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

Carlotta M. Vaccari, Maria V. Romanini, Ilaria Musante, Elisa Tassano, Stefania Gimelli, Maria T. Divizia, Michele Torre, Carmen G. Morovic, Margherita Lerone, Roberto Ravazzolo, Aldamaria Puliti

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish
Article number63
JournalBMC Medical Genetics
Volume15
Issue number1
DOIs
Publication statusPublished - May 30 2014

Fingerprint

Poland Syndrome
Chromosome Deletion
Monozygotic Twins
Pectoralis Muscles
Genes
Phenotype
Growth
Upper Extremity
Cell Differentiation
Thorax
Apoptosis
Recurrence

Keywords

  • Chromosome 11q deletion
  • CNV
  • Congenital abnormalities
  • HRASLS2
  • HRASLS5
  • Monozygotic twins
  • PLA2G16
  • Poland syndrome
  • RARRES3

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome. / Vaccari, Carlotta M.; Romanini, Maria V.; Musante, Ilaria; Tassano, Elisa; Gimelli, Stefania; Divizia, Maria T.; Torre, Michele; Morovic, Carmen G.; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Aldamaria.

In: BMC Medical Genetics, Vol. 15, No. 1, 63, 30.05.2014.

Research output: Contribution to journalArticle

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AU - Tassano, Elisa

AU - Gimelli, Stefania

AU - Divizia, Maria T.

AU - Torre, Michele

AU - Morovic, Carmen G.

AU - Lerone, Margherita

AU - Ravazzolo, Roberto

AU - Puliti, Aldamaria

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