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BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

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Title: BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
Authors: De Pace R; Division of Neurosciences & Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Dominguez Gonzalez CA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Williamson CD; Division of Neurosciences & Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Helman G; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, 3000 CA Rotterdam, the Netherlands., Disanza B; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Hsiao-Sánchez N; Division of Neurosciences & Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Muirhead K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bonkowsky JL; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84113, USA., Taft RJ; Illumina, Inc., San Diego, CA 92122, USA., Sannaa NA; John Hopkins Aramco Health Care, Gharb Al Dhahran, Dhahran 31311, Saudi Arabia., Dias P; Serviço de Genética Médica, Unidade Local de Saúde de Santa Maria, 1649-035 Lisboa, Portugal., Quintas AS; Serviço de Pediatria - Unidade de Neuropediatria, Unidade Local de Saúde de Santa Maria, 1649-028 Lisboa, Portugal., Mutlu MB; DETAGEN Genetic Disease Evaluation Center, Kayseri, Kayseri Province 38000, Turkey., Bas H; Intergen Genetics and Rare Diseases Diagnosis Center, Ankara 06510, Turkey., Oztürk H; Intergen Genetics and Rare Diseases Diagnosis Center, Ankara 06510, Turkey., Mojarrad M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 91771, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Genetic Foundation of Khorasan Razavi, Mashhad 91771, Iran., Alerasool M; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 91771, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Genetic Foundation of Khorasan Razavi, Mashhad 91771, Iran., Sheikhani S; Pediatric Department, Valiasr Hospital, Birjand University of Medical Sciences, Birjand 97179 64151, Iran., Jabbar HK; Department of Paediatrics, Al-Sayyab Teaching Hospital, Basrah 61030, Iraq., Issa AH; Department of Neurology, University of Basrah, Basrah 61004, Iraq., Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, WC1N 3BG London, UK., Zonic E; CENTOGENE GmbH, 18055 Rostock, Germany., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3000 CA Rotterdam, the Netherlands., Tripolski K; CENTOGENE GmbH, 18055 Rostock, Germany., Romito A; CENTOGENE GmbH, 18055 Rostock, Germany., Teferedegn E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Vossough A; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Radiology, Perelmann School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Whitehead MT; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Radiology, Perelmann School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Bhoj E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Ahrens-Nicklas RC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Simons C; Center for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW 2011, Australia., Wolvetang E; Stem Cell Engineering Group, Australian Institute for Bioengineering and Nanotechnology, University of Queensland, Brisbane, QLD 4067, Australia., van Ham TJ; Department of Clinical Genetics, Erasmus MC University Medical Center, 3000 CA Rotterdam, the Netherlands., Bertoli-Avella AM; CENTOGENE GmbH, 18055 Rostock, Germany., Maroofian R; Department of Neuromuscular Diseases, UCL Institute of Neurology, WC1N 3BG London, UK., Bonifacino JS; Division of Neurosciences & Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA., Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: vandervera@chop.edu.
Source: American journal of human genetics [Am J Hum Genet] 2026 Apr 02; Vol. 113 (4), pp. 736-753. Date of Electronic Publication: 2026 Mar 25.
Publication Type: Journal Article
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
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  Data: BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
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Department of Clinical Genetics, Erasmus MC University Medical Center, 3000 CA Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Disanza+B%22">Disanza B</searchLink>; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Hsiao-Sánchez+N%22">Hsiao-Sánchez N</searchLink>; Division of Neurosciences & Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Pizzino+A%22">Pizzino A</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Muirhead+K%22">Muirhead K</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Bonkowsky+JL%22">Bonkowsky JL</searchLink>; 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Intergen Genetics and Rare Diseases Diagnosis Center, Ankara 06510, Turkey.<br /><searchLink fieldCode="AU" term="%22Oztürk+H%22">Oztürk H</searchLink>; Intergen Genetics and Rare Diseases Diagnosis Center, Ankara 06510, Turkey.<br /><searchLink fieldCode="AU" term="%22Mojarrad+M%22">Mojarrad M</searchLink>; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 91771, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Genetic Foundation of Khorasan Razavi, Mashhad 91771, Iran.<br /><searchLink fieldCode="AU" term="%22Alerasool+M%22">Alerasool M</searchLink>; Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 91771, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Genetic Foundation of Khorasan Razavi, Mashhad 91771, Iran.<br /><searchLink fieldCode="AU" term="%22Sheikhani+S%22">Sheikhani S</searchLink>; Pediatric Department, Valiasr Hospital, Birjand University of Medical Sciences, Birjand 97179 64151, Iran.<br /><searchLink fieldCode="AU" term="%22Jabbar+HK%22">Jabbar HK</searchLink>; Department of Paediatrics, Al-Sayyab Teaching Hospital, Basrah 61030, Iraq.<br /><searchLink fieldCode="AU" term="%22Issa+AH%22">Issa AH</searchLink>; Department of Neurology, University of Basrah, Basrah 61004, Iraq.<br /><searchLink fieldCode="AU" term="%22Houlden+H%22">Houlden H</searchLink>; Department of Neuromuscular Diseases, UCL Institute of Neurology, WC1N 3BG London, UK.<br /><searchLink fieldCode="AU" term="%22Zonic+E%22">Zonic E</searchLink>; CENTOGENE GmbH, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Barakat+TS%22">Barakat TS</searchLink>; Department of Clinical Genetics, Erasmus MC University Medical Center, 3000 CA Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Tripolski+K%22">Tripolski K</searchLink>; CENTOGENE GmbH, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Romito+A%22">Romito A</searchLink>; CENTOGENE GmbH, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Teferedegn+E%22">Teferedegn E</searchLink>; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Vossough+A%22">Vossough A</searchLink>; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Radiology, Perelmann School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Whitehead+MT%22">Whitehead MT</searchLink>; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Radiology, Perelmann School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Bhoj+E%22">Bhoj E</searchLink>; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; 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CENTOGENE GmbH, 18055 Rostock, Germany.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Diseases, UCL Institute of Neurology, WC1N 3BG London, UK.<br /><searchLink fieldCode="AU" term="%22Bonifacino+JS%22">Bonifacino JS</searchLink>; Division of Neurosciences & Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.<br /><searchLink fieldCode="AU" term="%22Vanderver+A%22">Vanderver A</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: vandervera@chop.edu.
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