Severe Cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2

American Journal of Medical Genetics, Part A

Volumn 152, Issue 1, 2010, Pages 169-174

  El Gharbawy, Areeg H ^a,b   Peeden Jr , Joseph N ^c   Lachman, Ralph S ^b,d   Graham Jr , John M ^b,d   Moore, Stephen R ^b   Rimoin, David L ^b,d  

^a CAIRO UNIVERSITY   (Egypt)

^b CEDARS SINAI MEDICAL CENTER   (United States)

^c East Tennessee Children's Hospital   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

aCGH; C terminus; Cleidocranial dysplasia; Hypophosphatasia; Kyphoscoliosis; Microdeletion; Osteoporosis; RUNX2

Indexed keywords

ALKALINE PHOSPHATASE; TRANSCRIPTION FACTOR RUNX2;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; BONE MINERALIZATION; BOWDLER SPUR; CALVARIAL HYPOMINERALIZATION; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CLEIDOCRANIAL DYSPLASIA; CLINICAL EVALUATION; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DELETION; GENE DISRUPTION; HUMAN; HYPOPHOSPHATASIA; KYPHOSCOLIOSIS; MALE; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; OSTEOPENIA; OSTEOPHYTE; OSTEOPOROSIS; PRIORITY JOURNAL; RADIODIAGNOSIS; SCHOOL CHILD; ANAMNESIS; BONE DEMINERALIZATION; CLINICAL ASSESSMENT; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; GENE MUTATION; HYPOPHOSPHATEMIA; MICRODELETION; MOLECULAR PATHOLOGY; PELVIS RADIOGRAPHY; PRESCHOOL CHILD; SKULL RADIOGRAPHY; THORAX RADIOGRAPHY;

CHILD; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; HUMANS; HYPOPHOSPHATASIA; MALE; SEQUENCE DELETION;

EID: 75149194339     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33146     Document Type: Article

References (27)

1. Afzal F, Pratap J, Ito K, Ito Y, Stein JL, van Wijnen AJ, Stein GS, Lian JB, Javed A. 2005. Smad function and intranuclear targeting share a RUNX2 motif required for osteogenic lineage induction and BMP2 responsive transcription. J Cell Physiol 204:63-72.
2. Brueton LA, Reeve A, Ellis R, Husband P, Thompson EM, Kingston HM. 1992. Apparent cleidocranial dysplasia associated with abnormalities of 8q22 in three individuals. Am J Med Genet 43:612-618.
3. Chitayat D, Hodgkinson KA, Azouz EM. 1992. Intrafamilial variability in cleidocranial dysplasia: A three generation family. Am J Med Genet 42:298-303.
4. Choi J-Y, Pratap J, Javed A, Zaidi SK, Xing L, Balient E, Dalamangas S, Boyce B, van Wijnen AJ, Lian JB, Stein JL, Jones SN, Stein GS. 2001. Sub nuclear targeting of RUNX2/Cbfa/AML factors is essential for tissue-specific differentiation during embryonic development. Proc Natl Acad Sci USA 98:8650-8655.
5. Cooper SC, Flaitz M, Johnston DA, Brendan L, Hecht JT. 2001. A natural history of Cleidocranial dysplasia. Am J Med Genet 104:1-6.
6. Cunningham ML, Seto ML, Hing AV, Bull MJ, Hopkin RJ, Leppig KA. 2006. Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations. Birth Defects Res A 76:78-85.
7. Ducy P, Zhang R, Geoffroy V, Ridall AL, Karsenty G. 1997. Osf2/Cbfa1: A transcriptional activator of osteoblast differentiation. Cell 89:747-754.
8. Ducy P, Starbuck M, Priemel M, Shen J, Pinero G, Geoffroy V, Amling M, Karsenty G. 1999. ACbfa1-dependent genetic pathway controls bone formation beyond embryonic development. Genes Dev 13:1025-1036.
9. Huang LF, Fukai N, Selby PB, Olsen BR, Mundlos S. 1997. Mouse clavicular development: Analysis of wild type and cleidocranial dysplasia mutant mice. Dev Dyn 210:33-40.
10. Izumi K, Yahagi N, Fujii Y, Higuchi M, Kosaki R, Naito Y, Nishimura G, Hosokai N, Takahashi K, Kosaki K. 2006. Cleidocranial dysplasia plus vascular anomalies with 6p21.2 microdeletion spanning RUNX2 and VEGF. Am J Med Genet Part A 140A:398-401.
11. Komori T, Yagi H, Nomura A, Yamaguchi A, Sasaki K, Deguchi K, Shimizu Y, Bronson RT, Gao YH, Inada M, Sato M, Okamoto R, Kitamura Y, Yoshiki S, Kishimoto T. 1997 Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 89:755-764.
12. Lee B, Zhou G. 2004. RUNX2 and cleidocranial dysplasia. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. Inborn errors of development. New York.Oxford. pp 331-339.
13. Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffrov V, Ducy P, Karsenty G. 1997. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF/CBFA1 in cleidocranial dysplasia. Nat Genet 16:307-310.
14. Lee MT, Tsai AC, Chou CH, Sun FM, Huang LC, Yen P, Lin CC, Liu CY, Wu JY, Chen YT, Tsai FJ. 2008. Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia. Genomic Med 2:45-49.
15. Mendoza-Londono R, Lee B. 2006. Cleidocranial dysplasia. Gene Rev 1-18. http:/www.geneclinics.org.
16. Morava E, Karteszi J, Weisenbach AC, Mundlos S, Mehes K. 2002. Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. Eur J Pediatr 161:619-622.
17. Mundlos S. 1999. Cleidocranial dysplasia: Clinical and molecular genetics. J Med Genet 13:177-182.
18. Mundlos S, Mulliken JB, Abramson DL, Warman ML, Knoll JH, Olsen BR. 1995. Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. Hum Mol Genet 56:938-943.
19. Otto F, Thornell AP, Crompton T, Denzel A, Gilmore KC, Rosewell IR, Stamp GW, Beddington RS, Mundlos S, Olsen BR, Selby PB, Owen MJ. 1997. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome is essential for osteoblast differentiation and bone development. Cell 89:765-771.
20. Otto F, Kanegane H, Mundlos S. 2002. Mutations in the RUNX2 gene in patients with Cleidocranial dysplasia. Hum Mutat 19:209-216.
21. Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, Lee PJ, Majewski F, Mulliken JB, Suri M, Zenker M, Mundlos S, Otto F. 1999. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet 65:1268-1278.
22. Shohat M, Rimoin DL, Gruber HE, Lachman RS. 1991. Perinatal lethal hypophosphatasia: Clinical, radiologic and morphologic findings. Pediatr Radiol 21:421-427.
23. Unger S, Mornet E, Mundlos S, Blaser S, Cole DEC. 2002. Severe cleidocranial dysplasia can mimic hypophosphatasia. Eur J Pediatr 161:623-626.
24. Whyte MP. 1994. Hyposphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr Rev 15:439-446.
25. Whyte MP. 2001. Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease, 8th edition. New York: McGraw-Hill. pp 5313-5329.
26. Wyckoff MH, El-Turk C, Laptook A, Timmons C, Gannon FH, Zhang X, MummS, Whyte MP. 2005. Neonatal lethal osteochondrodysplasia with low serum levels of alkaline phosphatase and osteocalcin. J Clin Endocrinol Metab 90:1233-1240.
27. Zheng Q, Sebald E, Guang Z, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D. 2005. Dysregulation of chondrogenesis in human Cleidocranial dysplasia. Am J Hum Genet 77:305-312.