The 12q14 microdeletion syndrome: Additional patients and further evidence that HMGA2 is an important genetic determinant for human height

European Journal of Medical Genetics

Volumn 52, Issue 2-3, 2009, Pages 101-107

  Buysse, Karen ^a   Reardon, William ^b   Mehta, Lakshmi ^c   Costa, Teresa ^d   Fagerstrom, Carrie ^e   Kingsbury, Daniel J ^e   Anadiotis, George ^e   McGillivray, Barbara C ^f   Hellemans, Jan ^a   de Leeuw, Nicole ^g   de Vries, Bert B A ^g   Speleman, Frank ^a   Menten, Björn ^a   Mortier, Geert ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c SCHNEIDER CHILDREN'S HOSPITAL   (United States)

^d MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^e Legacy Emanuel Children's Hospital   (United States)

^f UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

12q14 Microdeletion syndrome; Buschke Ollendorff; HMGA2; LEMD3; Mental retardation; Osteopoikilosis; Short stature

Indexed keywords

HIGH MOBILITY GROUP A2 PROTEIN;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BODY HEIGHT; BUSCHKE OLLENDORFF SYNDROME; CHILD; CHROMOSOME 12Q; CHROMOSOME DELETION; CHROMOSOME DISORDER; CHROMOSOME MICRODELETION; EXTENDED FAMILY; FAILURE TO THRIVE; FEMALE; GENE SEGREGATION; GROWTH DISORDER; HAPLOTYPE; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; LOW BIRTH WEIGHT; MALE; MENTAL DEFICIENCY; PHENOTYPE; PRESCHOOL CHILD; PROTEIN FUNCTION; SCHOOL CHILD; SHORT STATURE;

ADOLESCENT; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 12; FEMALE; GENE DELETION; GROWTH DISORDERS; HMGA2 PROTEIN; HUMANS; MALE; PHENOTYPE; SYNDROME;

EID: 67349129054     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.03.001     Document Type: Article

References (32)

