Duplication of 20p12.3 associated with familial Wolff-Parkinson-White syndrome

作者：Mills Kimberly I; Anderson Jacqueline; Levy Philip T; Cole F Sessions; Silva Jennifer N A; Kulkarni Shashikant; Shinawi Marwan^*

来源：American Journal of Medical Genetics, Part A, 2013, 161A(1): 137-144.

DOI：10.1002/ajmg.a.35701

• Wolff-Parkinson-White syndrome
• non-immune hydrops
• 20p12.3
• duplication
• chromosomal microarray analysis
• BMP2
• PLCB1
• TMX4

WolffParkinsonWhite (WPW) syndrome is caused by preexcitation of the ventricular myocardium via an accessory pathway which increases the risk for paroxysmal supraventricular tachycardia. The condition is often sporadic and of unknown etiology in the majority of cases. Autosomal dominant inheritance and association with congenital heart defects or ventricular hypertrophy were described. Microdeletions of 20p12.3 have been associated with WPW syndrome with either cognitive dysfunction or Alagille syndrome. Here, we describe the association of 20p12.3 duplication with WPW syndrome in a patient who presented with non-immune hydrops. Her paternal uncle carries the duplication and has attention-deficit hyperactivity disorder and electrocardiographic findings consistent with WPW. The 769?kb duplication was detected by the Affymetrix Whole Genome-Human SNP Array 6.0 and encompasses two genes and the first two exons of a third gene. We discuss the potential role of the genes in the duplicated region in the pathogenesis of WPW and possible neurobehavioral abnormalities. Our data provide additional support for a significant role of 20p12.3 chromosomal rearrangements in the etiology of WPW syndrome.

• 出版日期2013-1