Epigenetic signatures of Silver-Russell syndrome

被引:20
作者
Abu-Amero, Sayeda [1 ]
Wakeling, Emma L. [2 ]
Preece, Mike [1 ]
Whittaker, John [3 ]
Stanier, Philip [1 ]
Moore, Gudrun E. [1 ]
机构
[1] UCL, Inst Child Hlth, London WC1N 1EH, England
[2] Northwick Pk Hosp & Clin Res Ctr, N W London Hosp NHS Trust, Harrow HA1 3UJ, Middx, England
[3] London Sch Hyg & Trop Med, Dept Epidemiol & Populat Hlth, London WC1, England
关键词
MATERNAL UNIPARENTAL DISOMY; IMPRINTING CENTER REGION; IN-VITRO FERTILIZATION; HUMAN-CHROMOSOME; 7Q32; HUMAN GRB10; INCLUDING GRB10; NO EVIDENCE; 11P15; METHYLATION; GENE;
D O I
10.1136/jmg.2009.071316
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:150 / 154
页数:5
相关论文
共 44 条
[1]   The genetic aetiology of Silver-Russell syndrome [J].
Abu-Amero, S. ;
Monk, D. ;
Frost, J. ;
Preece, M. ;
Stanier, P. ;
Moore, G. E. .
JOURNAL OF MEDICAL GENETICS, 2008, 45 (04) :193-199
[2]   Determination of KCNQ1OT1 and H19 methylation levels in BWS and SRS patients using methylation-sensitive high-resolution melting analysis [J].
Alders, Marielle ;
Bliek, Jet ;
van der Lip, Karin ;
van der Bogaard, Ruud ;
Mannens, Marcel .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (04) :467-473
[3]   A review of known imprinting syndromes and their association with assisted reproduction technologies [J].
Amor, David J. ;
Halliday, Jane .
HUMAN REPRODUCTION, 2008, 23 (12) :2826-2834
[4]   Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes [J].
Bartholdi, D. ;
Krajewska-Walasek, M. ;
Ounap, K. ;
Gaspar, H. ;
Chrzanowska, K. H. ;
Ilyana, H. ;
Kayserili, H. ;
Lurie, I. W. ;
Schinzel, A. ;
Baumer, A. .
JOURNAL OF MEDICAL GENETICS, 2009, 46 (03) :192-197
[5]   The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome [J].
Bentley, L ;
Nakabayashi, K ;
Monk, D ;
Beechey, C ;
Peters, J ;
Birjandi, Z ;
Khayat, FE ;
Patel, M ;
Preece, MA ;
Stanier, P ;
Scherer, SW ;
Moore, GE .
JOURNAL OF MEDICAL GENETICS, 2003, 40 (04) :249-256
[6]   No Evidence for Mutations of CTCFL/BORIS in Silver-Russell Syndrome Patients with IGF2/H19 Imprinting Control Region 1 Hypomethylation [J].
Bernier-Latmani, Jeremiah ;
Baumer, Alessandra ;
Shaw, Phillip .
PLOS ONE, 2009, 4 (08)
[7]   The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration [J].
Binder, Gerhard ;
Seidel, Ann-Kathrin ;
Martin, David D. ;
Schweizer, Roland ;
Schwarze, C. Philipp ;
Wollmann, Hartmut A. ;
Eggermann, Thomas ;
Ranke, Michael B. .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (04) :1402-1407
[8]   Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion [J].
Blagitko, N ;
Mergenthaler, S ;
Schulz, U ;
Wollmann, HA ;
Craigen, W ;
Eggermann, T ;
Ropers, HH ;
Kalscheuer, VM .
HUMAN MOLECULAR GENETICS, 2000, 9 (11) :1587-1595
[9]   Hypomethylation of the h19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype [J].
Bliek, J ;
Terhal, P ;
van den Bogaard, MJ ;
Maas, S ;
Hamel, B ;
Salieb-Beugelaar, G ;
Simon, M ;
Letteboer, T ;
van der Smagt, J ;
Kroes, H ;
Mannens, M .
AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (04) :604-614
[10]   Clinically Distinct Epigenetic Subgroups in Silver-Russell Syndrome: The Degree of H19 Hypomethylation Associates with Phenotype Severity and Genital and Skeletal Anomalies [J].
Bruce, Sara ;
Hannula-Jouppi, Katariina ;
Peltonen, Jari ;
Kere, Juha ;
Lipsanen-Nyman, Marita .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2009, 94 (02) :579-587