The prune belly anomaly: heterogeneity and superficial X-linkage mimicry.

Riccardi, Vincent M.; Grum, Cyril M.

doi:10.1136/jmg.14.4.266

Cited by 29 publications

(9 citation statements)

References 22 publications

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“…Second, > 95% of cases are male. Lastly, there have been 12 published multiplex pedigrees without causal genes identified in most [19][20][21][23][24][25][26][27][28][29][30][31]. More recently, five autosomal genes, including CHRM3, HNF1β, ACTA2, ACTG2 and STIM1, have been reported with potentially causal DNA variants, including structural, copy number, and single nucleotide variants, however these genes each only account for one or two PBS cases or one PBS multiplex consanguineous kindred [32][33][34][35][36][37][38].…”

Section: Introductionmentioning

confidence: 99%

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

et al. 2020

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Background: Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy primarily affecting males that is poorly described genetically. Phenotypically, its morbidity spans from mild to lethal, however, all isolated PBS cases manifest three cardinal pathological features: 1) wrinkled flaccid ventral abdominal wall with skeletal muscle deficiency, 2) urinary tract dilation with poorly contractile smooth muscle, and 3) intra-abdominal undescended testes. Despite evidence for a genetic basis, previously reported PBS autosomal candidate genes only account for one consanguineous family and single cases. Methods: We performed whole exome sequencing (WES) of two maternal adult half-brothers with syndromic PBS (PBS + Otopalatodigital spectrum disorder [OPDSD]) and two unrelated sporadic individuals with isolated PBS and further functionally validated the identified mutations. Results: We identified three unreported hemizygous missense point mutations in the X-chromosome gene Filamin ) in two related cases and two unrelated sporadic individuals. Two of the three PBS mutations map to the highly regulatory, stretch-sensing Ig19-21 region of FLNA and enhance binding to intracellular tails of the transmembrane receptor β-integrin 1 (ITGβ1). Conclusions: FLNA is a regulatory actin-crosslinking protein that functions in smooth muscle cells as a mechanosensing molecular scaffold, transmitting force signals from the actin-myosin motor units and cytoskeleton via binding partners to the extracellular matrix. This is the first evidence for an X-linked cause of PBS in multiple unrelated individuals and expands the phenotypic spectrum associated with FLNA in males surviving even into adulthood.

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Section: Introductionmentioning

confidence: 99%

Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

et al. 2020

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“…The most unusual finding in our patient was the open defect of the anterior abdominal wall. Omphalocele is observed rarely in association with the prune belly syndrome [Riccardi and Grum, 1977;Cremin, 19711 and gastroschisis has been noted in a single case v i l l e r t et al, 19781, but the defect in this case was quite different from either of these. A similar defect was reported in a patient described by Carey et a1 [1982] although it was noted in that case that urine could be easily expressed through the opening.…”

Section: Discussionmentioning

confidence: 58%

Prune belly syndrome: Observations supporting the hypothesis of abdominal overdistention

Burton

Dillard

1984

Am. J. Med. Genet.

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We report on an infant with the prune belly syndrome who was unusual in that the typical manifestations of the disorder were accompanied by an anterior abdominal wall defect. We speculate that this defect may have occurred as a result of splitting of the abdominal wall secondary to massive bladder dilatation and stretching of the abdominal muscles. An alternative explanation is that the defect may have been the result of secondary pressure necrosis from stretching forces or from contact with another structure, such as the cervix. This case lends further support to the hypothesis that bladder distention with overdistention of the abdomen may be the primary event leading to the findings observed in the prune belly syndrome.

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“…The incidence of the PBS is 1:40000 live births. Males are affected 20 times more often than females owing to transmission by superficial X‐linkage mimicry (4). It is thought that the abdominal laxity in the PBS is a simple deformation secondary to abdominal stretching and distension during fetal development (5).…”

Section: Discussionmentioning

confidence: 99%