Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1544-1549

  Kariminejad, Ariana ^a,d   Kariminejad, Roxana ^a   Tzschach, Andreas ^b   Ullmann, Reinhard ^b   Ahmed, Alisho ^b   Asghari Roodsari, Alaleh ^a   Salehpour, Shadab ^c   Afroozan, Fariba ^a   Ropers, Hans Hilger ^c   Kariminejad, Mohammad Hasan ^a  

^a Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^d 1143 Med Bldg ^*  (Iran)

Author keywords

Array comparative genomic hybridization (array CGH); Craniosynostosis; Del2q37.3 dup5q34; Extra copy of MSX2

Indexed keywords

TRANSCRIPTION FACTOR MSX2;

ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; ARTICLE; CASE REPORT; CELL DIFFERENTIATION; CHILD; CHROMOSOME 2; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 2Q37.3; CHROMOSOME DUPLICATION; CHROMOSOME DUPLICATION 5Q34; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL SYNOSTOSIS; CRANIOTOMY; DEVELOPMENTAL DISORDER; DUPLICATE GENE; ECHOCARDIOGRAPHY; ECHOGRAPHY; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOSS; GENE MAPPING; GENE PROBE; GENETIC ASSOCIATION; HUMAN; INFANT; KARYOTYPE 46,XY; MALE; MICROCEPHALY; OSTEOBLAST; PRIORITY JOURNAL; SUTURE; TELOMERE;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 5; CRANIOSYNOSTOSES; GENE DUPLICATION; HOMEODOMAIN PROTEINS; HUMANS; INFANT; LINKAGE (GENETICS); MALE;

EID: 67649870804     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32949     Document Type: Article

References (55)

