换一批Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
第一作者：
Maya,Chopra
第一单位：
Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris 75015, France; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: maya.chopra@childrens.harvard.edu.
作者：
Maya,Chopra [1]
;
Meriel,McEntagart [2]
;
Jill,Clayton-Smith [3]
;
Konrad,Platzer [4]
;
Anju,Shukla [5]
;
Katta M,Girisha [5]
;
Anupriya,Kaur [6]
;
Parneet,Kaur [5]
;
Rolph,Pfundt [7]
;
Hermine,Veenstra-Knol [8]
;
Grazia M S,Mancini [9]
;
Gerarda,Cappuccio [10]
;
Nicola,Brunetti-Pierri [10]
;
Fanny,Kortüm [11]
;
Maja,Hempel [11]
;
Jonas,Denecke [11]
;
Anna,Lehman [12]
;
CAUSES Study [12]
;
Tjitske,Kleefstra [7]
;
Kyra E,Stuurman [9]
;
Martina,Wilke [9]
;
Michelle L,Thompson [13]
;
E Martina,Bebin [14]
;
Emilia K,Bijlsma [15]
;
Mariette J V,Hoffer [15]
;
Cacha,Peeters-Scholte [16]
;
Anne,Slavotinek [17]
;
William A,Weiss [18]
;
Tiffany,Yip [19]
;
Ugur,Hodoglugil [19]
;
Amy,Whittle [20]
;
Janette,diMonda [21]
;
Juanita,Neira [21]
;
Sandra,Yang [22]
;
Amelia,Kirby [23]
;
Hailey,Pinz [24]
;
Rosan,Lechner [9]
;
Frank,Sleutels [9]
;
Ingo,Helbig [25]
;
Sarah,McKeown [26]
;
Katherine,Helbig [26]
;
Rebecca,Willaert [22]
;
Jane,Juusola [22]
;
Jennifer,Semotok [22]
;
Medard,Hadonou [27]
;
John,Short [27]
;
Genomics England Research Consortium [28]
;
Naomi,Yachelevich [29]
;
Sajel,Lala [30]
;
Alberto,Fernández-Jaen [31]
;
Janvier Porta,Pelayo [32]
;
Chiara,Klöckner [4]
;
Susanne B,Kamphausen [33]
;
Rami,Abou Jamra [4]
;
Maria,Arelin [34]
;
A Micheil,Innes [35]
;
Anni,Niskakoski [36]
;
Sam,Amin [37]
;
Maggie,Williams [38]
;
Julie,Evans [38]
;
Sarah,Smithson [37]
;
Damian,Smedley [39]
;
Anna,de Burca [40]
;
Usha,Kini [40]
;
Martin B,Delatycki [41]
;
Lyndon,Gallacher [41]
;
Alison,Yeung [41]
;
Lynn,Pais [42]
;
Michael,Field [43]
;
Ellenore,Martin [43]
;
Perrine,Charles [44]
;
Thomas,Courtin [45]
;
Boris,Keren [45]
;
Maria,Iascone [46]
;
Anna,Cereda [47]
;
Gemma,Poke [48]
;
Véronique,Abadie [49]
;
Christel,Chalouhi [49]
;
Padmini,Parthasarathy [50]
;
Benjamin J,Halliday [50]
;
Stephen P,Robertson [50]
;
Stanislas,Lyonnet [51]
;
Jeanne,Amiel [51]
;
Christopher T,Gordon [52]
作者单位：
Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris 75015, France; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: maya.chopra@childrens.harvard.edu.
[1]
Department of Medical Genetics, St George's University Hospitals NHS FT, London SW17 ORE, UK.
[2]
Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9WL, UK.
[3]
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04129, Germany.
[4]
Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India.
[5]
Genetics Metabolic Unit, Department of Pediatrics, PGIMER, Chandigarh 160012, India.
[6]
Department of Human Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, the Netherlands.
[7]
Department of Genetics University of Groningen, University Medical Centre Groningen, Groningen CB50, the Netherlands.
[8]
Department of Clinical Genetics, Erasmus Medical Center, University Medical Center Rotterdam, Dr Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
[9]
Department of Translational Medicine, Section of Pediatrics, Federico II University of Naples, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy.
[10]
Institute of Human Genetics and Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany.
