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Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

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Title: Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Authors: von der Lippe C; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Prescott TE; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Burke KB; All Wales Medical Genomics Service, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK., Sansbury FH; All Wales Medical Genomics Service, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK., Baptista J; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Fry AE; All Wales Medical Genomics Service, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK., Lim D; Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Jolles S; Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, UK., Evans J; Department of Paediatrics, University Hospital of Wales, Cardiff, UK., Osio D; Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Macmillan C; Department of Pediatrics, University of Chicago, Chicago, Illinois, USA., Bruno I; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Faletra F; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Climent S; Pediatrics Service, Hospital General d'Ontinyent, Ontinyent, Spain., Urreitzi R; Department of Clinical Biochemistry and CIBERER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Hoenicka J; Laboratory of Neurogenetics and Molecular Medicine - IPER and CIBERER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Palau F; Laboratory of Neurogenetics and Molecular Medicine - IPER and CIBERER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Genetic Medicine - IPER, Hospital Sant Joan de Déu, Barcelona, Spain.; Hospital Clínic and Division of Pediatrics, School of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain., Cohen ASA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; Kansas City School of Medicine, University of Missouri, Kansas City, Missouri, USA., Engleman K; Kansas City School of Medicine, University of Missouri, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Zhou D; Kansas City School of Medicine, University of Missouri, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Amudhavalli SM; Kansas City School of Medicine, University of Missouri, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Jeanne M; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; UMR1253, iBrain, University of Tours, INSERM, Tours, France.; Excellence Center in Autism and Neurodevelopmental Disorders, Centre Hospitalier Régional Universitaire, Tours, France., Bonnet-Brilhault F; UMR1253, iBrain, University of Tours, INSERM, Tours, France.; Excellence Center in Autism and Neurodevelopmental Disorders, Centre Hospitalier Régional Universitaire, Tours, France., Lévy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Laboratoire de Biologie Médicale Multisites SeqOIA, Paris, France., Drunat S; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Laboratoire de Biologie Médicale Multisites SeqOIA, Paris, France., Derive N; Laboratoire de Biologie Médicale Multisites SeqOIA, Paris, France., Haug MG; Department of Medical Genetics, St. Olavs University Hospital, Trondheim, Norway., Thorstensen WM; Department of Otolaryngology, Head and Neck Surgery, St. Olavs University Hospital, Trondheim, Norway.; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jan; Vol. 188 (1), pp. 272-282. Date of Electronic Publication: 2021 Sep 13.
Publication Type: Case Reports; Research Support, Non-U.S. Gov't; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
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  Data: <searchLink fieldCode="AU" term="%22von+der+Lippe+C%22">von der Lippe C</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Tveten+K%22">Tveten K</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Prescott+TE%22">Prescott TE</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Holla+ØL%22">Holla ØL</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Busk+ØL%22">Busk ØL</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Burke+KB%22">Burke KB</searchLink>; All Wales Medical Genomics Service, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Sansbury+FH%22">Sansbury FH</searchLink>; All Wales Medical Genomics Service, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Baptista+J%22">Baptista J</searchLink>; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Fry+AE%22">Fry AE</searchLink>; All Wales Medical Genomics Service, Cardiff and Vale University Health Board, University Hospital of Wales, Cardiff, UK.; Division of Cancer and Genetics, School of Medicine, Cardiff University, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Lim+D%22">Lim D</searchLink>; Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Jolles+S%22">Jolles S</searchLink>; Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Evans+J%22">Evans J</searchLink>; Department of Paediatrics, University Hospital of Wales, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Osio+D%22">Osio D</searchLink>; Clinical Genetics, West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Macmillan+C%22">Macmillan C</searchLink>; Department of Pediatrics, University of Chicago, Chicago, Illinois, USA.<br /><searchLink fieldCode="AU" term="%22Bruno+I%22">Bruno I</searchLink>; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Faletra+F%22">Faletra F</searchLink>; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Climent+S%22">Climent S</searchLink>; Pediatrics Service, Hospital General d'Ontinyent, Ontinyent, Spain.<br /><searchLink fieldCode="AU" term="%22Urreitzi+R%22">Urreitzi R</searchLink>; Department of Clinical Biochemistry and CIBERER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Hoenicka+J%22">Hoenicka J</searchLink>; Laboratory of Neurogenetics and Molecular Medicine - IPER and CIBERER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Palau+F%22">Palau F</searchLink>; Laboratory of Neurogenetics and Molecular Medicine - IPER and CIBERER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Genetic Medicine - IPER, Hospital Sant Joan de Déu, Barcelona, Spain.; Hospital Clínic and Division of Pediatrics, School of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Cohen+ASA%22">Cohen ASA</searchLink>; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; Kansas City School of Medicine, University of Missouri, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Engleman+K%22">Engleman K</searchLink>; Kansas City School of Medicine, University of Missouri, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Zhou+D%22">Zhou D</searchLink>; Kansas City School of Medicine, University of Missouri, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Amudhavalli+SM%22">Amudhavalli SM</searchLink>; Kansas City School of Medicine, University of Missouri, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Jeanne+M%22">Jeanne M</searchLink>; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; UMR1253, iBrain, University of Tours, INSERM, Tours, France.; Excellence Center in Autism and Neurodevelopmental Disorders, Centre Hospitalier Régional Universitaire, Tours, France.<br /><searchLink fieldCode="AU" term="%22Bonnet-Brilhault+F%22">Bonnet-Brilhault F</searchLink>; UMR1253, iBrain, University of Tours, INSERM, Tours, France.; Excellence Center in Autism and Neurodevelopmental Disorders, Centre Hospitalier Régional Universitaire, Tours, France.<br /><searchLink fieldCode="AU" term="%22Lévy+J%22">Lévy J</searchLink>; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Laboratoire de Biologie Médicale Multisites SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Drunat+S%22">Drunat S</searchLink>; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Laboratoire de Biologie Médicale Multisites SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Derive+N%22">Derive N</searchLink>; Laboratoire de Biologie Médicale Multisites SeqOIA, Paris, France.<br /><searchLink fieldCode="AU" term="%22Haug+MG%22">Haug MG</searchLink>; Department of Medical Genetics, St. Olavs University Hospital, Trondheim, Norway.<br /><searchLink fieldCode="AU" term="%22Thorstensen+WM%22">Thorstensen WM</searchLink>; Department of Otolaryngology, Head and Neck Surgery, St. Olavs University Hospital, Trondheim, Norway.; Department of Neuromedicine and Movement Science, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.
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