Congenital diaphragmatic hernia and chromosome 15q26: Determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization

American Journal of Human Genetics

Volumn 76, Issue 5, 2005, Pages 877-882

  Klaassens, M ^a   Van Dooren, M ^a   Eussen, H J ^a   Douben, H ^a   Den Dekker, A T ^a   Lee, C ^c   Donahoe, P K ^d   Galjaard, R J ^a   Goemaere, N ^b   De Krijger, R R ^b   Wouters, C ^a   Wauters, J ^e   Oostra, B A ^a   Tibboel, D ^a   De Klein, A ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 15Q; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME STRUCTURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; DATA ANALYSIS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INFORMATION PROCESSING; PRIORITY JOURNAL; PROMOTER REGION;

EID: 20244372562     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/429842     Document Type: Article

References (22)

1. Angara K, Nakayama J, Fredette B, Chong K, Ranscht B, Fukuda M (1997) Human STX polysialyltransferase forms the embryonic form of the neural cell adhesion molecule: tissue-specific expression, neurite outgrowth, and chromosomal localization in comparison with another polysialyltransferase, PST. J Biol Chem 272:7182-7190
2. Beresford MW, Shaw NJ (2000) Outcome of congenital diaphragmatic hernia. Pediatr Pulmonol 30:249-256
3. Biggio JR Jr, Descartes MD, Carroll AJ, Holt RL (2004) Congenital diaphragmatic hernia: is 15q26.1-26.2 a candidate locus? Am J Med Genet A 126:183-185
4. Brinks H, Conrad S, Vogt J, Oldekamp J, Sierra A, Deitinghoff L, Bechmann I, Alvarez-Bolado G, Heimrich B, Monnier PP, Mueller BK, Skutella T (2004) The repulsive guidance molecule RGMa is involved in the formation of afferent connections in the dentate gyrus. J Neurosci 24:3862-3869
5. Butler MG, Fogo AB, Fuchs DA, Collins FS, Dev VG, Phillips JA III (1988) Two patients with ring chromosome 15 syndrome. Am J Med Genet 29:149-154
6. Chen CP, Lee CC, Pan CW, Kir TY, Chen BF (1998) Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, urinary tract anomalies, congenital heart defect and kyphoscoliosis. Prenat Diagn 18:1289-1293
7. de Jong G, Rossouw RA, Retief AE (1989) Ring chromosome 15 in a patient with features of Fryns' syndrome. J Med Genet 26:469-470
8. Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M (1998) Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies; a retrospective study of 60 patients and literature review. Am J Med Genet 79:215-225
9. Fryns JP, Moerman F, Goddeeris P, Bossuyt C, Van den Berghe H (1979) A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities. Hum Genet 50:65-70
10. Greer JJ, Babiuk RP, Thebaud B (2003) Etiology of congenital diaphragmatic hernia: the retinoid hypothesis. Pediatr Res 53:726-730
11. Hengstschlager M, Mittermayer C, Repa C, Drahonsky R, Deutinger J, Bernaschek G (2004) Association of deletions of the chromosomal region 15q24-ter and diaphragmatic hernia: a new case and discussion of the literature. Fetal Diagn Ther 19:510-512
12. Kimura Y, Suzuki T, Kaneko C, Darnel AD, Moriya T, Suzuki S, Handa M, Ebina M, Nukiwa T, Sasano H (2002) Retinoid receptors in the developing human lung. Clin Sci (Lond) 103:613-621
13. Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG (2004) Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet 36:631-635
14. Lurie IW (2003) Where to look for the genes related to diaphragmatic hernia? Genet Couns 14:75-93
15. Pereira FA, Qiu Y, Zhou G, Tsai MJ, Tsai SY (1999) The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development. Genes Dev 13:1037-1049
16. Rogan PK, Seip JR, Driscoll DJ, Papenhausen PR, Johnson VP, Raskin S, Woodward AL, Butler MG (1996) Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. Am J Med Genet 62:10-15
17. Rosenberg C, Blakemore KJ, Kearns WG, Giraldez RA, Escallon CS, Pearson PL, Stetten G (1992) Analysis of reciprocal translocations by chromosome painting: applications and limitations of the technique. Am J Hum Genet 50:700-705
18. Schlembach D, Zenker M, Trautmann U, Ulmer R, Beinder E (2001) Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development. Prenat Diagn 21:289-292
19. Tonkin ET, Wang TJ, Lisgo S, Bamshad MJ, Strachan T (2004) NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet 36:636-641
20. Tonks A, Wyldes M, Somerset DA, Dent K, Abhyankar A, Bagchi I, Lander A, Roberts E, Kilby MD (2004) Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000. Prenat Diagn 24:596-604
21. Torfs CP, Curry CJ, Bateson TF, Honore LH (1992) A population-based study of congenital diaphragmatic hernia. Teratology 46:555-565
22. Vissers LE, Van Ravenswaaij CM, Admiraal R, Hurst JA, De Vries BB, Janssen IM, Van Der Vliet WA, Huys EH, De Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, Van Kessel AG (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36:955-957