Loss-of-function mutations in Euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

American Journal of Human Genetics

Volumn 79, Issue 2, 2006, Pages 370-377

  Kleefstra, Tjitske ^a   Brunner, Han G ^a   Amiel, Jeanne ^b   Oudakker, Astrid R ^a   Nillesen, Willy M ^a   Magee, Alex ^c   Geneviève, David ^b   Cormier Daire, Valérie ^b   Van Esch, Hilde ^d   Fryns, Jean Pierre ^d   Hamel, Ben C J ^a   Sistermans, Erik A ^a   De Vries, Bert B A ^a   Van Bokhoven, Hans ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE METHYLTRANSFERASE;

9Q SUBTELOMERIC DELETION SYNDROME; ADOLESCENT; ADULT; ANTEVERTED NOSTRIL; ARTICLE; BEHAVIOR DISORDER; BRACHYCEPHALY; CHILD; CHROMOSOME 9Q; CHROMOSOME DELETION; CHROMOSOME MUTATION; CHROMOSOME SIZE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DELETION MUTANT; EHMT1 GENE; FACE MALFORMATION; FRAMESHIFT MUTATION; GENE; GENETIC DISORDER; HUMAN; HYPERTELORISM; LIP MALFORMATION; MACROGLOSSIA; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGNATHIA; SYNDROME; SYNORPHRYS; TELOMERE;

EID: 33746563985     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/505693     Document Type: Article

References (28)

1. Harada N, Hatchwell E, Okamoto N, Tsukahara M, Kurosawa K, Kawame H, Kondoh T, Ohashi H, Tsukino R, Kondoh Y, Shimokawa O, Ida T, Nagai T, Fukushima Y, Yoshiura K, Niikawa N, Matsumoto N (2004) Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation. J Med Genet 41:130-136
2. Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N (2004) A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome. J Hum Genet 49:440-444
3. Iwakoshi M, Okamoto N, Harada N, Nakamura T, Yamamori S, Fujita H, Niikawa N, Matsumoto N (2004) 9q34.3 Deletion syndrome in three unrelated children. Am J Med Genet A 126:278-283
4. Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjold M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID (2004) Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A 128:340-351
5. Neas KR, Smith JM, Chia N, Huseyin S, St. Heaps L, Peters G, Sholler G, Tzioumi D, Sillence DO, Mowat D (2005) Three patients with terminal deletions within the subtelomeric region of chromosome 9q. Am J Med Genet A 132:425-430
6. Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H (2005) Disruption of the gene euchromatin histone methyl transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet 42:299-306
7. Kleefstra T, Koolen DA, Nillesen WM, de Leeuw N, Hamel BC, Veltman JA, Sistermans EA, van Bokhoven H, van Ravenswaay C, de Vries BB (2006) Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome. Am J Med Genet A 140:618-623
8. Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy JG, Scaglia F, Stankiewicz P, Lupski JR (2005) Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet 42:328-335
9. Koolen DA, Nillesen WM, Versteeg MH, Merkx GF, Knoers NV, Kets M, Vermeer S, van Ravenswaaij CM, de Kovel CG, Brunner HG, Smeets D, de Vries BB, Sistermans EA (2004) Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet 41:892-899
10. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
11. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30:e57
12. Baker KE, Parker R (2004) Nonsense-mediated mRNA decay: terminating erroneous gene expression. Curr Opin Cell Biol 16:293-299
13. Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL (2005) Subtelomere FISH analysis of 11,688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet (http://jmg .bmjjournals.com/cgi/rapidpdf/jmg.2005.036350v1) (electronically published September 30, 2005) (accessed May 25, 2006)
14. Lachner M, Jenuwein T (2002) The many faces of histone lysine methylation. Curr Opin Cell Biol 14:286-298
15. Lachner M, O'Sullivan RJ, Jenuwein T (2003) An epigenetic road map for histone lysine methylation. J Cell Sci 116:2117-2124
16. Richards EJ, Elgin SC (2002) Epigenetic codes for heterochromatin formation and silencing: Founding up the usual suspects. Cell 108:489-500
17. Ogawa H, Ishiguro K, Gaubatz S, Livingston DM, Nakatani Y (2002) A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells. Science 296:1132-1136
18. Roopra A, Qazi R, Schoenike B, Daley TJ, Morisson JF (2004) localized domains of G9a-mediated histone methylation are required for silencing neuronal genes. Mol Cell 14:727-738
19. Gibbons RJ, Higgs DR (2000) Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet 97:204-212
20. Cardoso C, Timsit S, Villard L, Khrestchatisky M, Fontes M, Colleaux L (1998) Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein. Hum Mol Genet 7:679-684
21. Shahbazian MD, Zoghbi HY (2002) Rett syndrome and MeCP2: linking epigenetics and neuronal function. Am J Hum Genet 71:1259-1272
22. Schultz DC, Ayyanathan K, Negorev D, Maul GG, Rauscher FJ 3rd (2002) SETDB1: a novel KAP-1-associated histone H3, lysine 9-specific methyltransferase that contributes to HP1-mediated silencing of euchromatic genes by KRAB zinc-finger proteins. Genes Dev 16:919-932
23. Shoichet SA, Hoffmann K, Menzel C, Trautmann U, Moser B, Hoeltzenbein M, Echenne B, Partington M, Van Bokhoven H, Moraine C, Fryns JP, Chelly J, Rott HD, Ropers HH, Kalscheuer VM (2003) Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet 73:1341-1354
24. Kleefstra T, Yntema HG, Oudakker AR, Banning MJ, Kalscheuer VM, Chelly J, Moraine C, Ropers HH, Fryns JP, Janssen IM, Sistermans EA, Nillesen WN, de Vries LB, Hamel BC, van Bokhoven H (2004) Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation. J Med Genet 41:394-399
25. Lugtenberg D, Yntema HG, Banning MJ, Oudakker AR, Firth HV, Willatt L, Raynaud M, Kleefstra T, Fryns JP, Ropers HH, Chelly J, Moraine C, Gecz J, Reeuwijk J, Nabuurs SB, de Vries BB, Hamel BC, de Brouwer AP, Bokhoven H (2006) ZNF674: a new Kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet 78:265-278
26. Tachibana M, Ueda J, Fukuda M, Takeda N, Ohta T, Iwanari H, Sakihama T, Kodama T, Hamakubo T, Shinkai Y (2005) Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9. Genes Dev 19:815-826
27. Tachibana M, Sugimoto K, Nozaki M, Ueda J, Ohta T, Ohki M, Fukuda M, Takeda N, Niida H, Kato H, Shinkai Y (2002) Histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis. Genes Dev 16:1779-11791
28. Xin Z, Tachibana M, Guggiari M, Heard E, Shinkai Y, Wagstaff J (2003) Role of histone methyltransferase G9a in CpG methylation of the Prader-Willi syndrome imprinting center. J Biol Chem 278:14996-15000