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LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

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Title: LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Authors: Young RE; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Qiao L; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Department of Systems Biology, Columbia University Irving Medical Center, New York, New York, USA., Hernan R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Sweetser DA; Division of Medical Genetics and Metabolism, Department of Pediatrics; and Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA., Waxler JL; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Scott TM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Bostwick B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rodan LH; Division of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Russell BE; Department of Human Genetics, Division of Clinical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California, USA., Dutra-Clarke M; Department of Human Genetics, Division of Clinical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, California, USA., Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Bakhtiarim S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, Arizona, USA., Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran., Amor DJ; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Australia., Rahman S; Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, and Metabolic Department, Great Ormond Street Hospital for Children, London, UK., Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Bradley L; Department of Clinical Genetics and Department of Neurology, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland., Byrne S; Department of Clinical Genetics and Department of Neurology, Children's Health Ireland (CHI) at Crumlin, Dublin, Ireland., Tolusso LK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Wong B; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Benedict L; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, Ohio, USA., Wallis K; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, Ohio, USA., Micke K; Colorado Fetal Care Center, Children's Hospital Colorado, Aurora, Colorado, USA., Colson C; Univ. Lille, CHU Lille, ULR7364-RADEME-Maladies RAres du DEveloppement Embryonnaire et du Métabolisme, CRMR Anomalies du Développement et Syndromes Malformatifs, Lille, France., Smol T; Univ. Lille, CHU Lille, ULR7364-RADEME-Maladies RAres du DEveloppement Embryonnaire et du Métabolisme, CRMR Anomalies du Développement et Syndromes Malformatifs, Lille, France., Southwick SV; Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins Hospital, Baltimore, Maryland, USA., Miller KA; Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins Hospital, Baltimore, Maryland, USA., Kush ML; Center for Fetal Therapy, Department of Gynecology & Obstetrics, Johns Hopkins University, Baltimore, Maryland, USA., Chorin O; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, the Danek Gertner Institute of Genetics, Sheba Medical Center, Ramat Gan, Israel., Rothschild A; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, the Danek Gertner Institute of Genetics, Sheba Medical Center, Ramat Gan, Israel., Wang W; GeneDx, LLC, Gaithersburg, Maryland, USA., Shen Y; Department of Systems Biology, Columbia University Irving Medical Center, New York, New York, USA.; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, New York, USA.; JP Sulzberger Columbia Genome Center, Columbia University Irving Medical Center, New York, New York, USA., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Corporate Authors: Undiagnosed Diseases Network
Source: Clinical genetics [Clin Genet] 2026 Mar; Vol. 109 (3), pp. 437-457. Date of Electronic Publication: 2025 Sep 10.
Publication Type: Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
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Lille, CHU Lille, ULR7364-RADEME-Maladies RAres du DEveloppement Embryonnaire et du Métabolisme, CRMR Anomalies du Développement et Syndromes Malformatifs, Lille, France.<br /><searchLink fieldCode="AU" term="%22Southwick+SV%22">Southwick SV</searchLink>; Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins Hospital, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Miller+KA%22">Miller KA</searchLink>; Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins Hospital, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Kush+ML%22">Kush ML</searchLink>; Center for Fetal Therapy, Department of Gynecology & Obstetrics, Johns Hopkins University, Baltimore, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Chorin+O%22">Chorin O</searchLink>; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, the Danek Gertner Institute of Genetics, Sheba Medical Center, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Rothschild+A%22">Rothschild A</searchLink>; Institute of Rare Diseases, Edmond and Lily Safra Hospital for Children, the Danek Gertner Institute of Genetics, Sheba Medical Center, Ramat Gan, Israel.<br /><searchLink fieldCode="AU" term="%22Wang+W%22">Wang W</searchLink>; GeneDx, LLC, Gaithersburg, Maryland, USA.<br /><searchLink fieldCode="AU" term="%22Shen+Y%22">Shen Y</searchLink>; Department of Systems Biology, Columbia University Irving Medical Center, New York, New York, USA.; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, New York, USA.; JP Sulzberger Columbia Genome Center, Columbia University Irving Medical Center, New York, New York, USA.<br /><searchLink fieldCode="AU" term="%22Chung+WK%22">Chung WK</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
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