Second family with the boston-type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum

American Journal of Medical Genetics, Part A

Volumn 161, Issue 9, 2013, Pages 2352-2357

  Janssen, Alexander ^a   Hosen, Mohammad J ^a   Jeannin, Philippe ^b   Coucke, Paul J ^a   De Paepe, Anne ^a   Vanakker, Olivier M ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b Jan Palfijn Hospital   (Belgium)

Author keywords

Boston type craniosynostosis; MSX2

Indexed keywords

TRANSCRIPTION FACTOR MSX2;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; FEMALE; GENETIC ASSOCIATION; HUMAN; MALE; MISSENSE MUTATION; MSX2 GENE; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

BOSTON-TYPE CRANIOSYNOSTOSIS; MSX2;

CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; FACIES; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PHENOTYPE; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84881670219     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36077     Document Type: Article

References (21)

1. 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.
2. Bernier V, Ghassibé M, Boon LM, Vikkula M. 2004. A novel loss of function mutation in the MSX2 homeobox gene in a family with foramina parietalia permagna (PFM) [abstract]. The American Society of Human Genetics 54th Annual Meeting: 436.
3. Boyadjiev SA. 2007. International craniosynostosis consortium. Genetic analysis of non-syndromic craniosynostosis Orthod Craniofac Res 10:129-137.
4. de Oliveira Pelegrino K, Sugayama S, Lezirovitz K, Catelani AL, Kok F, de Lourdes Chauffaille M. 2012. MSX2 copy number increase and craniosynostosis: Copy number variation detected by array comparative genomic hybridization. Clinics (Sao Paulo) 67:981-985.
5. Everett ET, Britto DA, Ward RE, Hartsfield JK Jr. 1999. A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. Cleft Palate Craniofac J 36:533-541.
6. Garcia-Minaur S, Mavrogiannis LA, Rannan-Eliya 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.
7. Ghassibé M, Bernier V, Boon LM, Vikkula M. 2006. A novel mutation in the MSX homeobox domain gene of a family with foramina parietalia permagna, headache and vascular anomaly. Eur J Pediatr 165:734-735.
8. Gripp KW, Zackai EH, Stolle CA. 2000. Mutations in the human TWIST gene. Hum Mutat 15:150-155.
9. Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, Snead ML, Maxson R. 1993. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75:443-450.
10. Johnson D, Wilkie AO. 2011. Craniosynostosis. Eur J Hum Genet 19:369-376.
11. Kariminejad A, Kariminejad R, Tzschach A, Ullmann R, Ahmed A, Asghari-Roodsari A, Salehpour S, Afroozan F, Ropers HH, Kariminejad MH. 2009. Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: Association of extra copy of MSX2 with craniosynostosis. Am J Med Genet Part A 149A:1544-1549.
12. Kolar JC. 2011. An epidemiological study of nonsyndromal craniosynostosis. J Craniofac Surg 22:47-49.
13. Liu TM, Lee EH. 2013. Transcriptional regulatory cascades in Runx2-dependent bone development. Tissue Eng Part B Rev 19:254-263.
14. Ma L, Golden S, Wu L, Mawson R. 1996. The molecular basis of Boston-type craniosynostosis: The Pro148→His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences. Hum Mol Genet 5:1915-1920.
15. Mavrogiannis LA, Taylor IB, Davis SJ, Ramos FJ, Olivares JL, Wilkie AOM. 2006. Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: From genotype to phenotype. Eur J Hum Genet 14:151-158.
16. Selber J, Reid RR, Chike-Obi CJ, Sutton LN, Zackai EH, McDonald-McGinn D, Sonnad SS, Whitaker LA, Bartlett SP. 2008 The changing epidemiologic spectrum of single-suture synostoses. Plast Reconstr Surg 122:527-533.
17. Spruijt L, Verdyck P, Van Hul W, Wuyts W, de Die-Smulders C. 2005. A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP). Am J Med Genet Part A 139A:45-47.
18. Warman ML, Mulliken JB, Hayard PG, Müller U. 1993. Newly recognized autosomal dominant disorder with craniosynostosis. Am J Med Genet 46:444-449.
19. 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 gene MSX2 causes defect in skull ossification. Nat Genet 24:387-390.
20. Wuyts W, Reardon W, Preis S, Homfray T, Rasore-Quartino A, Christians H, Willems PJ, Van Hul W. 2000. Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna. Hum Mol Genet 9:1251-1255.
21. Yoon W-J, Cho Y-D, Cho K-H, Woo K-M, Baek J-H, Cho J-Y, Kim G-S, Ryoo H-M. 2008. The Boston-type craniosynostosis mutation MSX2 (P148H) results in enhanced susceptibility of MSX2 to ubiquitin-dependent degradation. J Biol Chem 283:32751-32761.