Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome

European Journal of Human Genetics

Volumn 13, Issue 9, 2005, Pages 1013-1018

  Flori, Elisabeth ^a,d   Girodon, Emmanuelle ^b   Samama, Brigitte ^c   Becmeur, François ^a   Viville, Brigitte ^a   Girard Lemaire, Françoise ^a   Doray, Bérénice ^a   Schluth, Caroline ^a   Marcellin, Luc ^a   Boehm, Nelly ^c   Goossens, Michel ^b   Pingault, Véronique ^b  

^a UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^b HENRI MONDOR HOSPITAL   (France)

^c UNIVERSITÉ DE STRASBOURG   (France)

^d HÔPITAL DE HAUTEPIERRE   (France)

Author keywords

Chromosome 7; Hirschsprung's disease; Silver Russell syndrome; Trisomy 7; Uniparental disomy

Indexed keywords

ADULT; ALLELE; AMNION CELL; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; GENOME IMPRINTING; HIRSCHSPRUNG DISEASE; HUMAN; INTESTINE; MOSAICISM; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; SKIN FIBROBLAST; SOCIAL ADAPTATION; TRISOMY 7; ULTRASOUND; X RAY; CHROMOSOME 7; CONGENITAL MALFORMATION; FACE; GENETICS; GROWTH DISORDER; MALE; PREGNANCY; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; SYNDROME; TRISOMY; UNIPARENTAL DISOMY;

ADULT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 7; FACE; FEMALE; GROWTH DISORDERS; HIRSCHSPRUNG DISEASE; HUMANS; MALE; MOSAICISM; PREGNANCY; PRENATAL DIAGNOSIS; SYNDROME; TRISOMY; UNIPARENTAL DISOMY;

EID: 27244438057     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201442     Document Type: Article

References (40)

1. Magenis E, Webb MJ, Spears B, Opitz JM: Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism. Am J Med Genet 1999; 87: 375-383.
2. Hodes ME, Gleiser S, DeRosa GP et al: Trisomy 7 mosaicism and manifestations of Goldenhar syndrome with unilateral radial hypoplasia. J Craniofac Genet Dev Biol 1981; 1: 49-55.
3. Jenkins D, Martin K, Young ID: Hypomelanosis of Ito associated with mosaicism for trisomy 7 and apparent 'pseudomosaicism' at amniocentesis. J Med Genet 1993; 30: 783-784.
4. Verghese S, Newlin A, Miller M, Burton BK: Mosaic trisomy 7 in a patient with pigmentary abnormalities. Am J Med Genet 1999; 87: 371-374.
5. Kayser M, Henderson LB, Kreutzmann J, Schreck R, Graham Jr JM: Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism. Am J Med Genet 2000; 95: 281-284.
6. Kalousek DK, Howard-Peebles PN, Olson SB et al: Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diagn 1991; 11: 743-750.
7. Kalousek DK, Langlois S, Barrett IJ et al: Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 1993; 52: 8-16.
8. Kalousek DK, Langlois S, Robinson WP et al: Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. Am J Med Genet 1996; 65: 348-352.
9. Wolstenholme J: Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16 and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization. Prenat Diagn 1996; 16: 511-524.
10. Hsu LY: United States survey on chromosome mosaicism and pseudomosaicism in prenatal diagnosis. Prenat Diagn 1984; 4: 97-130.
11. Hsu LYF, Kaffe S, Jenkins EC et al: Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies. Prenat Diagn 1992; 12: 555-573.
12. Hsu LY, Yu MT, Neu RL et al: Rare trisomy mosaicism diagnosed in amniocytes, involving an autosome other than chromosomes 13, 18, 20, and 21: karyotype/phenotype correlations. Prenat Diagn 1997; 17: 201-242.
13. Kivirikko S, Salonen R, Salo A, Von Koskull H: Prenatally detected trisomy 7 mosaicism in a dysmorphic child. Prenat Diagn 2002; 22: 541-544.
14. Bilimoria KY, Rothenberg JM: Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus. Am J Med Genet 2003; 118A: 60-63.
15. Kotzot D, Schmitt S, Bernasconi F et al: Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 1995; 4: 583-587.
16. Eggermann T, Wollmann HA, Kuner R et al: Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Hum Genet 1997; 100: 415-419.
17. Preece MA, Price SM, Davies V et al: Maternal uniparental disomy 7 in Silver-Russell syndrome. J Med Genet 1997; 34: 6-9.
18. Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC: The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999; 36: 837-842.
19. Kotzot D, Balmer D, Baumer A et al: Maternal uniparental disomy 7 - review and further delineation of the phenotype. Eur J Pediatr 2000; 159: 247-256.
20. Hitchins MP, Stanier P, Preece MA, Moore GE: Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet 2001; 38: 810-819.
21. Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M: Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet 2001; 38: 273-278.
22. Kotzot D: Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15. Am J Med Genet 2002; 111: 366-375.
23. Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK: Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet 1995; 32: 871-875.
24. Amiel J, Lyonnet S: Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 2001; 38: 729-739.
25. Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK: Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum Genet 1999; 105: 273-280.
26. Monk D, Wakeling EL, Proud V et al: Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. Am J Hum Genet 2000; 66: 36-46.
27. Eggermann T, Meyer E, Wollmann HA: Quantification of GRB10 in 7p12-p14 by fluorogenic 5′ nuclease chemistry and application for genetic diagnosis in Silver-Russell syndrome. Ann Genet 2004; 47: 99-102.
28. Blagitko N, Mergenthaler S, Schulz U et al: Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet 2000; 9: 1587-1595.
29. Mergenthaler S, Hitchins MP, Blagitko-Dorfs N et al: Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression? Am J Hum Genet 2001; 68: 543-544.
30. McCann JA, Zheng H, Islam A, Goodyer CG, Polychronakos C: Evidence against GRB10 as the gene responsible for Silver-Russell syndrome. Biochem Biophys Res Commun 2001; 286: 943-948.
31. Eggerding FA, Schonberg SA, Chehab FF, Norton ME, Cox VA, Epstein CJ: Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet 1994; 55: 253-265.
32. Myioshi O, Kondoh T, Taneda H, Otsuka K, Matsumoto T, Niikawa N: 47,XX,UPD(7)mat, +r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region. J Med Genet 1999; 36: 326-329.
33. Nakabayashi K, Fernandez BA, Teshima I et al: Molecular genetic studies of human chromosome 7 in Silver-Russell syndrome. Genomics 2002; 79: 186-196.
34. Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J: A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am J Hum Genet 2001; 68: 247-253.
35. Bentley L, Nakabayashi K, Monk D et al: The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome. J Med Genet 2003; 40: 249-256.
36. Attie T, Pelet A, Edery P et al. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease. Hum Mol Genet 1995; 4: 1381-1386.
37. Angrist M, Bolk S, Bentley K, Nallasamy S, Halushka MK, Chakravarti A: Genomic structure of the gene for the SH2 and pleckstrin homology domain-containing protein GRB10 and evaluation of its role in Hirschsprung disease. Oncogene 1998; 17: 3065-3070.
38. Pandey A, Duan H, Di Fiore PP, Dixit VM: The Ret receptor protein tyrosine kinase associates with the SH2-containing adapter protein GRB10. J Biol Chem 1995; 270: 21461-21463.
39. Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A: Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nat Genet 1996; 14: 341-344.
40. Hitchins MP, Monk D, Bell GM et al: Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. Eur J Hum Genet 2001; 9: 82-90.