Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation

American Journal of Medical Genetics, Part A

Volumn 164, Issue 10, 2014, Pages 2521-2528

  Yeung, K S ^a   Chee, Y Y ^a   Luk, H M ^b   Kan, Anita S Y ^a   Tang, Mary H Y ^a   Lau, Elizabeth T ^a   Shuen, Andrew Y ^c   Lo, Ivan F M ^b   Chan, Kelvin Y K ^a   Chung, Brian H Y ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b DEPARTMENT OF HEALTH   (China)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

Autosome translocation; DNA methylation; Genome wide DNA methylation microarray; X; X chromosome inactivation

Indexed keywords

ANDROGEN RECEPTOR;

AR GENE; ARTICLE; BLALOCK TAUSSIG SHUNT; BRAIN HEMORRHAGE; BRAIN ULTRASOUND; CASE REPORT; CHROMOSOME 15; CHROMOSOME 15Q; CHROMOSOME TRANSLOCATION 15; CHROMOSOME TRANSLOCATION X; CHROMOSOME XQ; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CPG ISLAND; DEVELOPMENTAL DISORDER; DNA METHYLATION; ECHOGRAPHY; ELECTROENCEPHALOGRAM; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE INACTIVATION; GENETIC ASSOCIATION; HEART ARREST; HUMAN; HUMAN CELL; INFANT; KARYOTYPE 46,XX; MULTIPLE ORGAN FAILURE; NEWBORN; PHENOTYPE; PHYSICAL EXAMINATION; RESPIRATORY FAILURE; SYMPTOMATOLOGY; X CHROMOSOME INACTIVATION; XIST GENE; GENE TRANSLOCATION; GENETICS; X CHROMOSOME;

CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, X; CPG ISLANDS; DNA METHYLATION; FEMALE; HUMANS; INFANT; PHENOTYPE; TRANSLOCATION, GENETIC; X CHROMOSOME INACTIVATION;

EID: 84908193685     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36670     Document Type: Article

References (39)

