, Germany., Xia F; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Jamuar SS; Paediatric Academic Clinical Program, Duke-NUS Medical School, Singapore 169857, Singapore; Department of Genomic Medicine, KK Women's and Children's Hospital, Singapore 229899, Singapore; SingHealth Duke-NUS Institute of Precision Medicine, Singapore 169609, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore 168582, Singapore., Tan ES; Paediatric Academic Clinical Program, Duke-NUS Medical School, Singapore 169857, Singapore; Department of Genomic Medicine, KK Women's and Children's Hospital, Singapore 229899, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore 168582, Singapore., Griese M; Department of Pediatrics, Ludwig-Maximilian University Munich, German Center for Lung Research (DZL), Munich, Bavaria 80337, Germany., Lim WK; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore 169857, Singapore; SingHealth Duke-NUS Institute of Precision Medicine, Singapore 169609, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore 168582, Singapore; Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore 138672, Singapore., Thong MK; Genetic Medicine Unit, University of Malaya Medical Center, Kuala Lumpur 59100, Malaysia; Genetic and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia; M. Kandiah Faculty of Medicine and Health Sciences, Universiti Tunku Abdul Rahman, Kajang, Selangor 43000, Malaysia. Electronic address: thongmk@um.edu.my., Machol K; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: machol@bcm.edu.
Corporate Authors: chILD-EU Registry, Undiagnosed Diseases Network
Source: American journal of human genetics [Am J Hum Genet] 2026 Jul 02; Vol. 113 (7), pp. 1558-1569. Date of Electronic Publication: 2026 Jun 08.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Bi-allelic loss-of-function variants in TMEM63B cause syndromic surfactant dysfunction disorder.
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  Data: <searchLink fieldCode="AU" term="%22Chan+SH%22">Chan SH</searchLink>; DNA Diagnostic and Research Laboratory, Department of Genomic Medicine, KK Women's and Children's Hospital, Singapore 229899, Singapore; Paediatric Academic Clinical Program, Duke-NUS Medical School, Singapore 169857, Singapore.<br /><searchLink fieldCode="AU" term="%22Iness+AN%22">Iness AN</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Bekheirnia+MR%22">Bekheirnia MR</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Chau+MHK%22">Chau MHK</searchLink>; Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China; Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Hong Kong, China; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center for Medical Genetics, Hong Kong, China.<br /><searchLink fieldCode="AU" term="%22Htoo+CEMC%22">Htoo CEMC</searchLink>; Department of Genomic Medicine, KK Women's and Children's Hospital, Singapore 229899, Singapore.<br /><searchLink fieldCode="AU" term="%22Kao+EC%22">Kao EC</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.<br /><searchLink fieldCode="AU" term="%22Ketkar+S%22">Ketkar S</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Lim+WW%22">Lim WW</searchLink>; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore 169857, Singapore.<br /><searchLink fieldCode="AU" term="%22Luo+X%22">Luo X</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.<br /><searchLink fieldCode="AU" term="%22Mazlan+R%22">Mazlan R</searchLink>; Genetic Medicine Unit, University of Malaya Medical Center, Kuala Lumpur 59100, Malaysia.<br /><searchLink fieldCode="AU" term="%22Mizerik+E%22">Mizerik E</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Mun+KS%22">Mun KS</searchLink>; Department of Pathology, University of Malaya Medical Center, Kuala Lumpur 59100, Malaysia.<br /><searchLink fieldCode="AU" term="%22Patel+KR%22">Patel KR</searchLink>; Texas Children's Hospital, Houston, TX 77030, USA; Pathology & Immunology, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Potocki+L%22">Potocki L</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Rapp+CK%22">Rapp CK</searchLink>; Department of Pediatrics, Ludwig-Maximilian University Munich, German Center for Lung Research (DZL), Munich, Bavaria 80337, Germany.