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PI4KIII\u03b1\u2019s role in PI4P generation requires its assembly into a heterotetrameric complex with EFR3, TTC7 and FAM126. Sequence alterations in two of these molecular partners, TTC7 (encoded by TTC7A or TCC7B) and FAM126, have been associated with a heterogeneous group of either neurological (FAM126A) or intestinal and immunological (TTC7A) conditions.<\/jats:p>\n               <jats:p>Here we show that biallelic PI4KA sequence alterations in humans are associated with neurological disease, in particular hypomyelinating leukodystrophy. In addition, affected individuals may present with inflammatory bowel disease, multiple intestinal atresia and combined immunodeficiency. Our cellular, biochemical and structural modelling studies indicate that PI4KA-associated phenotypical outcomes probably stem from impairment of PI4KIII\u03b1-TTC7-FAM126's organ-specific functions, due to defective catalytic activity or altered intra-complex functional interactions.<\/jats:p>\n               <jats:p>Together, these data define PI4KA gene alteration as a cause of a variable phenotypical spectrum and provide fundamental new insight into the combinatorial biology of the PI4KIII\u03b1-FAM126-TTC7-EFR3 molecular complex.<\/jats:p>","DOI":"10.1093\/brain\/awab313","type":"journal-article","created":{"date-parts":[[2021,8,19]],"date-time":"2021-08-19T19:23:03Z","timestamp":1629400983000},"page":"3597-3610","source":"Crossref","is-referenced-by-count":56,"title":["Biallelic <i>PI4KA<\/i> variants cause neurological, intestinal and immunological disease"],"prefix":"10.1093","volume":"144","author":[{"given":"Claire G","family":"Salter","sequence":"first","affiliation":[{"name":"RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK"},{"name":"Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiying","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Yale University School of Medicine, New Haven, CT, USA"},{"name":"Department of Cell Biology, Yale University School of Medicine, New Haven, CT, USA"},{"name":"Program in Cellular Neuroscience Neurodegeneration and Repair, Yale University School of Medicine, New Haven, CT, USA"},{"name":"Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernice","family":"Lo","sequence":"additional","affiliation":[{"name":"Research Branch, Sidra Medicine, Doha, Qatar"},{"name":"College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4784-7423","authenticated-orcid":false,"given":"Guy","family":"Helman","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, The Royal Children\u2019s Hospital, Parkville, Melbourne, Australia"},{"name":"Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9066-9151","authenticated-orcid":false,"given":"Henry","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Surgery\u00a0and Cancer, Imperial College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber","family":"McCartney","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Yale University School of Medicine, New Haven, CT, USA"},{"name":"Department of Cell Biology, Yale University School of Medicine, New Haven, CT, USA"},{"name":"Program in Cellular Neuroscience Neurodegeneration and Repair, Yale University School of Medicine, New Haven, CT, USA"},{"name":"Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0972-8818","authenticated-orcid":false,"given":"Joseph S","family":"Leslie","sequence":"additional","affiliation":[{"name":"RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Accogli","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0606-8797","authenticated-orcid":false,"given":"Monica","family":"Traverso","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Fasham","sequence":"additional","affiliation":[{"name":"RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK"},{"name":"Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua A","family":"Lees","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, Yale University School of Medicine, New Haven, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5508-4673","authenticated-orcid":false,"given":"Matteo P","family":"Ferla","sequence":"additional","affiliation":[{"name":"Wellcome Centre Human Genetics, University of Oxford, Oxford, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry A","family":"Chioza","sequence":"additional","affiliation":[{"name":"RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia","family":"Wenger","sequence":"additional","affiliation":[{"name":"New Leaf Center, Mt. Eaton, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ethan","family":"Scott","sequence":"additional","affiliation":[{"name":"New Leaf Center, Mt. Eaton, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harold E","family":"Cross","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Arizona College of Medicine, Tucson, AZ, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Crawford","sequence":"additional","affiliation":[{"name":"Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilka","family":"Warshawsky","sequence":"additional","affiliation":[{"name":"Akron Children\u2019s Hospital, Akron, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Keisling","sequence":"additional","affiliation":[{"name":"Akron Children\u2019s Hospital, Akron, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dimitris","family":"Agamanolis","sequence":"additional","affiliation":[{"name":"Akron Children\u2019s Hospital, Akron, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Ward Melver","sequence":"additional","affiliation":[{"name":"Akron Children\u2019s Hospital, Akron, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Cox","sequence":"additional","affiliation":[{"name":"West Midlands Clinical Genetics Service, Birmingham Women's and Children's Hospital, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mamoun","family":"Elawad","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Sidra Medicine, Doha, Qatar"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamas","family":"Marton","sequence":"additional","affiliation":[{"name":"West Midlands Perinatal Pathology, Birmingham Women's and Children's Hospital, Edgbaston, Birmingham, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew 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USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manish J","family":"Butte","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Immunology, Allergy, and Rheumatology, UCLA, Los Angeles, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Utkucan","family":"Acar","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Division of Immunology, Allergy, and Rheumatology, UCLA, Los Angeles, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjo S","family":"van der Knaap","sequence":"additional","affiliation":[{"name":"Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Center, VU University Amsterdam and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands"},{"name":"Department of Functional Genomics, Centre for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G Christoph","family":"Korenke","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, 26133 Oldenburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urania","family":"Kotzaeridou","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, D-69120 Heidelberg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamas","family":"Balla","sequence":"additional","affiliation":[{"name":"Section on Molecular Signal Transduction, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 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I","family":"Wolf","sequence":"additional","affiliation":[{"name":"Amsterdam Leukodystrophy Center, Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Center, VU University Amsterdam and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands"},{"name":"Department of Functional Genomics, Centre for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma L","family":"Baple","sequence":"additional","affiliation":[{"name":"RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, UK"},{"name":"Peninsula Clinical Genetics Service, Royal Devon and Exeter Hospital, Exeter, 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