[11]
Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.
[12]
HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
[13]
University of Alabama at Birmingham, Department of Neurology and Pediatrics, Birmingham, AL 35294, USA.
[14]
Department of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands.
[15]
Department of Neurology, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands.
[16]
Division of Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94158, USA.
[17]
Department of Neurology, University of California, San Francisco, San Francisco, CA 94110, USA.
[18]
Institute for Human Genetics, University of California, San Francisco, San Francisco, CA 94143, USA.
[19]
Department of Pediatrics, Zuckerberg San Francisco General, San Francisco, UCSF, San Francisco, CA 94143, USA.
[20]
Department of Human Genetic, Emory University, Atlanta, GA 30322, USA.
[21]
Clinical Genomics Program, GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
[22]
Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.
[23]
Division of Medical Genetics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA.
[24]
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19014, USA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA 19104, USA.
[25]
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19014, USA.
[26]
St. George's Genomics Service, St George's University Hospitals NHS FT, London SW17 ORE, UK.
[27]
Genomics England, London EC1M 6BQ, UK; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.
[28]
NYU Clinical Genetics Services, 145 E 32(nd) St PH, New York, NY 10016, USA.
[29]
Division of Clinical Genetics, Nickelaus Children's Health System, 3100 SW 62(nd) Avenue, Coral Gables, FL 33155, USA.
[30]
Department of Pediatric Neurology. Hospital Universitario Quirónsalud, Madrid and Universidad Complutense, Madrid 28224, Spain.
[31]
Genologica Center, Málaga 29016, Spain.
[32]
Institute of Human Genetics, University Hospital Magdeburg, Magdeburg 39120, Germany.
[33]
Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig 04129, Germany.
[34]
Department of Medical Genetics and Albert Children's Hospital Research Institute, Cumming School of Medicine, Calgary, AB T3B 6A8, Canada.
[35]
Blueprint Genetics, Keilaranta 16 A-B, 02150 Espoo, Finland.
[36]
WE Genomic Medicine Centre, University Hospitals Bristol NHS Foundation Trust, Bristol B52 8EG, UK.
[37]
Bristol Genetics Laboratory, North Bristol NHS Trust, Pathology Sciences Building, Southmead Hospital, Bristol BS10 5NB, UK.
[38]
William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
[39]
Oxford Centre for Genomic Medicine, Oxford and Spires Cleft Centre, Oxford OX3 9DU, UK.
[40]
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville, VIC 3052, Australia.
[41]
Broad Institute - Center for Mendelian Genomics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
[42]
NSW Genetics of Learning Disability Service, Waratah, NSW 2298, Australia.
[43]
Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière, AP-HP, Sorbonne Université, Paris 75013, France.
[44]
Département de génétique, Hôpital Pitié-Salpêtrière, AP-HP, Sorbonne Université, Paris 75013, France.
[45]
Medical Genetics Laboratory, ASST Papa Giovanni XXIII, Bergamo 24127, Italy.
[46]
Pediatric Department, ASST Papa Giovanni XXIII, Bergamo 24127, Italy.
[47]
Genetic Health Service, New Zealand, Central Hub Wellington Hospital, Wellington 6242, New Zealand.
[48]
Department of Paediatrics, Necker-Enfants Malades University Hospital, AP-HP, Centre de référence du syndrome de Pierre Robin et troubles de succion-déglutition congénitaux (SPRATON), Paris 75015, France.
[49]
Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand.
[50]
Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris 75015, France; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France.
[51]
Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France. Electronic address: chris.gordon@inserm.fr.
[52]
医学主题词
青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);颅面骨畸形(Craniofacial Abnormalities);女(雌)性(Female);单倍剂量不足(Haploinsufficiency);杂合子(Heterozygote);人类(Humans);婴儿(Infant);语言发展障碍(Language Development Disorders);男(雄)性(Male);系谱(Pedigree);表型(Phenotype);RNA结合蛋白质类(RNA-Binding Proteins);信号传导(Signal Transduction);综合征(Syndrome);青年人(Young Adult)
DOI
10.1016/j.ajhg.2021.04.007
PMID
33909992
发布时间
2022-01-07
- 浏览6
American journal of human genetics
American journal of human genetics
1138-1150页
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