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

BMC Medical Genetics

Aldamaria Puliti²  Roberto Ravazzolo²  Margherita Lerone¹  Carmen Gloria Morovic³  Michele Torre⁶  Maria Teresa Divizia¹  Stefania Gimelli⁷  Elisa Tassano¹  Ilaria Musante⁵  Maria Victoria Romanini⁴  Carlotta Maria Vaccari⁵ 

[1] Medical Genetics Unit, Istituto Giannina Gaslini, via G. Gaslini 5, 16148, Genoa, Italy;CEBR, University of Genoa, Genoa, Italy;Pediatric Plastic Surgery Unit, Dr. Luis Calvo Mackenna Hospital, Santiago, Chile;Plastic and Reconstructive Surgery Unit, IST - San Martino Hospital and University of Genoa, Genoa, Italy;Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy;Pediatric Surgery Unit, Istituto Giannina Gaslini, Genoa, Italy;Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland

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

Others  :  1091596
DOI  :  10.1186/1471-2350-15-63

 received in 2013-10-30, accepted in 2014-05-23,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 Vaccari et al.; licensee BioMed Central Ltd.

【 图 表 】

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