1. Battista S., Fidanza V., Fedele M., Klein-Szanto A.J., Outwater E., Brunner H., Santoro M., Croce C.M., and Fusco A. The expression of a truncated HMGI-C gene induces gigantism associated with lipomatosis. Cancer Res. 59 (1999) 4793-4797
2. Buchanan J.A., and Scherer S.W. Contemplating effects of genomic structural variation. Genet. Med. 10 (2008) 639-647
3. Ciani L., and Salinas P.C. WNTs in the vertebrate nervous system: from patterning to neuronal connectivity. Nat. Rev. Neurosci. 6 (2005) 351-362
4. De Ferrari G.V., and Moon R.T. The ups and downs of Wnt signaling in prevalent neurological disorders. Oncogene 25 (2006) 7545-7553
5. Dong H., O'Brien R.J., Fung E.T., Lanahan A.A., Worley P.F., and Huganir R.L. GRIP: a synaptic PDZ domain-containing protein that interacts with AMPA receptors. Nature 386 (1997) 279-284
6. Dong H., Zhang P., Song I., Petralia R.S., Liao D., and Huganir R.L. Characterization of the glutamate receptor-interacting proteins GRIP1 and GRIP2. J. Neurosci. 19 (1999) 6930-6941
7. Friedman J.M., Baross A., Delaney A.D., Ally A., Arbour L., Asano J., Bailey D.K., Barber S., Birch P., Brown-John M., Cao M., Chan S., Charest D.L., Farnoud N., Fernandes N., Flibotte S., Go A., Gibson W.T., Holt R.A., Jones S.J., Kennedy G.C., Krzywinski M., Langlois S., Li H.I., McGillivray B.C., Nayar T., Pugh T.J., Rajcan-Separovic E., Schein J.E., Schnerch A., Siddiqui A., Van Allen M.I., Wilson G., Yong S.L., Zahir F., Eydoux P., and Marra M.A. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am. J. Hum. Genet. 79 (2006) 500-513
8. Hellemans J., Preobrazhenska O., Willaert A., Debeer P., Verdonk P.C., Costa T., Janssens K., Menten B., Van Roy N., Vermeulen S.J., Savarirayan R., Van Hul W., Vanhoenacker F., Huylebroeck D., De Paepe A., Naeyaert J.M., Vandesompele J., Speleman F., Verschueren K., Coucke P.J., and Mortier G.R. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat. Genet. 36 (2004) 1213-1218
9. Hellemans J., Debeer P., Wright M., Janecke A., Kjaer K.W., Verdonk P.C., Savarirayan R., Basel L., Moss C., Roth J., David A., De Paepe A., Coucke P., and Mortier G.R. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum. Mutat. 27 (2006) 290
10. Hodge J.C., Cuenco K.T., Huyck K.L., Somasundaram P., Panhuysen C.I., Stewart E.A., and Morton C.C. Uterine leiomyomata and decreased height: a common HMGA2 predisposition allele. Hum. Genet. (2009) [Epub ahead of print]
11. Hsieh J.C., Kodjabachian L., Rebbert M.L., Rattner A., Smallwood P.M., Samos C.H., Nusse R., Dawid I.B., and Nathans J. A new secreted protein that binds to Wnt proteins and inhibits their activities. Nature 398 (1999) 431-436
12. Hu Y.A., Gu X., Liu J., Yang Y., Yan Y., and Zhao C. Expression pattern of Wnt inhibitor factor 1(Wif1) during the development in mouse CNS. Gene Expr. Patterns 8 (2008) 515-522
13. Jurenka S.B., and Van Allen M.I. Mixed sclerosing bone dysplasia, small stature, seizure disorder, and mental retardation: a syndrome?. Am. J. Med. Genet. 57 (1995) 6-9
14. Kleefstra T., Brunner H.G., Amiel J., Oudakker A.R., Nillesen W.M., Magee A., Genevieve D., Cormier-Daire V., van Esch H., Fryns J.P., Hamel B.C., Sistermans E.A., de Vries B.B., and van Bokhoven H. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am. J. Hum. Genet. 79 (2006) 370-377
15. Koolen D.A., Vissers L.E., Pfundt R., de Leeuw N., Knight S.J., Regan R., Kooy R.F., Reyniers E., Romano C., Fichera M., Schinzel A., Baumer A., Anderlid B.M., Schoumans J., Knoers N.V., van Kessel A.G., Sistermans E.A., Veltman J.A., Brunner H.G., and de Vries B.B. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat. Genet. 38 (2006) 999-1001
16. Koolen D.A., Pfundt R., de Leeuw N., Hehir-Kwa J.Y., Nillesen W.M., Neefs I., Scheltinga I., Sistermans E., Smeets D., Brunner H.G., van Kessel A.G., Veltman J.A., and de Vries B.B. Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. Hum. Mutat. 30 3 (2009) 283-292
17. Lesnik Oberstein S.A., Kriek M., White S.J., Kalf M.E., Szuhai K., den Dunnen J.T., Breuning M.H., and Hennekam R.C. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am. J. Hum. Genet. 79 (2006) 562-566
18. Lettre G., Jackson A.U., Gieger C., Schumacher F.R., Berndt S.I., Sanna S., Eyheramendy S., Voight B.F., Butler J.L., Guiducci C., Illig T., Hackett R., Heid I.M., Jacobs K.B., Lyssenko V., Uda M., Boehnke M., Chanock S.J., Groop L.C., Hu F.B., Isomaa B., Kraft P., Peltonen L., Salomaa V., Schlessinger D., Hunter D.J., Hayes R.B., Abecasis G.R., Wichmann H.E., Mohlke K.L., and Hirschhorn J.N. Identification of ten loci associated with height highlights new biological pathways in human growth. Nat. Genet. 40 (2008) 584-591
19. Ligon A.H., Moore S.D., Parisi M.A., Mealiffe M.E., Harris D.J., Ferguson H.L., Quade B.J., and Morton C.C. Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas. Am. J. Hum. Genet. 76 (2005) 340-348
