Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1622-1626

  Johansson, Stefan ^a,b   Berland, Siren ^a   Gradek, Gyri Aasland ^a   Bongers, Ernie ^c   de Leeuw, Nicole ^c   Pfundt, Rolph ^c   Fannemel, Madeleine ^d   Rødningen, Olaug ^d   Brendehaug, Atle ^a   Haukanes, Bjørn Ivar ^a   Hovland, Randi ^a   Helland, Gunnar ^e   Houge, Gunnar ^a  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BERGEN   (Norway)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^e Levanger Hospital   (Norway)

Author keywords

Cleft lip; Cleft palate; Intellectual disability; MEIS2

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; CHROMOSOME SIZE; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE PREDISPOSITION; DISEASE SEVERITY; FEMALE; GENE; GENE DELETION; GENE DISRUPTION; GENE DUPLICATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; LEARNING DISORDER; MALE; MEIS2 GENE; MOTOR DEVELOPMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; CHROMOSOME ABERRATION; COMPARATIVE GENOMIC HYBRIDIZATION; DNA SEQUENCE; FACIES; GENETICS; LEARNING DISORDERS; PHENOTYPE; YOUNG ADULT;

HOMEODOMAIN PROTEIN; MEIS2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CLEFT LIP; CLEFT PALATE; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HAPLOINSUFFICIENCY; HOMEODOMAIN PROTEINS; HUMANS; LEARNING DISORDERS; MALE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84902548271     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36498     Document Type: Article

References (17)

1. Agoston Z, Schulte D. 2009. Meis2 competes with the Groucho co-repressor Tle4 for binding to Otx2 and specifies tectal fate without induction of a secondary midbrain-hindbrain boundary organizer. Development 136:3311-3322.
2. Beaty TH, Murray JC, Marazita ML, Munger RG, Ruczinski I, Hetmanski JB, Liang KY, Wu T, Murray T, Fallin MD, Redett RA, Raymond G, Schwender H, Jin SC, Cooper ME, Dunnwald M, Mansilla MA, Leslie E, Bullard S, Lidral AC, Moreno LM, Menezes R, Vieira AR, Petrin A, Wilcox AJ, Lie RT, Jabs EW, Wu-Chou YH, Chen PK, Wang H, Ye X, Huang S, Yeow V, Chong SS, Jee SH, Shi B, Christensen K, Melbye M, Doheny KF, Pugh EW, Ling H, Castilla EE, Czeizel AE, Ma L, Field LL, Brody L, Pangilinan F, Mills JL, Molloy AM, Kirke PN, Scott JM, Arcos-Burgos M, Scott AF. 2010. A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nat Genet 42:525-529.
3. Bjerke GA, Hyman-Walsh C, Wotton D. 2011. Cooperative transcriptional activation by Klf4, Meis2, and Pbx1. Mol Cell Biol 31:3723-3733.
4. Capdevila J, Tsukui T, Rodriquez Esteban C, Zappavigna V, Izpisua Belmonte JC. 1999. Control of vertebrate limb outgrowth by the proximal factor Meis2 and distal antagonism of BMPs by Gremlin. Mol Cell 4:839-849.
5. Chen CP, Lin SP, Tsai FJ, Chern SR, Lee CC, Wang W. 2008. A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay. Eur J Med Genet 51:368-372.
6. Conte I, Carrella S, Avellino R, Karali M, Marco-Ferreres R, Bovolenta P, Banfi S. 2010. miR-204 is required for lens and retinal development via Meis2 targeting. Proc Natl Acad Sci U S A 107:15491-15496.
7. Crowley MA, Conlin LK, Zackai EH, Deardorff MA, Thiel BD, Spinner NB. 2010. Further evidence for the possible role of MEIS2 in the development of cleft palate and cardiac septum. Am J Med Genet A 152A:1326-1327.
8. Engstrom PG, Fredman D, Lenhard B. 2008. Ancora: A web resource for exploring highly conserved noncoding elements and their association with developmental regulatory genes. Genome Biol 9:R34.
9. Erdogan F, Ullmann R, Chen W, Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach A. 2007. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am J Med Genet A 143:172-178.
10. Heine P, Dohle E, Bumsted-O'Brien K, Engelkamp D, Schulte D. 2008. Evidence for an evolutionary conserved role of homothorax/Meis1/2 during vertebrate retina development. Development 135:805-811.
11. Oulad-Abdelghani M, Chazaud C, Bouillet P, Sapin V, Chambon P, Dolle P. 1997. Meis2, a novel mouse Pbx-related homeobox gene induced by retinoic acid during differentiation of P19 embryonal carcinoma cells. Dev Dyn 210:173-183.
12. Paige SL, Thomas S, Stoick-Cooper CL, Wang H, Maves L, Sandstrom R, Pabon L, Reinecke H, Pratt G, Keller G, Moon RT, Stamatoyannopoulos J, Murry CE. 2012. A temporal chromatin signature in human embryonic stem cells identifies regulators of cardiac development. Cell 151:221-232.
13. Roberti MC, Surace C, Digilio MC, D'Elia G, Sirleto P, Capolino R, Lombardo A, Tomaiuolo AC, Petrocchi S, Angioni A. 2011. Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome. Orphanet J Rare Dis 6:17.
14. Shim S, Kim Y, Shin J, Kim J, Park S. 2007. Regulation of EphA8 gene expression by TALE homeobox transcription factors during development of the mesencephalon. Mol Cell Biol 27:1614-1630.
15. Vennemann A, Agoston Z, Schulte D. 2008. Differential and dose-dependent regulation of gene expression at the mid-hindbrain boundary by Ras-MAP kinase signaling. Brain Res 1206:33-43.
16. Waskiewicz AJ, Rikhof HA, Hernandez RE, Moens CB. 2001. Zebrafish Meis functions to stabilize Pbx proteins and regulate hindbrain patterning. Development 128:4139-4151.
17. Zhang X, Friedman A, Heaney S, Purcell P, Maas RL. 2002. Meis homeoproteins directly regulate Pax6 during vertebrate lens morphogenesis. Genes Dev 16:2097-2107.