ArticleAmerican journal of human genetics2018
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
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Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 58 citations in OpenAlex.
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Authors and funding
40 authors at 18 institutions in 9 countries.
Lucie GueneauCenter for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Richard J FishDepartment of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland.
Hanan E ShamseldinDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Norine VoisinCenter for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Frédéric Tran Mau-ThemInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR 7104, INSERM Unité 964, 67404 Illkirch Cedex, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Egle PreiksaitieneDepartment of Human and Medical Genetics, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.
Glen R MonroeDepartment of Genetics and Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands.
Angeline LaiKK Women's and Children's Hospital, Singapore 229899, Singapore; Lee Kong Chian School of Medicine, Nanyang Technological University-Imperial College London, Singapore 639798, Singapore.
Audrey PutouxService de Génétique, Hospices Civils de Lyon, 69002 Lyon, France; Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, 69675 Bron Cedex, France.
Fabienne AlliasDépartement de Pathologie, Hospices Civils de Lyon, 69002 Lyon, France.
Qamariya AmbusaidiDepartment of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Laima AmbrozaityteDepartment of Human and Medical Genetics, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.
Loreta CimbalistienėDepartment of Human and Medical Genetics, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.
Julien DelafontaineSwiss Institute of Bioinformatics (SIB), 1015 Lausanne, Switzerland.
Nicolas GuexSwiss Institute of Bioinformatics (SIB), 1015 Lausanne, Switzerland.
Mais HashemDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Wesam KurdiDepartment of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Saumya Shekhar JamuarKK Women's and Children's Hospital, Singapore 229899, Singapore; Duke-NUS Medical School, Singapore 169857, Singapore.
Lim J YingKK Women's and Children's Hospital, Singapore 229899, Singapore.
Carine BonnardInstitute of Medical Biology, A(∗)STAR, Singapore 138648, Singapore.
Tommaso PippucciSant'Orsola-Malpighi Hospital, Medical Genetics Unit, Pavillon 11, 2nd floor, Via Massarenti 9, 40138 Bologna, Italy.
Sylvain PradervandCenter for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Swiss Institute of Bioinformatics (SIB), 1015 Lausanne, Switzerland.
Bernd RoechertSwiss Institute of Bioinformatics (SIB), 1015 Lausanne, Switzerland.
Peter M van HasseltDepartment of Genetics and Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands.
Michaël WiederkehrCenter for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Caroline F WrightDeciphering Developmental Disorders (DDD) Study, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
DDD Study
Ioannis XenariosCenter for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Swiss Institute of Bioinformatics (SIB), 1015 Lausanne, Switzerland.
Gijs van HaaftenDepartment of Genetics and Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands.
Charles Shaw-SmithDepartment of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX1 2ED, UK.
Erica M SchindewolfCenter for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Marguerite Neerman-ArbezDepartment of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland.
Damien SanlavilleService de Génétique, Hospices Civils de Lyon, 69002 Lyon, France; Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, 69675 Bron Cedex, France.
Gaëtan LescaService de Génétique, Hospices Civils de Lyon, 69002 Lyon, France; Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, 69675 Bron Cedex, France.
Laurent GuibaudCentre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, 69675 Bron Cedex, France; Département d'imagerie pédiatrique et fœtale, Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital Femme Mère Enfant, Université Claude Bernard Lyon 1, 69677 Bron Cedex, France.
Bruno ReversadeInstitute of Medical Biology, A(∗)STAR, Singapore 138648, Singapore; Institute of Molecular and Cell Biology (IMCB), A(∗)STAR (Agency for Science, Technology and Research), 61 Biopolis Drive, Singapore 138673, Singapore; Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore; Amsterdam Reproduction & Development, Academic Medical Centre & VU University Medical Center, 1105 AZ Amsterdam, the Netherlands.
Jamel ChellyInstitut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR 7104, INSERM Unité 964, 67404 Illkirch Cedex, France; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France.
Vaidutis KučinskasDepartment of Human and Medical Genetics, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.
Fowzan S AlkurayaDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12371, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.
Alexandre ReymondCenter for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland. Electronic address: alexandre.reymond@unil.ch.
SIB Swiss Institute of Bioinformatics · CHKing Faisal Specialist Hospital & Research Centre · SAUniversity of Lausanne · CHVilnius University · LTCentre National de la Recherche Scientifique · FRUniversity Medical Center Utrecht · NLAgency for Science, Technology and Research · SGHospices Civils de Lyon · FRKK Women's and Children's Hospital · SGUniversity of Geneva · CHChildren's Hospital of Philadelphia · USHôpital Femme Mère Enfant · FRIRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola · ITKing Abdulaziz City for Science and Technology · SANanyang Technological University · SGRoyal Devon & Exeter NHS Foundation Trust · GBUniversité Claude Bernard Lyon 1 · FRWellcome Sanger Institute · GB
Funding
Wellcome Trust
Abstract
Whole-exome and targeted sequencing of 13 individuals from 10 unrelated families with overlapping clinical manifestations identified loss-of-function and missense variants in KIAA1109 allowing delineation of an autosomal-recessive multi-system syndrome, which we suggest to name Alkuraya-Kučinskas syndrome (MIM 617822). Shared phenotypic features representing the cardinal characteristics of this syndrome combine brain atrophy with clubfoot and arthrogryposis. Affected individuals present with cerebral parenchymal underdevelopment, ranging from major cerebral parenchymal thinning with lissencephalic aspect to moderate parenchymal rarefaction, severe to mild ventriculomegaly, cerebellar hypoplasia with brainstem dysgenesis, and cardiac and ophthalmologic anomalies, such as microphthalmia and cataract. Severe loss-of-function cases were incompatible with life, whereas those individuals with milder missense variants presented with severe global developmental delay, syndactyly of 2
Indexed as
AdolescentAnimalsArthrogryposisBrainChildFemaleGene Knockdown TechniquesHumansInfantInfant, NewbornMagnetic Resonance ImagingMaleMutationPedigreeProteinsZebrafishKIAA1109 protein, humanProteinsZebrafish Proteinsarthrogryposisbrain malformationscerebellar hypoplasiaclubfoothydrocephalywhole-exome sequencing
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