1. Abuelo DN, Ahsanuddin AN, Mark HF. 2000. Distal 5q trisomy resulting from an X;5 translocation detected by chromosome painting. Am J Med Genet 94:392-399.
2. Babovic-Vuksanovic D, Westman JA, Jalal SM, Lindor NM. 1998. Clinical characteristics associated with dup17(q24q25.1) in a mosaic mother and two non-mosaic daughters. Clin Dysmorphol 7:171-176. (Pubitemid 28317443)
3. Barber JCK, Temple IK, Campbell PL, Collinson MN, Campbell CM, Renshaw RM, Dennis NR. 1996. Unbalanced translocation in a mother and her son in one of two 5;10 translocation families. Am J Med Genet 62:84-90. (Pubitemid 26075876)
4. Bartsch-Sandhoff M, Liersch R. 1977. Partial duplication 5q syndrome: Phenotypic similarity in two sisters with identical karyotype (partial duplication 5q33 leads to 5qter and partial deficiency 8p23 leads to pter). Ann Genet 20:281-284.
5. Beemer FA, de France HF, Rosina-Angelista IJ, Gerards LJ, Cats BP, Guyt R. 1984. Familial partial monosomy 5p and trisomy 5q; three cases due to paternal pericentric inversion 5(p151q33.3). Clin Genet 26:209-215. (Pubitemid 14073039)
6. Bernardini L, Castori M, Capalbo A, Mokini V, Mingarelli R, Simi P, Bertuccelli A, Novelli A, Dallapiccola B. 2007. Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication. Am J Med Genet Part A 143A:2937-2943. (Pubitemid 350274808)
7. Chernos JE, Fowlow SB, Cox DM. 1992. Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier. Clin Genet 41:266-269.
8. Cohen MM Jr. 1993. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 45:300-307. (Pubitemid 23033144)
9. Cohen MM Jr. 2006. The new bone biology: Pathologic, molecular, and clinical correlates. Am J Med Genet Part A 140A:2646-2706. (Pubitemid 44865095)
10. Cohen MM Jr, MacLean RE. 2000. Craniosynostosis: Diagnosis, evaluation and management. New York: Oxford University Press.
11. Curry CJ, Loughman WD, Francke U, Hall BD, Golbus MS, Derstine J, Epstein CJ. 1979. Partial trisomy for the distal long arm of chromosome 5 (region q34 leads to qter). A new clinically recognizable syndrome. Clin Genet 15:454-461.
12. Dean JC, De Silva DC, Reardon W. 1998. Craniosynostosis and chromosome 22q11 deletion. J Med Genet 35:346-347.
13. Elias-Jones AC, Habibi P, Larcher VF, Spencer T, Butler LJ. 1988. The trisomy (5)(q31-qter) syndrome: Study of a family with a t(5:14) translocation. Arch Dis Child 63:427-431. (Pubitemid 18103100)
14. Eshel G, Lahat E, Reish O, Barr J. 2002. Neurodevelopmental and behavioral abnormalities associated with deletion of chromosome 9p. J Child Neurol 17:50-51. (Pubitemid 34406889)
15. Falk RE, Casas KA. 2007. Chromosome 2q37 deletion: Clinical and molecular aspects. Am J Med Genet Part C 145C:357-371. (Pubitemid 350155974)
16. Ferguson-Smith MA. 1973. Inherited constriction fragility of chromosome 2. Ann Genet 16:29-34.
17. Fryburg JS, Golden WL. 1993. Interstitial deletion of 8q13.3 → 22.1 associated with craniosynostosis. Am J Med Genet 45:638-641. (Pubitemid 23066432)
18. Fryns JP, Kleczkowska A, Borghgraef M, Raveschot J, Van den Berghe H. 1987. Distinct dysmorphic in a child with inverted distal 5q duplication. Ann Genet 30:186-188. (Pubitemid 17144101)
19. Gajecka M, Yu W, Ballif BC, Glotzbach CD, Bailey KA, Shaw CA, Kashork CD, Heilstedt HA, Ansel DA, Theisen A, Rice R, Rice DP, Shaffer LG. 2005. Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure. Eur J Hum Genet 13:139-149. (Pubitemid 40220556)
20. Garcia-Minaur S, Mavrogiannis LA, Rannan-Eliva SV, Hendry MA, Liston WA,Porteous ME, Wilkie AO. 2003. Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. Eur J Hum Genet 11:892-895. (Pubitemid 37406995)
21. Genuardi M, Flamia R, Palka G, Parruti G, Neri G. 1992. Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q. Clin Genet 41:259-262.
22. Gong BT, Norwood TH, Hoehn H, McPherson E, Hall JG, Hickman R. 1976. Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome. Hum Genet 35:117-123.
23. Groen SE, Drewes JG, de Boer EG, Hoovers JM, Hennekam RC. 1998. Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6. Am J Med Genet 80:448-453. (Pubitemid 29002009)
24. Hara S, Yamada T, Nakai H, Ohtani A, Mizuno K. 1986. A case of partial 5q trisomy associated with partial 7q monosomy. Br J Ophthalmol 70: 630-633. (Pubitemid 16038288)
25. Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB. 1993. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75:443-450. (Pubitemid 23335070)
26. Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos- Bueno MR. 2005. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet 67:503-510. (Pubitemid 40637448)
27. Jones LA, Jordan DK, Taysi K, Strauss AW, Toth JK. 1979. Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature.HumGenet 51:37-42.
28. Kumar D, Heath PR, Blank CE. 1987. Clinical manifestations of trisomy 5q. J Med Genet 24:180-184. (Pubitemid 17032759)
29. Lazjuk GI, Lurie IW, Kirillova IA, Zaletajev DV, Gurevich DB, Shved IA, Ostrovskaya TI. 1985. Partial trisomy 5q and monosomy 5q within the same family. Clin Genet 28:122-129. (Pubitemid 15013060)
30. Levy B, Dunn TM, Kern JH, Hirschhorn K, Kardon NB. 2002. Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup 5q/del 5p (cri du chat). Am J Med Genet 108:192-197. (Pubitemid 34202850)
