Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster

American Journal of Medical Genetics, Part A

Volumn 143, Issue 10, 2007, Pages 1053-1059

  Stevenson, David A ^a   Bleyl, Steven B ^a   Maxwell, Teresa ^a   Brothman, Arthur R ^a   South, Sarah T ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

HOXD; Mandibulofacial dysostosis; Syndrome; TCOF1; Translocation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME 2Q; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE CLUSTER; GENE DISRUPTION; GENE MUTATION; GENE SEQUENCE; HOXD GENE; HUMAN; INFANT; KARYOTYPE; MANDIBULOFACIAL DYSOSTOSIS; MICROARRAY ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; TCOF1 GENE;

CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 2; DISEASES IN TWINS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; INFANT, NEWBORN; MANDIBULOFACIAL DYSOSTOSIS; TRANSLOCATION, GENETIC;

EID: 34248163494     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31715     Document Type: Article

References (34)

1. Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M. 1996. Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet 5:945-952.
2. Arn PH, Mankinen C, Jabs EW. 1993. Mild mandibulofacial dysostosis in a child with a deletion of 3p. Am J Med Genet 46:534-536.
3. Balestrazzi P, Baeteman MA, Mattei MG, Mattei JF. 1983. Franceschetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B. Hum Genet 64:305-308.
4. Condie BG, Capecchi M. 1993. Mice homozygous for a targeted disruption of Hoxd-3 (Hox4-1) exhibit anterior transformations of the first and second cervical vertebrae, the atlas and the axis. Development 119:579-595.
5. Del Campo M, Jones MC, Veraksa AN, Curry CJ, Jones KL, Mascarello JT, Ali-Kahn-Catts Z, Drumheller T, McGinnis W. 1999. Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster. Am J Hum Genet 65:104-110.
6. Delb W, Lipfert S, Henn W. 2001. Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: A new recessive syndrome? Clin Dysmorphol 10:105-109.
7. Dlugaszewska B, Silahtaroglu A, Menzel C, Kubart S, Cohen M, Mundlos S, Tumer Z, Kjaer K, Friedrich U, Ropers HH, et al. 2006. Breakpoints around the HOXD cluster result in various limb malformations. J Med Genet 43:111-118.
8. Emes RD, Ponting CP. 2001. A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration. Hum Mol Genet 10:2813-2820.
9. Favier B, Dolle P. 1997. Developmental functions of mammalian Hox genes. Mol Hum Reprod 3:115-131.
10. Goodman FR, Scambler PJ. 2001. Human HOX gene mutations. Clin Genet 59:1-11.
11. Hedera P, Toriello HV, Petty EM. 2002. Novel autosomal dominant mandibulofacial dysostosis with ptosis: Clinical description and exclusion of TC OF1. T Med Genet 39:484-488.
12. Hing AV, LeBlond C, Sze RW, Starr JR, Monks S, Parisi MA. 2006. A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance. Am J Med Genet Part A 140A:804-812.
13. Jabs EW, Coss CA, Hayflick SJ, Whitmore TE, Pauli RM, Kirkpatrick SJ, Meyers DA, Goldberg R, Day DW, Rosenbaum KN. 1991. Chromosomal deletion 4pl5.32 → p14 in a Treacher Collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. Genomics 11:188-192.
14. Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO. 2003. Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E. Am J Hum Genet 72:984-997.
15. Kmita M, Kondo T, Duboule D. 2000. Targeted inversion of a polar silencer within the HoxD complex re-allocates domains of enhancer sharing. Nat Genet 26:451-454.
16. Kmita M, Fraudeau N, Herault Y, Duboule D. 2002. Serial deletions and duplications suggest a mechanism for the collinearity of Hoxd genes in limbs. Nature 420:145-150.
17. Lee AP, Koh EG, Tay A, Brenner S, Venkatesh B. 2006. Highly conserved syntenic blocks at the vertebrate Hox loci and conserved regulatory elements within and outside Hox gene clusters. Proc Natl Acad Sci USA 103:6994-6999.
18. Lowry RB, Morgan K, Holmes TM, Metcalf PJ, Stauffer GF. 1985. Mandibulofacial dysostosis in Hutterite sibs: A possible recessive trait. Am J Med Genet 22:501-512.
19. Mark M, Rijli FM, Chambon P. 1997. Homeobox genes in embryogenesis and pathogenesis. Pediatr Res 42:421-429.
20. Muragaki Y, Mundlos S, Upton J, Olsen BR. 1996. Altered growth and branching patterns in synpolydactyly caused by mutations in HO XD13. Science 272:548-551.
21. Nucci P. Manitto MP, Faiella A, Boncinelli E, Brancato R. 1994. Balanced translocation (t 2q; 10p) and ocular anomalies. A possible HOX gene defect. Ophthalmic Genet 15:129-131.
22. Ramer JC, Ladda RL, Frankel CA, Beckford A. 1989. A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2. Am J Med Genet 32:359-363.
23. Ramer JC, Mowrey PN, Robins DB, Ligato S, Towfighi J, Ladda RL. 1990. Five children with del (2)(q31q33) and one individual with dup (2)(q31q33) from a single family: Review of brain, cardiac, and limb malformations. Am J Med Genet 37:392-400.
24. Richieri-Costa A, Bortolozo MA, Lauris JRP, Lauris RCMC, Guion-Almeida ML, Marques D, Moreti D. 1993. Mandibulofacial dysostosis: Report on two brazilian families suggesting autosomal recessive inheritance. Am J Med Genet 46:659-664.
25. Sawada H, Kawashima Y, Yamamoto Y, Egi R, Nagata I, Kanzaki S. 2002. Pericentric inversion inv(2) (p11.2q21) associated with Treacher Collins-Franceschetti syndrome. Pediatr Int 44: 328-329.
26. Slavotinek A, Schwarz C, Getty JF, Stecko O, Goodman F, Kingston H. 1999. Two cases with interstitial deletions of chromosome 2 and sex reversal in one. Am J Med Genet 86:75-81.
27. South ST, Swensen JJ, Maxwell T, Rope A, Brothman AR, Chen Z. 2006. A new genomic mechanism leading to cri-du-chat syndrome. Am J Med Genet Part A 140A:2714-2720.
28. Spitz F, Montavon T, Monso-Hinard C, Morris M, Ventruto ML, Antonarakis S, Ventruto V, Duboule D. 2002. A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects. Genomics 79:493-498.
29. Spitz F, Herkenne C, Morris MA, Duboule D. 2005. Inversion-induced disruption of the Hoxd cluster leads to the partition of regulatory landscapes. Nat Genet 37:889-893.
30. Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, PassosBueno MR. 2000. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat 16:315-322.
31. Teber OA, Gillessen-Kaesbach G, Fischer S, Bohringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, Konig R, Kuntsmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. 2004. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 12:879-890.
32. The Treacher Collins Collaborative Group. 1996. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet 12:130-136.
33. Valdez BC, Henning D, So RB, Dixon J, Dixon MJ. 2004. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomomal DNA gene transcription by interacting with upstream binding factor. Proc Natl Acad Sci USA 101:10709-10712.
34. Verloes A, Lesenfants S. 1997. A new form of mandibulofacial dysostosis with macroblepharon and macrostomia. Clin Dysmorphol 6:21-24.