Chromosome 7p disruptions in Silver Russell syndrome: Delineating an imprinted candidate gene region.

Human Genetics

Volumn 111, Issue 4-5, 2002, Pages 376-387

  Monk, David ^a,f   Bentley, Louise ^a   Hitchins, Megan ^a   Myler, Rachael A ^b   Clayton Smith, Jill ^c   Ismail, Samira ^d   Price, Sue M ^e   Preece, Michael A ^f   Stanier, Philip ^a   Moore, Gudrun E ^a  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^b CHURCHILL HOSPITAL   (United Kingdom)

^c MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^d NATIONAL RESEARCH CENTRE   (Egypt)

^e NORTHAMPTON GENERAL HOSPITAL NHS TRUST   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ARTICLE; BODY DYSMORPHIC DISORDER; CENTROMERE; CHILD; CHROMOSOME 7P; CHROMOSOME 7P11.1-P14; CHROMOSOME 7P11.2; CHROMOSOME DUPLICATION; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINODACTYLY; CLONE; CYTOGENETICS; DATA BASE; DNA FLANKING REGION; EVIDENCE BASED MEDICINE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DISRUPTION; GENE PROBE; GENETIC HETEROGENEITY; GENOME IMPRINTING; GROWTH INHIBITION; HUMAN; HUMAN CELL; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; PERICENTRIC CHROMOSOME INVERSION; POSTNATAL GROWTH; PRENATAL GROWTH; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC CELL GENETICS; UNIPARENTAL DISOMY;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 7; DNA PRIMERS; FETAL GROWTH RETARDATION; GENOMIC IMPRINTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0036820514     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0777-4     Document Type: Article

References (54)

1. Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstratt AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD (1999) Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 65:370-386
2. Apessos A, Abou-Sleiman PM, Harper JC, Delhanty JD (2001) Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers. Prenat Diagn 21:504-511
3. Bartolomei M, Tilghman S (1997) Genomic imprinting in mammal. Ann Rev Genet 31:493-525
4. Beechey CV (2000) Peg1/Mest locates distal to the currently defined imprinting region on mouse proximal chromosome 6 and identifies a new imprinting region affecting growth. Cytogenet Cell Genet 9:309-314
5. Blagitko N, Mergenthaler S, Schulz U, Wollmann HA, Craigen W, Eggermann T, Ropers HH, Kalscheuer VM (2000) Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet 9:1587-1595
6. Butler M, Palmer C (1983) Parental origin of chromosome 15 deletions in Prader-Willi syndrome. Lancet 1:1285-1286
7. Cattanach B, Kirk M (1985) Differential activity of maternally and paternally derived chromosome regions in mice. Nature 315:496-498
8. Dupont J, Cuisset L, Le Tessier D, Vasseur C, Recan D, Cartigny M, Despert F, Bougnere P, Jeanpoerre M, Rabineau D (1998) Cytogenetic and molecular studies in 32 Silver Russell syndrome (SRS) patients. Am J Hum Genet (Suppl P2.113):97
9. Eggerding FA, Schonberg SA, Chehab FF, Norton ME, Cox VA, Epstein CJ (1994) Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet: 253-256
10. Eggermann K, Wollmann HA, Binder G, Kaiser P, Ranke MB, Eggermann T (1998a) Biparental expression of IGFBP1 and IGFBP3 renders their involvement in the etiology of Silver-Russell syndrome unlikely. Ann Genet 42:117-121
11. Eggermann K, Wollmann HA, Tomiuk J, Ranke MB, Kaiser P, Eggermann T (1998b) Screening for mutations in the promoter and the coding region of the IGFBP1 and IGFBP3 genes in Silver-Russell syndrome patients. Hum Hered 49:123-128
12. Findlay I, Quirke P (1996) Florescent polymerase chain reaction: Part 1. A new method allowing genetic diagnosis and DNA fingerprinting of single cells. Hum Reprod Update 2:137-152
13. Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J (2001a) A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am J Hum Genet 68:247-253
14. Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman (2001b) Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet 38:273-278
15. Harper J, Delhanty J (1994) FISH in Preimplantation Diagnosis. Methods in Molecular Medicine: Diagnosis of Genetic Disease. Humana, Totowa, N.J.
16. Hitchins MP, Monk D, Bell GM, Ali Z, Preece MA, Stanier P, Moore GE (2001) 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 9:82-90
17. Hoglund P, Holmberg C, De La Chapelle A, Kere J (1994) Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet 55:747-752
18. Jerome CA, Scherer SW, Tsui LC, Gietz RD, Triggs-Raine B (1997) Assignment of growth factor receptor-bound protein 10 (GRB10) to human chromosome 7p11.2-p12. Genomics 15:215-216
19. Joyce CA, Sharp A, Walker JM, Bullman H, Temple IK (1999) Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Hum Genet 105:273-280
20. Kirsch IR, Green ED, Yonescu R, Strausberg R, Carter N, Bentley D, Leversha MA, Dunham I, Braden VV, Hilgenfeld E, Schuler G, Lash AE, Shen GL, Martelli M, Kuehl WM, Klausner RD, Ried T (2000) A systematic, high-resolution linkage of the cytogenetic and physical maps of the human genome. Nat Genet 4:339-340
21. Knoll JH, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA (1989) Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32:285-290
22. Kosaki K, Kosaki R, Craigen WJ, Matsuo N (2000) Isoform-specific imprinting of the human PEG1/MEST gene. Am J Med Genet 66:309-312
23. Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Mehes K, Hamel BC, Otten BJ, Hergersberg M (1995) Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4:583-587
24. Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A (2001) Maternal uniparental disomy 7 - Review and further delineation of the phenotype. Eur J Pediatr 159:247-256
25. Lai K, Skuse D, Stanhope R, Hindmarsh P (1994) Cognitive abilities associated with the Silver Russell syndrome. Arch Dis Child 71:490-496
26. Lee MP, Hu RJ, Johnson LA, Feinberg AP (1997) Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements. Nat Genet 15:181-185
27. Lee MP, DeBaun MR, Mitsuya K, Galonek HL, Brandenburg S, Oshimura M, Feinberg AP (1999) Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. Proc Natl Acad Sci USA 96:5203-5208
28. Li M, Squire JA, Weksberg R (1998) Overgrowth syndromes and genomic imprinting: From mouse to man. Clin Genet 53:165-170
