Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

American Journal of Human Genetics
Rikke S MøllerVera M Kalscheuer

Abstract

We have identified and characterized two unrelated patients with prenatal onset of microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and febrile seizures/epilepsy who both carry a de novo balanced translocation that truncates the DYRK1A gene at chromosome 21q22.2. DYRK1A belongs to the dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family, which is highly conserved throughout evolution. Given its localization in both the Down syndrome critical region and in the minimal region for partial monosomy 21, the gene has been studied intensively in animals and in humans, and DYRK1A has been proposed to be involved in the neurodevelopmental alterations associated with these syndromes. In the present study, we show that truncating mutations of DYRK1A result in a clinical phenotype including microcephaly.

References

May 10, 1979·Human Genetics·Y YamamotoY Kuroki
Sep 1, 1994·Journal of Neuropathology and Experimental Neurology·J A Golden, B T Hyman
Aug 23, 2002·Molecular and Cellular Biology·Vassiliki FotakiMaria L Arbonés
Sep 3, 2005·Neurobiology of Disease·R Benavides-PiccioneG N Elston
Nov 29, 2005·Gene·Oleksii NikolaienkoKatheleen Gardiner
Feb 4, 2006·Neurobiology of Disease·Kyoung-Jin AhnWoo-Joo Song
Oct 7, 2006·The Journal of Biological Chemistry·Claudia CarissimiLivio Pellizzoni
Dec 6, 2006·Neuroscience Letters·Wieslaw K DowjatJerzy Wegiel
Jan 24, 2007·Journal of Medical Genetics·Anne RonanGillian Turner

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Citations

Apr 7, 2009·Human Genetics·Geert Vandeweyer, R Frank Kooy
Dec 3, 2009·European Journal of Human Genetics : EJHG·Wei ChenHans-Hilger Ropers
Aug 21, 2013·Nature Cell Biology·Joffrey L DegoutinKieran F Harvey
Mar 21, 2013·Human Molecular Genetics·Ariadna LagunaMaria L Arbonés
Feb 2, 2012·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·Ahmed F YousefJoe S Mymryk
Oct 23, 2013·PloS One·Nathan LuebberingVaughn Cleghon
Mar 20, 2010·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Odessa YabutGabriella D'Arcangelo
Jan 20, 2012·Cancer Informatics·Hong LiuChang S Hahn
Jan 7, 2014·Trends in Neurosciences·Niklas KrummEvan E Eichler
Aug 18, 2009·Cellular and Molecular Life Sciences : CMLS·Joongkyu ParkKwang Chul Chung
Dec 16, 2011·Trends in Neurosciences·Tarik F Haydar, Roger H Reeves
Feb 2, 2012·Neurobiology of Disease·Fayçal GuedjJean M Delabar
Nov 14, 2012·Journal of Neuropathology and Experimental Neurology·Karol DowjatYu-Wen Hwang
Aug 8, 2009·Neurobiology of Disease·Glòria ArquéMara Dierssen
Feb 25, 2015·Molecular Psychiatry·B W M van BonE E Eichler
Sep 13, 2015·Pharmacology, Biochemistry, and Behavior·Megan StringerCharles R Goodlett
Jan 19, 2012·Journal of Neuroscience Research·Bozena Mazur-KoleckaJanusz Frackowiak
Apr 5, 2013·Birth Defects Research. Part A, Clinical and Molecular Teratology·Jeffrey P SolzakRandall J Roper
Jan 5, 2011·American Journal of Medical Genetics. Part a·Toshiyuki YamamotoKatsumi Imai
Feb 8, 2011·Clinical Genetics·B W M van BonB B A de Vries
Dec 4, 2010·The FEBS Journal·Walter Becker, Wolfgang Sippl
Dec 16, 2010·The FEBS Journal·Francisco J Tejedor, Barbara Hämmerle
Feb 14, 2015·Pediatrics International : Official Journal of the Japan Pediatric Society·Shuichi ShimakawaHiroshi Tamai
May 25, 2015·Revue neurologique·G Lesca, C Depienne
Apr 30, 2015·European Journal of Human Genetics : EJHG·Lucas M BronickiArthur S Aylsworth
May 1, 2012·Neuron·Ivan IossifovMichael Wigler
May 8, 2014·Neurobiology of Disease·Benoit SouchetJean Maurice Delabar
Dec 17, 2008·Developmental Cell·Ariadna LagunaMaria L Arbonés
Mar 26, 2014·Neuroscience and Biobehavioral Reviews·Monique van der VoetAnnette Schenck
Oct 23, 2008·American Journal of Human Genetics·Jon Ortiz-AbaliaCristina Fillat
Jan 18, 2015·European Journal of Medical Genetics·Usha R DuttaDietmar Schlote

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