De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome

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• 作者：Carlotta Maria Vaccari (1)
  Maria Victoria Romanini (2)
  Ilaria Musante (1)
  Elisa Tassano (3)
  Stefania Gimelli (4)
  Maria Teresa Divizia (3)
  Michele Torre (5)
  Carmen Gloria Morovic (6)
  Margherita Lerone (3)
  Roberto Ravazzolo (1) (3) (7)
  Aldamaria Puliti (1) (3) (7)
  
  1. Department of Neurosciences ; Rehabilitation ; Ophthalmology ; Genetics ; Maternal and Child Health (DiNOGMI) ; University of Genoa ; Genoa ; Italy
  2. Plastic and Reconstructive Surgery Unit ; IST - San Martino Hospital and University of Genoa ; Genoa ; Italy
  3. Medical Genetics Unit ; Istituto Giannina Gaslini ; via G. Gaslini 5 ; 16148 ; Genoa ; Italy
  4. Service of Genetic Medicine ; University Hospitals of Geneva ; Geneva ; Switzerland
  5. Pediatric Surgery Unit ; Istituto Giannina Gaslini ; Genoa ; Italy
  6. Pediatric Plastic Surgery Unit ; Dr. Luis Calvo Mackenna Hospital ; Santiago ; Chile
  7. CEBR ; University of Genoa ; Genoa ; Italy
  
• 关键词：Chromosome 11q deletion ; Congenital abnormalities ; Monozygotic twins ; Poland syndrome ; CNV ; HRASLS5 ; HRASLS2 ; RARRES3 ; PLA2G16
• 刊名：BMC Medical Genetics
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：15
• 期：1
• 全文大小：389 KB
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  33. The pre-publication history for this paper can be accessed here: http://www.biomedcentral.com/1471-2350/15/63/prepub
  
• 刊物主题：Human Genetics; Genetics and Population Dynamics;
• 出版者：BioMed Central
• ISSN：1471-2350

文摘

Background Poland Syndrome (PS) is a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle, variably associated with thoracic and upper limb anomalies. Familial recurrence has been reported indicating that PS could have a genetic basis, though the genetic mechanisms underlying PS development are still unknown. Case presentation Here we describe a couple of monozygotic (MZ) twin girls, both presenting with Poland Syndrome. They carry a de novo heterozygous 126 Kbp deletion at chromosome 11q12.3 involving 5 genes, four of which, namely HRASLS5, RARRES3, HRASLS2, and PLA2G16, encode proteins that regulate cellular growth, differentiation, and apoptosis, mainly through Ras-mediated signaling pathways. Conclusions Phenotype concordance between the monozygotic twin probands provides evidence supporting the genetic control of PS. As genes controlling cell growth and differentiation may be related to morphological defects originating during development, we postulate that the observed chromosome deletion could be causative of the phenotype observed in the twin girls and the deleted genes could play a role in PS development.