Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome

被引：57

作者：

Bullman, H. ^{[1
]}

Lever, M. ^{[1
]}

Robinson, D. O. ^{[1
,2
]}

Mackay, D. J. G. ^{[1
,2
]}

Holder, S. E. ^{[3
]}

Wakeling, E. L. ^{[3
]}

机构：

[1] Salisbury Dist Hosp, Wessex Reg Genet Lab, Salisbury SP2 8BJ, Wilts, England

[2] Univ Southampton, Div Human Genet, Southampton, Hants, England

[3] Kennedy Galton Ctr, N W Thames Reg Genet Serv, Northwick Pk & St Marks NHS Trust, Harrow, Middx, England

来源：

JOURNAL OF MEDICAL GENETICS | 2008年 / 45卷 / 06期

关键词：

D O I：

10.1136/jmg.2007.057059

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised mainly by intrauterine and postnatal growth retardation. While maternal uniparental disomy of chromosome 7 is found in 5-10% of SRS patients, recently genetic and epigenetic mutations affecting the imprinting centres on chromosome 11p15 have been reported in up to 64% of patients. Chromosome 11p15 abnormalities reported in SRS include methylation defects in the imprinting centre 1 (ICR1) and maternally inherited duplications involving all or part of the imprinted region of 11p15. Here we report the first published case of SRS with mosaic maternal uniparental disomy of chromosome 11.

引用

页码：396 / 399

页数：4

共 13 条

[1]

ABUAMERO S, 2007, J MED GENET 1221

[2] 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

[3] Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome [J].

Cooper, Wendy N. ;

Curley, Rebecca ;

Macdonald, Fiona ;

Maher, Eamonn R. .

GENOMICS, 2007, 89 (05) :613-617

[4] Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain [J].

Eggermann, T ;

Schönherr, N ;

Meyer, E ;

Obermann, C ;

Mavany, M ;

Eggermann, K ;

Ranke, MB ;

Wollmann, HA .

JOURNAL OF MEDICAL GENETICS, 2006, 43 (07) :615-616

[5] Is maternal duplication of 11p15 associated with Silver-Russell syndrome? -: art. no. e26 [J].

Eggermann, T ;

Meyer, E ;

Obermann, C ;

Heil, I ;

Schüler, H ;

Ranke, MB ;

Eggermann, K ;

Wollmann, HA .

JOURNAL OF MEDICAL GENETICS, 2005, 42 (05)

[6] Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy [J].

Eggermann, T ;

Wollmann, HA ;

Kuner, R ;

Eggermann, K ;

Enders, H ;

Kaiser, P ;

Ranke, MB .

HUMAN GENETICS, 1997, 100 (3-4) :415-419

[7] Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation [J].

Fisher, AM ;

Thomas, NS ;

Cockwell, A ;

Stecko, O ;

Kerr, B ;

Temple, IK ;

Clayton, P .

HUMAN GENETICS, 2002, 111 (03) :290-296

[8] Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome [J].

Gicquel, C ;

Rossignol, S ;

Cabrol, S ;

Houang, M ;

Steunou, V ;

Barbu, V ;

Danton, F ;

Thibaud, N ;

Le Merrer, M ;

Burglen, L ;

Bertrand, AM ;

Netchine, I ;

Le Bouc, Y .

NATURE GENETICS, 2005, 37 (09) :1003-1007

[9] A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus [J].

Mackay, D. J. G. ;

Boonen, S. E. ;

Clayton-Smith, J. ;

Goodship, J. ;

Hahnemann, J. M. D. ;

Kant, S. G. ;

Njolstad, P. R. ;

Robin, N. H. ;

Robinson, D. O. ;

Siebert, R. ;

Shield, J. P. H. ;

White, H. E. ;

Temple, I. K. .

HUMAN GENETICS, 2006, 120 (02) :262-269

[10] Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus [J].

Mackay, DJG ;

Hahnemann, JMD ;

Boonen, SE ;

Poerksen, S ;

Bunyan, DJ ;

White, HE ;

Durston, VJ ;

Thomas, NS ;

Robinson, DO ;

Shield, JPH ;

Clayton-Smith, J ;

Temple, IK .

HUMAN GENETICS, 2006, 119 (1-2) :179-184

← 1 2 →