1. Almeida LG, Sakabe NJ, deOliveira AR, Silva MC, Mundstein AS, Cohen T, Chen YT, Chua R, Gurung S, Gnjatic S, Jungbluth AA, Caballero OL, Bairoch A, Kiesler E, White SL, Simpson AJ, Old LJ, Camargo AA, Vasconcelos AT. 2009. CTdatabase: A knowledge-base of high-throughput and curated data on cancer-testis antigens. Nucleic Acids Res 37:D816-819.
2. Avner P, Heard E. 2001. X-chromosome inactivation: Counting, choice and initiation. Nat Rev Genet 2:59-67.
3. Bailey JA, Carrel L, Chakravarti A, Eichler EE. 2000. Molecular evidence for a relationship between LINE-1 elements and X chromosome inactivation: The Lyon repeat hypothesis. Proc Natl Acad Sci USA 97:6634-6639.
4. Bibikova M, Lin Z, Zhou L, Chudin E, Garcia EW, Wu B, Doucet D, Thomas NJ, Wang Y, Vollmer E, Goldmann T, Seifart C, Jiang W, Barker DL, Chee MS, Floros J, Fan JB. 2006. High-throughput DNA methylation profiling using universal bead arrays. Genome Res 16:383-393.
5. Brown CJ, Ballabio A, Rupert JL, Lafreniere RG, Grompe M, Tonlorenzi R, Willard HF. 1991. A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome. Nature 349:38-44.
6. Carrel L, Willard HF. 2005. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 434:400-404.
7. Cattanach BM. 1975. Control of chromosome inactivation. Annu Rev Genet 9:1-18.
8. Cotton AM, Lam L, Affleck JG, Wilson IM, Penaherrera MS, McFadden DE, Kobor MS, Lam WL, Robinson WP, Brown CJ. 2011. Chromosomewide DNA methylation analysis predicts human tissue-specific X inactivation. Hum Genet 130:187-201.
9. Csankovszki G, Nagy A, Jaenisch R. 2001. Synergism of Xist RNA, DNA methylation, and histone hypoacetylation in maintaining Xchromosome inactivation. J Cell Biol 153:773-784.
10. DeSmet C, Lurquin C, Lethe B, Martelange V, Boon T. 1999. DNA methylation is the primary silencingmechanismfor a set of germline- and tumor-specific genes with a CpG-rich promoter. Mol Cell Biol 19:7327-7335.
11. Gartler SM, Riggs AD. 1983. Mammalian X-chromosome inactivation. Annu Rev Genet 17:155-190.
12. Giorda R, Bonaglia MC, Milani G, Baroncini A, Spada F, Beri S, Menozzi G, Rusconi M, Zuffardi O. 2008. Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1). Eur J Hum Genet 16:897-905.
13. Jones KL. 2006. Smith's Recognizable Patterns of Human Malformation. Pennsylvania: Saunders. 954 p.
14. Keitges EA, Palmer CG. 1986. Analysis of spreading of inactivation in eight X autosome translocations utilizing the high resolution RBG technique. Hum Genet 72:231-236.
15. Kelly TE, Wilks JW, Wyandt HE. 1986. Secondary amenorrhoea and 47, XX, i(Xq) karyotype. J Med Genet 23:371-372.
16. Keohane AM, Barlow AL, Waters J, Bourn D, Turner BM. 1999. H4 acetylation, XIST RNA and replication timing are coincident and define x; autosome boundaries in two abnormal X chromosomes. Hum Mol Genet 8:377-383.
17. King CR, Schimke RN. 1982. Pregnancy in a patient with 47, XX, i(Xq) karyotype. J Med Genet 19:467-469.
18. Kubota T, Nonoyama S, Tonoki H, Masuno M, Imaizumi K, Kojima M, Wakui K, Shimadzu M, Fukushima Y. 1999. A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR. Hum Genet 104:49-55.
19. Lavallee G, Andelfinger G, Nadeau M, Lefebvre C, Nemer G, Horb ME, Nemer M. 2006. The Kruppel-like transcription factor KLF13 is a novel regulator of heart development. EMBO J 25:5201-5213.
20. Lee JT, Strauss WM, Dausman JA, Jaenisch R. 1996. A 450 kb transgene displaysproperties of the mammalian X-inactivationc enter. Cell 86:83-94.
21. Lien CL, Wu C, Mercer B, Webb R, Richardson JA, Olson EN. 1999. Control of early cardiac-specific transcription of Nkx 2-5 by a GATA-dependent enhancer. Development 126:75-84.
22. Lyon MF. 1961. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature 190:372-373.
23. Lyon MF. 1998. X-chromosome inactivation: a repeat hypothesis. Cytogenet Cell Genet 80:133-137.
24. McFadden DG, Charite J, Richardson JA, Srivastava D, Firulli AB, Olson EN. 2000. A GATA-dependent right ventricular enhancer controls dHAND transcription in the developing heart. Development 127:5331-5341.
25. Novakovic B, Yuen RK, Gordon L, Penaherrera MS, Sharkey A, Moffett A, Craig JM, Robinson WP, Saffery R. 2011. Evidence for widespread changes in promoter methylation profile in human placenta in response to increasing gestational age and environmental/stochastic factors. BMC Genomics 12:529.
26. Pai L, Borgaonkar. 2003. Handbook of Chromosomal Syndromes. New York: Wiley-Liss.
27. Reed ML, LeffSE. 1994. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nat Genet 6:163-167.
28. Sakazume S, Ohashi H, Sasaki Y, Harada N, Nakanishi K, Sato H, Emi M, Endoh K, Sohma R, Kido Y, Nagai T, Kubota T. 2012. Spread of Xchromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation. Hum Genet 131:121-130.
29. Sanlaville D, Schluth-Bolard C, Turleau C. 2009. Distal Xq duplication and functional Xq disomy. Orphanet J Rare Dis 4:4.
30. Schanz S, Steinbach P. 1989. Investigation of the "variable spreading" of X inactivation into a translocated autosome. Hum Genet 82:244-248.
31. Schmidt M, Du Sart D. 1992. Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases. Am J Med Genet 42:161-169.
32. Serbedzija GN, Chen JN, Fishman MC. 1998. Regulation in the heart field of zebrafish. Development 125:1095-1101.
33. ShafiR, Iyer SP, Ellies LG, O'Donnell N, Marek KW, Chui D, Hart GW, Marth JD. 2000. The O-GlcNAc transferase gene resides on the X chromosome and is essential for embryonic stem cell viability and mouse ontogeny. Proc Natl Acad Sci U S A 97:5735-5739.
34. Sharp AJ, Spotswood HT, Robinson DO, Turner BM, Jacobs PA. 2002. Molecular and cytogenetic analysis of the spreading of X inactivation in X;autosome translocations. Hum Mol Genet 11:3145-3156.
35. Stankiewicz P, Kuechler A, Eller CD, Sahoo T, Baldermann C, Lieser U, Hesse M, Glaser C, Hagemann M, Yatsenko SA, Liehr T, Horsthemke B, Claussen U, Marahrens Y, Lupski JR, Hansmann I. 2006. Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. Am J Med Genet A 140A:442-452.
36. Watt AJ, Battle MA, Li J, Duncan SA. 2004. GATA4 is essential for formation of the proepicardium and regulates cardiogenesis. Proc Natl Acad Sci U S A 101:12573-12578.
37. White WM, Willard HF, Van Dyke DL, WolffDJ. 1998. The spreading of X inactivation into autosomal material of an x;autosome translocation: Evidence for a difference between autosomal and X-chromosomal DNA. Am J Hum Genet 63:20-28.
38. Willard HF, Latt SA. 1976. Analysis of deoxyribonucleic acid replication in human X chromosomes by fluorescence microscopy. Am J Hum Genet 28:213-227.
39. Yuen RK, Chen B, Blair JD, Robinson WP, Nelson DM. 2013. Hypoxia alters the epigenetic profile in cultured human placental trophoblasts. Epigenetics 8:192-202.