Concordant prune belly syndrome in monozygotic twins

Balaji, K.C.; Patil, Ashwinikumar; Townes, Phillip L.; Primack, William A.; Skare, James; Hopkins, Timothy B.

doi:10.1016/s0090-4295(00)00452-0

Cited by 32 publications

(29 citation statements)

References 4 publications

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“…PBS may result from defective mesodermal development [15], which is consistent with the respective timings of the epigenetic and twinning anomaly in the affected twins. Although the etiology of PBS is unclear, a genetic basis has been hypothesized [2,16], and a sex-influenced autosomal recessive inheritance pattern is possible [18]. However, the majority of the cases are sporadic, and discordance in monozygotic twins has also been reported [7].…”

Section: Discussionmentioning

confidence: 99%

“…However, the majority of the cases are sporadic, and discordance in monozygotic twins has also been reported [7]. Moreover, there is an increased incidence of PBS in twins, four times higher than that found in singletons, underscoring that the intrauterine environment is important in the etiology [2]. The condition has been reported in association with diverse chromosomal anomalies, but most patients have had normal karyotypes.…”

Section: Discussionmentioning

confidence: 99%

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DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

et al. 2009

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One known genetic mechanism for transient neonatal diabetes is loss of methylation at 6q24. The etiology of prune belly sequence is unknown but a genetic defect, affecting the mesoderm from which the triad abdominal muscle hypoplasia, urinary tract abnormalities, and cryptorchidism develop, has been suggested. We investigated a family, including one twin, with transient neonatal diabetes and prune belly sequence. Autoantibody tests excluded type 1 diabetes. Microsatellite marker analysis confirmed the twins being monozygotic. We identified no mutations in ZFP57, KCNJ11, ABCC8, GCK, HNF1A, HNF1B, HNF3B, IPF1, PAX4, or ZIC3. The proband had loss of methylation at the 6q24 locus TNDM and also at the loci IGF2R, DIRAS3, and PEG1, while the other family members, including the healthy monozygotic twin, had normal findings. The loss of methylation on chromosome 6q24 and elsewhere may indicate a generalized maternal hypomethylation syndrome, which accounts for both transient neonatal diabetes and prune belly sequence.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

et al. 2009

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“…The smooth muscle fibers and glands of the prostate are reduced. PBS is known to be causally heterogeneous: most cases are sporadic (with a M/F sex ratio of 19:1), but autosomal recessive, autosomal dominant, and X-linked pedigrees have been reported [Grenet et al, 1972;Adeyokunnu and Familusi, 1982;Gaboardi et al, 1982;Darmon et al, 1992;Balaji et al, 2000;Chan and Bird, 2004;Ramasamy et al, 2005]. Epigenetic form of PBS have been reported, such as hypomethylation of KCNQ1OT1 gene in the association of prune belly and Beckwith Wiedemann syndrome [Sinico et al, 2004] or multiple loss of methylation in 6q24 (TNDM) and also at the loci of IGF2R (6q26), DIRAS3 (1p31), and PEG1 (7q32) in a monozygotic twin with prune belly and transient neonatal diabetes [Laborie et al, 2010].…”

Section: Introductionmentioning

confidence: 99%

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

Gérard-Blanluet

Port-Lis²,

Baumann

et al. 2010

American J of Med Genetics Pt A

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Prune-belly sequence (PBS) usually results from early urethral obstruction. In rare cases, PBS seems to be due to a faulty primary development of the parietal mesenchyme leading to underdevelopment of the abdominal wall musculature, and disorganization of the smooth muscles in the urinary tract. We report on two patients with segmental, unilateral wall musculature deficiency associated with homolateral agenesis of ribs. One patient also had hemivertebrae and the other one ipsilateral diaphragmatic eventration and aplasia cutis. This combination of anomalies may represent a localized deficiency in the development of somitic mesoderm mesenchyme during early embryogenesis.

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“…Interestingly, in cases of monozygotic twins, both discordance and concordance for PBS has been reported, implying that inherited genetic mutations alone cannot explain the pathogenesis of PBS [8,13,14].…”

Section: Epidemiologymentioning

confidence: 99%

Prune belly syndrome

2011

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The majority of paediatric surgeons will encounter a patient with prune belly syndrome (PBS) only a few times in their clinical practice. There have been many opposing views in the literature regarding the pathogenesis and management of this complex condition. A detailed review was conducted using PubMed to identify key publications involving PBS. This article discusses the evolution of our understanding of the pathogenesis and diagnosis of PBS, including its typical characteristics. We describe the management options available for bilateral intra-abdominal testes, the deficient abdominal wall, the dilated urinary system and examine the evidence base used to support the current approaches employed.

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Concordant prune belly syndrome in monozygotic twins

Cited by 32 publications

References 4 publications

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

DNA hypomethylation, transient neonatal diabetes, and prune belly sequence in one of two identical twins

Unilateral agenesis of the abdominal wall musculature: An early muscle deficiency

Prune belly syndrome

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