Situs ambiguus in a female fetus with balanced (X;21) translocation - Evidence for functional nullisomy of the ZIC3 gene?

European Journal of Human Genetics

Volumn 13, Issue 1, 2005, Pages 34-40

  Fritz, Barbara ^a   Kunz, Jürgen ^a   Strømstad Knudsen, Gun Peggy ^b   Louwen, Frank ^c   Kennerknecht, Ingo ^c   Eiben, Bernd ^d   Ørstavik, Karen Helene ^b   Friedrich, Ursula ^a,e   Rehder, Helga ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF MÜNSTER   (Germany)

^d Institut fur Klinische Genetik   (Germany)

^e AARHUS UNIVERSITY   (Denmark)

Author keywords

Balanced X autosome (X; 21) translocation; Cardiac malformation; Chromosomal microdissection; Human ZIC3 gene; Situs ambiguus; Skewed X inactivation; Structural chromosome aberration

Indexed keywords

ANDROGEN RECEPTOR; ZINC FINGER PROTEIN;

ARTICLE; ASPLENIA; CASE REPORT; CHROMOSOME 21; CHROMOSOME MICRODISSECTION; CHROMOSOME POLYMORPHISM; CHROMOSOME SATELLITE; CHROMOSOME TRANSLOCATION 21; CHROMOSOME TRANSLOCATION X; CHROMOSOME XQ; CONGENITAL HEART MALFORMATION; DIGESTIVE SYSTEM MALFORMATION; DISOMY; EXON; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GREAT VESSELS TRANSPOSITION; HUMAN; METAPHASE CHROMOSOME; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NULLISOMY; POLYMERASE CHAIN REACTION; PRIMED IN SITU LABELING; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SITUS AMBIGUUS VISCERUM; STRUCTURAL CHROMOSOME ABERRATION; TELOMERE; TRINUCLEOTIDE REPEAT; X CHROMOSOME INACTIVATION;

CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, X; DOSAGE COMPENSATION, GENETIC; FEMALE; FETAL HEART; GENOMIC IMPRINTING; HOMEODOMAIN PROTEINS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MIDDLE AGED; POLYMERASE CHAIN REACTION; RECEPTORS, ANDROGEN; SEX CHROMOSOME ABERRATIONS; SITUS INVERSUS; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC; ZINC FINGERS;

EID: 12744271916     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201213     Document Type: Article

References (41)