31. Lippe BM, Sparkes RS, Fass B, Neidengard L. 1980. Craniosynostosis and syndactyly: Expanding the 11q- chromosomal deletion phenotype. J Med Genet 17:480-483. (Pubitemid 11197427)
32. Liu YH, Kundu R, Wu L, Luo W, Ignelzi MA Jr, Snead ML, Maxson RE Jr. 1995. Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull. Proc Natl Acad Sci USA 92:6137-6141.
33. Martin NJ, Cartwright DW, Harvey PJ. 1985. Duplication 5q (5q22-5q33) from intrachromosomal insertion. Am J Med Genet 20:57-62.
34. Martin DM, Mindell MH, Kwierant CA, Glover TW, Gorski JL. 2003. Interrupted aortic arch in a child with trisomy 5q31.1-q35.1 due to a maternal(20;5)balanced insertion. Am J Med Genet Part A 116A: 268-271. (Pubitemid 36056746)
35. Mavrogiannis LA, Taylor IB, Davies SJ, Ramos FJ, Olivares JL, Wilkie AO. 2006. Enlarged partial formation caused by mutations in the homeobox gene ALX4 and MS X2: From genotype to phenotype. Eur J Hum Genet 14:151-158. (Pubitemid 43135857)
36. McDonald M, Maynard S, Sheldon S, Innis J. 1994. Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma.AmJ Med Genet 49:288-293.
37. McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, Schauer GM, Keppler-Noreuil KM, Ciprero KL, Pasquariello P Jr, La Rossa D, Bartlett SP, Whitaker LA, Zackai EH. 2005. Craniosynostosis: Another feature of the 22q11.2 deletion syndrome. Am J Med Genet Part A 136A:358-362. (Pubitemid 41076588)
38. Ono K, Ohashi Y, Nakano H, Togashi H, Kannari Y, Isono S. 1993. Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion of chromosome 5. Jpn J Hum Genet 38:319-328. (Pubitemid 23356031)
39. Osztovics M, Kiss P. 1975. Familial translocation, t(2;5)(p23;q31). Clin Genet 8:112-116.
40. Paoloni-Giacobino A, Bottani A, Dahoun SP. 1999. Pure partial trisomy 5q33 → 5q35 resulting from the adjacent-1 segregation of a paternal (5;14)(q33;p12) translocation. Ann Genet 42:166-169. (Pubitemid 30406690)
41. Passarge E, Bartsch-Sandhoff M, Rehder H. 1982. Fetal manifestation of a chromosomal disorder: Partial duplication of the long arm of chromosome 5(5q33 to qter). Teratology 25:221-225.
42. Rodewald A, Zankl M, Gley EO, Zang KD. 1980. Partial trisomy 5q: Three different phenotypes depending on different duplication segments.Hum Genet 55:191-198.
43. Schimmenti LA, Higgins RR, Mendelsohn NJ, Casey TM, Steinberger J, Mammel MC, Wiesner GL. 1995. Monosomy 9p24 → pter and trisomy 5q31 → qter: Case report and review of two cases. Am J Med Genet 57: 52-56.
44. Schroeder HW Jr, Forbes S, Mack L, Davis S, Norwood TH. 1986. Recombination aneusomy of chromosome 5 associated with multiple severe congenital malformations. Clin Genet 30:285-292. (Pubitemid 17176285)
45. Shiihara T, Kato M, Kimura T, Hayasaka K, Yamamori S, Ogata T. 2004. Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy. Am J Med Genet Part A 128A:214-216. (Pubitemid 39162951)
46. Sonoda T, Kawaguchi K, Ohba K, Madokoro H, Ohdo S. 1989. Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1). Jinrui Idengaku Zasshi 34:129-134. (Pubitemid 19202445)
47. Van Der Burgt CJ, Merkx GF, Janssen AH, Mulder JC, Suijkerbuijk RF, Smeets DF. 1992. Partial trisomy for 5q and monosomy for 12p in a liveborn child as a result of a complex five breakpoint chromosome rearrangement in a parent. J Med Genet 29:739-741.
48. Villa O, Del Campo M, Salido M, Gener B, Astier L, Del Valle J, Gallastegui F, Pérez-Jurado LA, Solé F. 2007. Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis. Am J Med Genet Part A 143A:1108-1113.
49. Wang JC, Steinraths M, Dang L, Lomax B, Eydoux P, Stockley T, Yong SL, Van Allen MI. 2007. Craniosynostosis associated with distal 5q-trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis. Am J Med Genet Part A 143A:2931-2936. (Pubitemid 350274807)
50. Wieacker P, Missbach D, Jakubiczka S, Borgmann S, Albers N. 1996. Sex reversal in a child with the karyotype 46,XY, dup(1)(p22.3p32.3). Clin Genet 49:271-273. (Pubitemid 26229817)
51. Wilkie AO, Tang Z, Elanko N, Walsh S, Twigg SR, Hurst JA, Wall SA, Chrzanowska KH, Maxson RE Jr. 2000. Functional haploinsufficiency of the human homeobox geneMSX2 causes defects in skull ossification. Nat Genet 24:387-390. (Pubitemid 30187438)
52. Witters I, Van Buggenhout G, Moerman P, Fryns JP. 1998. Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy. Prenat Diagn 18:1304-1307. (Pubitemid 29000921)
53. Wysocka B, Brozek I, Wierzba J, Kardas II, Woźniak A, Kowalczyk J, Balcerska A, Limon J. 2002. Partial trisomy of distal 5q and partial monosomy of Xpas a result of mating between two translocation carriers: Afemale with a balanced translocation t(X;5)(p11;q31) and a male with a der(13;14)(q10;q10)a case report and a family study. Ann Genet 45: 143-146. (Pubitemid 35204159)
54. Yip JE, Kokich VG, Shepard TH. 1980. The effect of high doses of retinoic acid on prenatal craniofacial development in Macacanemetrina. Teratology 21:29-38.
55. Zabel B, Baumann W, Gehler J, Conrad G. 1978. Partial trisomy for short and long arm of chromosome no 5: Two cases of two possible syndromes. J Med Genet 15:143-147. (Pubitemid 8338048)