20. Mefford H.C., Sharp A.J., Baker C., Itsara A., Jiang Z., Buysse K., Huang S., Maloney V.K., Crolla J.A., Baralle D., Collins A., Mercer C., Norga K., de Ravel T., Devriendt K., Bongers E.M., de Leeuw N., Reardon W., Gimelli S., Bena F., Hennekam R.C., Male A., Gaunt L., Clayton-Smith J., Simonic I., Park S.M., Mehta S.G., Nik-Zainal S., Woods C.G., Firth H.V., Parkin G., Fichera M., Reitano S., Lo Giudice M., Li K.E., Casuga I., Broomer A., Conrad B., Schwerzmann M., Raber L., Gallati S., Striano P., Coppola A., Tolmie J.L., Tobias E.S., Lilley C., Armengol L., Spysschaert Y., Verloo P., De Coene A., Goossens L., Mortier G., Speleman F., van Binsbergen E., Nelen M.R., Hochstenbach R., Poot M., Gallagher L., Gill M., McClellan J., King M.C., Regan R., Skinner C., Stevenson R.E., Antonarakis S.E., Chen C., Estivill X., Menten B., Gimelli G., Gribble S., Schwartz S., Sutcliffe J.S., Walsh T., Knight S.J., Sebat J., Romano C., Schwartz C.E., Veltman J.A., de Vries B.B., Vermeesch J.R., Barber J.C., Willatt L., Tassabehji M., and Eichler E.E. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N. Engl. J. Med. 359 (2008) 1685-1699
21. Menten B., Buysse K., Zahir F., Hellemans J., Hamilton S.J., Costa T., Fagerstrom C., Anadiotis G., Kingsbury D., McGillivray B.C., Marra M.A., Friedman J.M., Speleman F., and Mortier G. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J. Med. Genet. 44 (2007) 264-268
22. Mumm S., Wenkert D., Zhang X., McAlister W.H., Mier R.J., and Whyte M.P. Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. J. Bone Miner. Res. 22 (2007) 243-250
23. Rogalla P., Drechsler K., Frey G., Hennig Y., Helmke B., Bonk U., and Bullerdiek J. HMGI-C expression patterns in human tissues. Implications for the genesis of frequent mesenchymal tumors. Am. J. Pathol. 149 (1996) 775-779
24. Sanna S., Jackson A.U., Nagaraja R., Willer C.J., Chen W.M., Bonnycastle L.L., Shen H., Timpson N., Lettre G., Usala G., Chines P.S., Stringham H.M., Scott L.J., Dei M., Lai S., Albai G., Crisponi L., Naitza S., Doheny K.F., Pugh E.W., Ben-Shlomo Y., Ebrahim S., Lawlor D.A., Bergman R.N., Watanabe R.M., Uda M., Tuomilehto J., Coresh J., Hirschhorn J.N., Shuldiner A.R., Schlessinger D., Collins F.S., Davey Smith G., Boerwinkle E., Cao A., Boehnke M., Abecasis G.R., and Mohlke K.L. Common variants in the GDF5-UQCC region are associated with variation in human height. Nat. Genet. 40 (2008) 198-203
25. Schiller S., Spranger S., Schechinger B., Fukami M., Merker S., Drop S.L., Troger J., Knoblauch H., Kunze J., Seidel J., and Rappold G.A. Phenotypic variation and genetic heterogeneity in Leri&Weill syndrome. Eur. J. Hum. Genet. 8 (2000) 54-62
26. Sharp A.J., Selzer R.R., Veltman J.A., Gimelli S., Gimelli G., Striano P., Coppola A., Regan R., Price S.M., Knoers N.V., Eis P.S., Brunner H.G., Hennekam R.C., Knight S.J., de Vries B.B., Zuffardi O., and Eichler E.E. Characterization of a recurrent 15q24 microdeletion syndrome. Hum. Mol. Genet. 16 (2007) 567-572
27. Sharp A.J., Mefford H.C., Li K., Baker C., Skinner C., Stevenson R.E., Schroer R.J., Novara F., De Gregori M., Ciccone R., Broomer A., Casuga I., Wang Y., Xiao C., Barbacioru C., Gimelli G., Bernardina B.D., Torniero C., Giorda R., Regan R., Murday V., Mansour S., Fichera M., Castiglia L., Failla P., Ventura M., Jiang Z., Cooper G.M., Knight S.J., Romano C., Zuffardi O., Chen C., Schwartz C.E., and Eichler E.E. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat. Genet. 40 (2008) 322-328
28. Vermeesch J.R., Fiegler H., de Leeuw N., Szuhai K., Schoumans J., Ciccone R., Speleman F., Rauch A., Clayton-Smith J., Van Ravenswaaij C., Sanlaville D., Patsalis P.C., Firth H., Devriendt K., and Zuffardi O. Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur. J. Hum. Genet. 15 (2007) 1105-1114
29. Vissers L.E., van Ravenswaaij C.M., Admiraal R., Hurst J.A., de Vries B.B., Janssen I.M., van der Vliet W.A., Huys E.H., de Jong P.J., Hamel B.C., Schoenmakers E.F., Brunner H.G., Veltman J.A., and van Kessel A.G. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat. Genet. 36 (2004) 955-957
30. Weedon M.N., Lettre G., Freathy R.M., Lindgren C.M., Voight B.F., Perry J.R., Elliott K.S., Hackett R., Guiducci C., Shields B., Zeggini E., Lango H., Lyssenko V., Timpson N.J., Burtt N.P., Rayner N.W., Saxena R., Ardlie K., Tobias J.H., Ness A.R., Ring S.M., Palmer C.N., Morris A.D., Peltonen L., Salomaa V., Davey Smith G., Groop L.C., Hattersley A.T., McCarthy M.I., Hirschhorn J.N., and Frayling T.M. A common variant of HMGA2 is associated with adult and childhood height in the general population. Nat. Genet. 39 (2007) 1245-1250
31. Weedon M.N., Lango H., Lindgren C.M., Wallace C., Evans D.M., Mangino M., Freathy R.M., Perry J.R., Stevens S., Hall A.S., Samani N.J., Shields B., Prokopenko I., Farrall M., Dominiczak A., Johnson T., Bergmann S., Beckmann J.S., Vollenweider P., Waterworth D.M., Mooser V., Palmer C.N., Morris A.D., Ouwehand W.H., Zhao J.H., Li S., Loos R.J., Barroso I., Deloukas P., Sandhu M.S., Wheeler E., Soranzo N., Inouye M., Wareham N.J., Caulfield M., Munroe P.B., Hattersley A.T., McCarthy M.I., and Frayling T.M. Genome-wide association analysis identifies 20 loci that influence adult height. Nat. Genet. 40 (2008) 575-583
32. Zhou X., Benson K.F., Ashar H.R., and Chada K. Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C. Nature 376 (1995) 771-774