1. Casey B, Devoto M, Jones KL, Ballabio A: Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nat Genet 1993; 5: 403-407.
2. Ferrero GB, Gebbia M, Pilia G et al: A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet 1997; 61: 395-401.
3. Gebbia M, Ferrero GB, Pilia G et al: X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 1997; 17 305-308.
4. Mégarbané A, Salem N, Stephan E et al: X-linked transposition among males with a nonsense mutation in ZIC3. Eur J Hum Genet 2000; 8: 704-708.
5. Ware S, Peng J, Zhu L et al: Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 2004; 74: 93-105.
6. Benedyk MJ, Mullen JR, DiNardo S: Odd-paired: a zinc finger pair-rule protein required for the timely activation of engrailed and wingless in Drosophila embryos. Genes Dev 1994; 8: 105-117.
7. Aruga J, Nagai T, Tokuyama T et al: The mouse Zic gene family: homologues of the Drosophila pair-rule gene odd-paired. J Biol Chem 1996; 271: 1043-1047.
8. Kitaguchi T, Nagai T, Nakata K, Aruga J, Mikoshiba K: Zic3 is involved in the left-right specification of the Xenopus embryo. Development 2000; 127: 4787-4795.
9. Nagai T, Aruga J, Takada S et al: The expression of the mouse Zic1, Zic2 and Zic3 gene suggests an essential role for Zic genes in body pattern formation. Dev Biol 1997; 182 299-313.
10. Nakata K, Nagai T, Aruga J, Mikoshiba K: Xenopus ZIC3, a primary regulator both in neural and neural crest development. Proc Natl Acad Sci USA 1997; 94: 11980-11985.
11. Carrel T, Purandare SM, Harrision W et al: The X-linked mouse mutation Bent tail is associated with a deletion of the Zic3 locus. Hum Mol Genet 2000; 9: 1937-1942.
12. Klootwijk R, Franke B, van der Zee CEEM et al: A deletion encompassing Zic3 in Bent tail, a mouse model for X-linked neural tube defects. Hum Mol Genet 2000; 9: 1615-1622.
13. Friedrich U, Houman M, Holm-Hansen B, Kaltoft K: Microdissection and reverse painiting in a melanoma cell line: a detailed description of structurally abnormal chromosomes. Cancer Genet Cytogenet 2001; 125: 5-9.
14. Koch J, Hindkjaer J, Kolvraa S, Bolund L: Construction of panel of chromosome-specific oligonucleotide probes (PRINS-primer) useful for the identification of individual human chromosomes in situ. Cytogenet Cell Genet 1995; 71: 142-147.
15. Gravholt CH, Friedrich U, Caprani M, Jørgensen AL: Breakpoints in Robertsonian translocations are localized to satellite III DNA by fluorescense in situ hybridization. Genomics 1992; 14: 924-930.
16. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229-1239.
17. Ørstavik KH, Ørstavik RE, Naumova AD et al: X chromosome inactivation in carriers of Barth syndrome. Am J Hum Genet 1998; 63: 1457-1463.
18. Soltan HC, Li MD: Hereditary dextrocardia associated with other congenital heart defects: report of a pedigree. Clin Genet 1974; 5: 51-58.
19. Mathias RS, Lacro RV, Jones KL: X-linked laterality sequence: situs inversus, complex cardiac defects, splenic defects. Am J Med Genet 1987; 28: 111-116.
20. Mikkilä SP, Karikowski TT, Simola KOJ: X-linked laterality sequence in a family with carrier manifestations. Am J Med Genet 1994; 49: 435-438.
21. Ware SM, Peng J, Zhu L et al: Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 2004; 74: 93-105.
22. Herman GE, El-Hodiri HM: The role of Zic3 in vertebrate development. Cytogenet Genome Res 2002; 99: 229-235.
23. Bamford RN, Roessler E, Burdine RD et al: Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet 2000; 18: 301-302.
24. Kato R, Yamada Y, Niikawa N: De novo balanced translocation (6;8)(q21;q21.3) in a patient with heterotaxia. Am J Med Genet 1996; 66: 184-186.
25. Peeters H, Debeer P, Groenen P et al: Recurrent involvement of chromosomal region 6q21 in heterotaxy. Am J Med Genet 2001; 103: 44-47.
26. Robinson SW, Morris CD, Goldmuntz E et al: Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet 2003; 72: 1047-1052.
27. Watanabe Y, Benson DW, Yano S et al: Two novel frameshift mutations in NKX2.5 result in novel features including visceral inversus and sinus venosus type ASD. J Med Genet 2002; 39: 807-811.
28. Brown CJ, Robinson W: The causes and consequences of random and nonrandom X chromosome inactivation in humans. Clin Genet 2000; 58: 353-363.
29. Zabel BU, Baumann WA, Pirntke W, Gerhard-Ratschow K: X-inactivation pattern in three cases of X/autosome translocation. Am J Med Genet 1978; 9: 316-320.
30. Belmont JW: Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet 1996; 58: 1101-1108.
31. Schmidt M, du Sart D: Functional disomies of the X chromosome influence the cell selection and hence the inactivation pattern in females with balanced X; autosome translocations: a review of 122 cases. Am J Med Genet 1992; 42: 161-169.
32. Penaherrera MS, Ma S, Ho Yuen B, Brown CJ, Robinson WP: X-chromosome inactivation (XCI) patterns in placental tissues of a paternally derived bal t(X;20) case. Am J Med Genet 2003; 118A 29-34.
33. Kleinjan DJ, van Heyningen V: Position effect in human genetic disease. Hum Mol Genet 1998; 7: 1611-1618.
34. Sheardown S, Norris D, Fisher A, Brockdorff N: The mouse Smcx gene exhibits developmental and tissue specific variation in degree of escape from X inactivation. Hum Mol Genet 1996; 5: 1355-1360.
35. Karpen GH: Position-effect variegation and the new biology of heterochromatin. Curr Opin Genet Dev 1994; 4: 281-291.
36. Festenstein R, Tolaini M, Corbella P et al: Locus control region function and heterochromatin-induced position effect variegation. Science 1996; 271: 1123-1125.
37. Milot E, Strouboulis J, Trimborn T et al: Heterochromatin effects on the frequency and duration of LCR-mediated gene transcription. Cell 1996; 87: 105-114.
38. Dernburg AF, Bromann KW, Fung JC et al: Pertubation of nuclear architecture by long distance chromosome interactions. Cell 1996; 85: 745-759.
39. Csink AK, Henikoff S: Genetic modification of heterochromatic association and nuclear organization in Drosophila. Nature 1996; 381: 529-531.
40. Brown KE, Guest SS, Smale ST, Hahm K, Merkenschlager M, Fisher AG: Association of transcriptionally silent genes with Ikaros complexes at centromeric heterochromatin. Cell 1997; 91: 845-854.
41. Akiyama M, Kawame H, Ohashi H et al: Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X.21)(q26.3;p11.2) translocation. Am J Med Genet 2001; 99: 111-114.