29. Magenis RE, Toth-Fejel S, Allen LJ, Black M, Brown MG, Buden S, Cohen R, Friedman JM, Kalousek D, Zonana J (1990) Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences. Am J Med Genet 35:333-349
30. Mergenthaler S, Hitchins MP, Blagitko-Dorfs N, Monk D, Wollmann HA, Ranke MB, Ropers HH, Apostolidou S, Stanier P, Preece MA, Eggermann T, Kalscheuer VM, Moore GE (2001a) 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 68:543-545
31. Mergenthaler S, Sharp A, Ranke MB, Kalscheuer VM, Wollmann HA, Eggermann T (2001) Gene dosage analysis in Silver-Russell syndrome: Use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13. Genet Test 5:261-266
32. Miyoshi N, Kuroiwa Y, Kohda T, Shitara H, Yonekawa H, Kawabe T, Hasegawa H, Barton SC, Surani MA, Kaneko-Ishino T, Ishino F (1998) Identification of the Meg1/Grb10 imprinted gene on mouse proximal chromosome 11, a candidate for the Silver-Russell syndrome gene. Proc Natl Acad Sci USA 95:1102-1107
33. Miyoshi O, Kondoh T, Taneda H, Otsuka K, Matsumoto T, Niikawa N (1999) 47,XX,UPD(7)mat,+r(7)-pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell sydrome (SRS): Possible exclusion of the putative SRS gene from a 7p13-q11 region. J Med Genet 36:326-329
34. Monk D, Wakeling EL, Proud V, Hitchins M, Abu-Amero SN, Stanier P, Preece MA, Moore GE (2000) Duplication of 7p11.2.-p13, including GRB10, in Silver-Russell syndrome. Am J Hum Genet 66:36-46
35. Monk D, Hitchins M, Russo S, Preece MA, Stanier P, Moore GE (2001) No evidence for mosaicism in Silver-Russell syndrome. J Med Genet 38:E11
36. Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer S (2002) Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics 79:186-196
37. Pan Y, McCaskill CD, Thompson KH, Hicks J, Casey B, Shaffer LG, Graigen WJ (1998) Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 62:1551-1555
38. Pentao L, Wise CA, Chinault AC, Patel PI, Lupski JR (1992) Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nat Genet 4:292-300
39. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H (2001) The HUGO Gene Nomenclature Committee (HGNC). Hum Genet 109:678-680
40. Preece MA, Price SM, Davies V, Clough L, Stanier P, Trembath RC, Moore GE (1997) Maternal uniparental disomy 7 in Silver-Russell syndrome. J Med Genet 34:6-9
41. Preece MA, Abu-Amero SN, Ali Z, Abu-Amero KK, Wakeling EL, Stanier P, Moore GE (1999) An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. J Med Genet 36:457-460
42. Price S, Stahope R, Garret C, Preece M, Trembath (1999) The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria. J Med Genet. 36:837-842
43. Reiter JL, Maihle NJ (1996) A 1.8 kb alternative transcript from the human epidermal growth factor receptor gene encodes a truncated form of the receptor. Nucleic Acids Res 24:4050-4056
44. Reik W, Maher ER (1997) Imprinting in clusters: Lessons from Beckwith-Wiedemann syndrome. Trends Genet 13:330-4
45. Russell A (1954) A syndrome of 'intrauterine dwarfism' recognised at birth with cranio-facial dysostosis, disproportionally short arms, and other anomalies. Proc R Soc Med 47:1040-1044
46. Schwienbacher C, Sabbioni S, Campi M, Veronese A, Bernardi G, Menegatti A, Hatada I, Mukai T, Ohashi H, Barbanti-Brodano G, Croce CM, Negrini M (1998) Transcriptional map of 170-kb region at chromosome 11p15.5: Identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples. Proc Natl Acad Sci USA 95:3873-3878
47. Silver H, Kiyasu W, Geirge J, Deamer W (1953) Syndrome of congenital hemihypertrophy, short stature, and elevated urinary gonadotrophins. Pediatrics 12:368-376
48. Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL (1994) Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8:52-58
49. Wakeling E, Abu-Amero S, Price S, Stanier P, Trembath R, Moore GE, Preece MA (1998) Genetics of Silver-Russell syndrome. Horm Res 49 (Suppl 2):32-36
50. Wakeling EL, Abu-Amero SN, Stanier P, Preece MA, Moore GE (1999) Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues. Eur J Hum Genet 6:158-164
51. Wakeling EL, Hitchins M, Stanier P, Monk D, Moore GE, Preece MA (2000) Silver-Russell syndrome and ring chromosome 7. J Med Genet 37:380
52. Williams CA, Zori RT, Stone JW, Gray BA, Cantu ES, Ostrer H (1990) Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am J Med Genet 35:350-353
53. Yan H, Papadopoulos N, Marra G, Perrera C, Jiricny J, Boland CR, Lynch HT, Chadwick RB, De La Chapelle A, Berg K, Eshleman JR, Yuan W, Markowitz S, Laken SJ, Lengauer C, Kinzler KW, Vogelstein B (2000) Conversion of diploidy to haploidy. Nature 403:723-724
54. Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K (2000) Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. Am J Hum Genet 67:476-482