<br /><searchLink fieldCode="AU" term="%22Roca+X%22">Roca X</searchLink>; School of Biological Sciences, Nanyang Technological University, Singapore 637551, Singapore.<br /><searchLink fieldCode="AU" term="%22Saianda+A%22">Saianda A</searchLink>; Pediatric Pulmonology Unit, Department of Pediatrics, Santa Maria Hospital, Santa Maria Local Healthy Unit and Faculty of Medicine, University of Lisbon, 1649-028 Lisbon, Portugal.<br /><searchLink fieldCode="AU" term="%22Iglesias-Serrano+I%22">Iglesias-Serrano I</searchLink>; Paediatric Pulmonology Section, Department of Paediatrics, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Universitat Autònoma de Barcelona, 08035 Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Siew+EC%22">Siew EC</searchLink>; Genetic Medicine Unit, University of Malaya Medical Center, Kuala Lumpur 59100, Malaysia; Genetic and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia.<br /><searchLink fieldCode="AU" term="%22Sim+DY%22">Sim DY</searchLink>; School of Biological Sciences, Nanyang Technological University, Singapore 637551, Singapore.<br /><searchLink fieldCode="AU" term="%22Spielberg+DR%22">Spielberg DR</searchLink>; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Tae+SK%22">Tae SK</searchLink>; Genetic Medicine Unit, University of Malaya Medical Center, Kuala Lumpur 59100, Malaysia; Genetic and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia.<br /><searchLink fieldCode="AU" term="%22Teo+JX%22">Teo JX</searchLink>; SingHealth Duke-NUS Institute of Precision Medicine, Singapore 169609, Singapore.<br /><searchLink fieldCode="AU" term="%22Warfsmann+J%22">Warfsmann J</searchLink>; Department of Pediatrics, Ludwig-Maximilian University Munich, German Center for Lung Research (DZL), Munich, Bavaria 80337, Germany.<br /><searchLink fieldCode="AU" term="%22Xia+F%22">Xia F</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.<br /><searchLink fieldCode="AU" term="%22Jamuar+SS%22">Jamuar SS</searchLink>; Paediatric Academic Clinical Program, Duke-NUS Medical School, Singapore 169857, Singapore; Department of Genomic Medicine, KK Women's and Children's Hospital, Singapore 229899, Singapore; SingHealth Duke-NUS Institute of Precision Medicine, Singapore 169609, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore 168582, Singapore.<br /><searchLink fieldCode="AU" term="%22Tan+ES%22">Tan ES</searchLink>; Paediatric Academic Clinical Program, Duke-NUS Medical School, Singapore 169857, Singapore; Department of Genomic Medicine, KK Women's and Children's Hospital, Singapore 229899, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore 168582, Singapore.<br /><searchLink fieldCode="AU" term="%22Griese+M%22">Griese M</searchLink>; Department of Pediatrics, Ludwig-Maximilian University Munich, German Center for Lung Research (DZL), Munich, Bavaria 80337, Germany.<br /><searchLink fieldCode="AU" term="%22Lim+WK%22">Lim WK</searchLink>; Cancer & Stem Cell Biology Program, Duke-NUS Medical School, Singapore 169857, Singapore; SingHealth Duke-NUS Institute of Precision Medicine, Singapore 169609, Singapore; SingHealth Duke-NUS Genomic Medicine Centre, Singapore 168582, Singapore; Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore 138672, Singapore.<br /><searchLink fieldCode="AU" term="%22Thong+MK%22">Thong MK</searchLink>; Genetic Medicine Unit, University of Malaya Medical Center, Kuala Lumpur 59100, Malaysia; Genetic and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia; 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Kandiah Faculty of Medicine and Health Sciences, Universiti Tunku Abdul Rahman, Kajang, Selangor 43000, Malaysia. Electronic address: thongmk@um.edu.my.<br /><searchLink fieldCode="AU" term="%22Machol+K%22">Machol K</searchLink>; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: machol@bcm.edu.
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