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Open Access Case report

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

Carlotta Maria Vaccari1, Maria Victoria Romanini2, Ilaria Musante1, Elisa Tassano3, Stefania Gimelli4, Maria Teresa Divizia3, Michele Torre5, Carmen Gloria Morovic6, Margherita Lerone3, Roberto Ravazzolo137 and Aldamaria Puliti137*

  • * Corresponding author: Aldamaria Puliti apuliti@unige.it

  • † Equal contributors

Author Affiliations

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

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BMC Medical Genetics 2014, 15:63  doi:10.1186/1471-2350-15-63

Published: 30 May 2014

Abstract

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.

Keywords:
Chromosome 11q deletion; Congenital abnormalities; Monozygotic twins; Poland syndrome; CNV; HRASLS5; HRASLS2; RARRES3; PLA2G16