A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 5, 2012, Pages 996-1004

  Hannes, Femke ^a   Hammond, Peter ^b   Quarrell, Oliver ^c   Fryns, Jean Pierre ^a   Devriendt, Koenraad ^a   Vermeesch, Joris R ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

3D facial analysis; Microdeletion; WHS; Wolf Hirschhorn critical region; Wolf Hirschhorn syndrome

Indexed keywords

ADD1 GENE; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; FAM193ALPHA GENE; GENE DELETION; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENE LOCATION; GENETIC ASSOCIATION; GRK4 GENE; HUMAN; IMAGE ANALYSIS; IMAGE DISPLAY; KARYOTYPING; MALE; MEDICAL HISTORY; MFSD10 GENE; MOLECULAR PATHOLOGY; MUTATOR GENE; NOP14 GENE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SH3BP2 GENE; THREE DIMENSIONAL IMAGING; TNIP2 GENE; WOLF HIRSCHHORN SYNDROME; WOLF HIRSCHHORN SYNDROME CANDIDATE 1 GENE; WOLF HIRSCHHORN SYNDROME CANDIDATE 2 GENE;

ABNORMALITIES, MULTIPLE; CELLS, CULTURED; FACE; GENE EXPRESSION; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; REPRESSOR PROTEINS; SEQUENCE DELETION; TRANSCRIPTIONAL ELONGATION FACTORS; WOLF-HIRSCHHORN SYNDROME;

HUMAN HERPESVIRUS 4;

EID: 84859981667     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35299     Document Type: Article

References (27)

1. Basinko A, Douet-Guilbert N, Parent P, Blondin G, Mingam M, Monot F, Morel F, Le Bris MJ, De Braekeleer M. 2008. Familial interstitial deletion of the short arm of chromosome 4 (p15.33-p16.3) characterized by molecular cytogenetic analysis. Am J Med Genet Part A 146A: 899- 903.
2. Battaglia A, Carey JC, Cederholm P, Viskochil DH, Brothman AR, Galasso C. 1999. Natural history of Wolf-Hirschhorn syndrome: Experience with 15 cases. Pediatrics 103: 830- 836.
3. Battaglia A, Filippi T, Carey JC. 2008. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: Experience with 87 patients and recommendations for routine health supervision. Am J Med Genet Part C 148C: 246- 251.
4. Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S. 2009. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet 41: 359- 364.
5. Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E. 2005. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet 77: 205- 218.
6. Engbers H, van der Smagt JJ, van't Slot R, Vermeesch JR, Hochstenbach R, Poot M. 2009. Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. Eur J Hum Genet 17: 129- 132.
7. Estabrooks LL, Rao KW, Driscoll DA, Crandall BF, Dean JC, Ikonen E, Korf B, Aylsworth AS. 1995. Preliminary phenotypic map of chromosome 4p16 based on 4p deletions. Am J Med Genet 57: 581- 586.
8. Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. 2007. Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes. Am J Med Genet Part A 143A: 1169- 1173.
9. Garriga-Canut M, Schoenike B, Qazi R, Bergendahl K, Daley TJ, Pfender RM, Morrison JF, Ockuly J, Stafstrom C, Sutula T, Roopra A. 2006. 2-Deoxy-D-glucose reduces epilepsy progression by NRSF-CtBP-dependent metabolic regulation of chromatin structure. Nat Neurosci 9: 1382- 1387.
10. Gwilliam JR, Cunningham SJ, Hutton T. 2006. Reproducibility of soft tissue landmarks on three-dimensional facial scans. Eur J Orthod 28: 408- 415.
11. Hammond P, Hutton TJ, Allanson JE, Buxton B, Campbell LE, Clayton-Smith J, Donnai D, Karmiloff-Smith A, Metcalfe K, Murphy KC, Patton M, Pober B, Prescott K, Scambler P, Shaw A, Smith AC, Stevens AF, Temple IK, Hennekam R, Tassabehji M. 2005. Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet 77: 999- 1010.
12. Hammond P, Hannes F, Suttie M, Devriendt K, Vermeesch JR, Faravelli F, Forzano F, Parekh S, Williams S, McMullan D, South ST, Carey JC, Quarrell O. 2012. Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. Eur J Hum Genet 20: 33- 40.
13. Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K. 2010. Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome. Am J Med Genet Part A 152A: 1028- 1032.
14. Katz SG, Cantor AB, Orkin SH. 2002. Interaction between FOG-1 and the corepressor C-terminal binding protein is dispensable for normal erythropoiesis in vivo. Mol Cell Biol 22: 3121- 3128.
15. Lauderdale JD, Wilensky JS, Oliver ER, Walton DS, Glaser T. 2000. 3' deletions cause aniridia by preventing PAX6 gene expression. Proc Natl Acad Sci USA 97: 13755- 13759.
16. Maas NM, Van Buggenhout G, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR. 2008. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet 45: 71- 80.
17. Narita T, Yung TM, Yamamoto J, Tsuboi Y, Tanabe H, Tanaka K, Yamaguchi Y, Handa H. 2007. NELF interacts with CBC and participates in 3' end processing of replication-dependent histone mRNAs. Mol Cell 26: 349- 365.
18. Nimura K, Ura K, Shiratori H, Ikawa M, Okabe M, Schwartz RJ, Kaneda Y. 2009. A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf-Hirschhorn syndrome. Nature 460: 287- 291.
19. Rauch A, Schellmoser S, Kraus C, Dorr HG, Trautmann U, Altherr MR, Pfeiffer RA, Reis A. 2001. First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Am J Med Genet 99: 338- 342.
20. Rodriguez L, Zollino M, Climent S, Mansilla E, Lopez-Grondona F, Martinez-Fernandez ML, Murdolo M, Martinez-Frias ML. 2005. The new Wolf-Hirschhorn syndrome critical region (WHSCR-2): A description of a second case. Am J Med Genet Part A 136A: 175- 178.
21. Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H. 2009. High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications. Genome Res 19: 1682- 1690.
22. Shannon NL, Maltby EL, Rigby AS, Quarrell OW. 2001. An epidemiological study of Wolf-Hirschhorn syndrome: Life expectancy and cause of mortality. J Med Genet 38: 674- 679.
23. Stec I, Wright TJ, van Ommen GJ, de Boer PA, van Haeringen A, Moorman AF, Altherr MR, den Dunnen JT. 1998. WHSC1, a 90kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet 7: 1071- 1082.
24. Van Buggenhout G, Melotte C, Dutta B, Froyen G, Van Hummelen P, Marynen P, Matthijs G, de Ravel T, Devriendt K, Fryns JP, Vermeesch JR. 2004. Mild Wolf-Hirschhorn syndrome: Micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet 41: 691- 698.
25. Wright TJ, Ricke DO, Denison K, Abmayr S, Cotter PD, Hirschhorn K, Keinanen M, McDonald-McGinn D, Somer M, Spinner N, Yang-Feng T, Zackai E, Altherr MR. 1997. A transcript map of the newly defined 165kb Wolf-Hirschhorn syndrome critical region. Hum Mol Genet 6: 317- 324.
26. Zollino M, Di Stefano C, Zampino G, Mastroiacovo P, Wright TJ, Sorge G, Selicorni A, Tenconi R, Zappala A, Battaglia A, Di Rocco M, Palka G, Pallotta R, Altherr MR, Neri G. 2000. Genotype-phenotype correlations and clinical diagnostic criteria in Wolf-Hirschhorn syndrome. Am J Med Genet 94: 254- 261.
27. Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, Butte C, Memo L, Capovilla G, Neri G. 2003. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet 72: 590- 597.