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

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.

Interaction of Phospholipase A/Acyltransferase-3 with Pex19p

“…It has been reported that these proteins are related to various diseases, such as cancers (16,17), obesity (18,19), and Poland syndrome, a rare disorder characterized by hypoplasia/aplasia of the pectoralis major muscle (20). We and others have demonstrated that all of these members function as enzymes with phospholipase A 1/2 (PLA 1/2 ) and phospholipid acyltransferase activities (21)(22)(23)(24)(25)(26).…”

Deletion of 11q12.3–11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

“…Deletions of this region are very rare and to date only two patients with deletions overlapping with the present case have been reported in the literature (Mohrmann et al, 2011;Vaccari et al, 2014) (Fig. 1E, Table 1).…”

“…Deletions including the chromosome region 11q12.3-11q13.1 are very rare and to date only two cases with overlapping deletions have been described in the literature (Mohrmann et al, 2011;Vaccari et al, 2014). One of the patients has a de novo 0.57 Mb deletion at 11q13.…”

“…The other deletion is 126 kb de novo variation at 11q12. 3 (chr11:63,216,306-63,342,369) identified in monozygotic twin girls with Poland Syndrome (PS) (Vaccari et al, 2014).…”

Poland’s syndrome

“…Нарушение данных механизмов развития может привести, помимо нарушения дифференцировки мышечных клеток и к онкологическим заболеваниям [8].…”