De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

American Journal of Medical Genetics, Part A

Volumn 146, Issue 4, 2008, Pages 453-458

  Purandare, Smita M ^a   Mendoza Londono, Roberto ^b,c   Yatsenko, Svetlana A ^b   Napierala, Dobrawa ^b   Scott, Daryl A ^b   Sibai, Tarek ^b   Casas, Kari ^a   Wilson, Patrick ^a   Lee, Jiyun ^a   Muneer, Razia ^a   Leonard, Joe C ^a   Ramji, Faridali G ^a   Lachman, Ralph ^d   Li, Shibo ^a   Stankiewicz, Pawel ^b   Lee, Brendan ^b,e   Mulvihill, John J ^a,f  

^a UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d CEDARS SINAI MEDICAL CENTER   (United States)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^f Children's Hospital Oklahoma City   (United States)

Author keywords

Cleidocranial dysplasia (CCD); Fluorescence in situ hybridization (FISH); Phenotype genotype correlation; Three way chromosome translocation

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR RUNX2;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLEEDING; BONE DYSPLASIA; BONE GROWTH; CAPILLARY RESISTANCE; CASE REPORT; CHROMOSOME 6P; CHROMOSOME TRANSLOCATION; CLEIDOCRANIAL DYSPLASIA; CLINICAL ASSESSMENT; CLINICAL FEATURE; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CONTROL; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MOLECULAR GENETICS; OSTEOBLAST; PRIORITY JOURNAL; REGULATORY SEQUENCE; SCAR FORMATION;

ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 6; CLEIDOCRANIAL DYSPLASIA; CYTOGENETIC ANALYSIS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; TRANSLOCATION, GENETIC;

WORMIA;

EID: 38849149782     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31750     Document Type: Article

References (19)

1. Cooper SC, Flaitz CM, Johnston DA, Lee B, Hecht JT. 2001. A natural history of cleidocranial dysplasia. Am J Med Genet 104:1-6.
2. Fernandez BA, Siegel-Bartelt J, Herbrick J-AS, Teshima I, Scherer SW. 2005. Holoprosencephaly and cleidocranial dysplasia in a patient due to two position effect mutations: Case report and review of the literature. Clin Genet 68:349-359.
3. Gelb BD, Cooper E, Shevell M, Desnick RJ. 1995. Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. Am J Med Genet 58:200-205.
4. Izumi K, Yahagi N, Fujii Y, Higuchi M, Kosaki R, Naito Y, Nishimura G, Hosokai N, Takahashi T, 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.
5. Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Hecht J, Geoffroy V, Ducy P, Karsenty G. 1997. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. Nat Genet 16:307-310.
6. Mendoza-Londono R, Lee B. 2006. Cleidocranial dysplasia. Gene Rev 1-18 (http://www.geneclinics.org).
7. Mundlos S, Mulliken JB, Abramson DL, Warman ML, Knoll JHM, Olsen BR. 1995. Genetic mapping of cleidocranial dysplasia and evidence of microdeletion in one family. Hum Mol Genet 4:71-75.
8. Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR. 1997. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 89:773-779.
9. Napierala D, Garcia-Rojas X, Sam K, Wakui K, Chen C, Mendoza-Londono R, Zhou G, Zheng Q, Lee B. 2005. Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation. Mol Genet Metab 86:257-268.
10. Narahara K, Tsuji K, Yokoyama Y, Seino Y. 1995. Cleidocranial dysplasia associated with a t(6;18)(p12;q24) translocation. Am J Med Genet 56:119-120.
11. Nienhaus H, Mau U, Zang KD, Henn W. 1993. Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia. Am J Med Genet 46:630-631.
12. Shapiro IM. 1999. Discovery:Osf2/Cbfa1, a master gene of bone formation. Clin Orthod Res 2:42-46.
13. Stock M, Otto F. 2005. Control of RUNX2 isoform expression: The role of promoters and enhancers. J Cell Biochem 95:506-517.
14. Taybi H, Lachman RS. 1996. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. 4th edition. St. Louis: Mosby. p 788-791.
15. Winer N, Le Caignec C, Quere MP, David A, Boceno M, Aubron F, Joubert M, Boog G, Phillipe HJ, Rival JM. 2003. Prenatal diagnosis of a cleidocranial dysplasia-like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation. Ultrasound Obstet Gynecol 22:648-651.
16. Xiao ZS, Thomas R, Hinson TK, Quarles LD. 1998. Genomic structure and isoform expression of the mouse, rat and human Cbfa1/Osf2 transcription factor. Gene 214:187-197.
17. Yoshida T, Kanegane H, Osato M, Yanagida M, Miyawaki T, Ito Y, Shigesada K. 2002. Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype-phenotype correlations. Am J Hum Genet 71:724-738.
18. Zheng Q, Sebald E, 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.
19. Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb BD, Pinnen S, Berry SA, Greenberg CR, Karsenty G, Lee B. 1999. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet 8:2311-2316.