Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

被引：53
作者：
Mackay, DJG [1 ]
Hahnemann, JMD
Boonen, SE
Poerksen, S
Bunyan, DJ
White, HE
Durston, VJ
Thomas, NS
Robinson, DO
Shield, JPH
Clayton-Smith, J
Temple, IK
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 Inst, Natl Eye Clin, Med Genet Lab Ctr, Glostrup, Denmark
[4] Glostrup Univ Hosp, Dept Paediat, Glostrup, Denmark
[5] Natl Genet Reference Lab, Salisbury, Wilts, England
[6] Univ Bristol, Bristol Royal Hosp Children, Bristol, Avon, England
[7] St Marys Hosp, Acad Dept Med Genet, Manchester M13 0JH, Lancs, England
[8] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England
来源：
HUMAN GENETICS | 2006年 / 119卷 / 1-2期
关键词：
transient neonatal diabetes mellitus; Beckwith-Wiedemann syndrome; imprinting; loss of methylation; methylation-specific PCR; pyrosequencing;
D O I：
10.1007/s00439-005-0127-4
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Transient neonatal diabetes mellitus (TNDM) is characterised by intra-uterine growth retardation, while Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome. Both TNDM and BWS may be caused by aberrant loss of methylation (LOM) at imprinted loci on chromosomes 6q24 and 11p15.5 respectively. Here we describe two patients with a clinical diagnosis of TNDM caused by LOM at the maternally methylated imprinted domain on 6q24; in addition, these patients had LOM at the centromeric differentially methylated region of 11p15.5. This shows that imprinting anomalies can affect more than one imprinted locus and may alter the clinical presentation of imprinted disease.
引用
收藏
页码：179 / 184
页数：6
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