Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities

Mungan, Zeynel; Akyüz, Filiz; Buğra, Zehra; Yönal, Oya; Öztürk, Şükrü; Acar, Arif; Çevikbaş, Uğur

doi:10.1111/j.1572-0241.2003.08707.x

Cited by 29 publications

(16 citation statements)

References 16 publications

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“…Finally, in a consanguineous Turkish family, we have demonstrated an autosomal recessive idiopathic form of CIPO in addition to megaduodenum, long-segment Barrett esophagus, and different cardiac abnormalities of variable severity identifiable in the affected members (OMIM 611376; Mungan syndrome) (Mungan et al 2003 ). Notably, full-thickness intestinal biopsies from two affected individuals revealed a severe reduction of the myenteric and submucosal neurons, suggesting an underlying intestinal neuro-myopathy.…”

Section: Ens With Genetic Abnormalitiesmentioning

confidence: 94%

Enteric neuropathies: Yesterday, Today and Tomorrow

Giorgio

Bianco

Latorre

et al. 2016

Advances in Experimental Medicine and Biology

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Enteric neuropathy is a term indicating an impairment of the innervation supplying the gastrointestinal tract. The clinical phenotypes of the enteric neuropathies are the 'tip of the iceberg' of severe functional digestive diseases, such as intestinal pseudo-obstruction syndromes (e.g., chronic intestinal pseudo-obstruction). Despite progress acquired over the years, the pathogenetic mechanisms leading to enteric neuropathies are still far from being elucidated and the therapeutic approaches to these patients are mainly supportive, rather than curative.The purpose of this chapter is to review the advancements that have been done in the knowledge of enteric neuropathies identified in adult patients ('tomorrow'), going through where we currently are ('today') following a brief history of the major milestones on the pioneering discoveries in the field ('yesterday')

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Section: Ens With Genetic Abnormalitiesmentioning

confidence: 94%

Enteric neuropathies: Yesterday, Today and Tomorrow

Giorgio

Bianco

Latorre

et al. 2016

Advances in Experimental Medicine and Biology

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“…CdLS is characterized by distinct facial features, growth delay, microcephaly, limb reduction defects, intellectual disability (ID) and behavioral problems, especially self-injurious behavior (SIB) and autism spectrum disorder (ASD) (Kline et al 2018). RAD21 variants have also been associated with sclerocornea (Zhang et al 2019) and Mungan syndrome (Chronic Idiopatic Intestinal Pseudoobstruction; OMIM #611376, in patients with biallelic RAD21 variants) (Bonora et al 2015;Mungan et al 2003), each in a single family in which no remarks on CdLS features were made in the report. Loss of function-variants in cohesin genes including RAD21 were found in individuals with holoprosencephaly of whom some demonstrated CdLS features as well (Kruszka et al 2019).…”

Section: Introductionmentioning

confidence: 99%

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

et al. 2020

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RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants and genotype-phenotype relationships is currently published. We gathered a series of 49 individuals from 33 families with RAD21 alterations [24 different intragenic sequence variants (2 recurrent), 7 unique microdeletions], including 24 hitherto unpublished cases. We evaluated consequences of 12 intragenic variants by protein modelling and molecular dynamic studies. Full clinical information was available for 29 individuals. Their phenotype is an attenuated CdLS phenotype compared to that caused by variants in NIPBL or SMC1A for facial morphology, limb anomalies, and especially for cognition and behavior. In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. We describe several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. Variants were frequently familial, and genotype-phenotype analyses demonstrated striking interfamilial and intrafamilial variability. Careful phenotyping is essential in interpreting consequences of RAD21 variants, and protein modeling and dynamics can be helpful in determining pathogenicity. The current study should be helpful when counseling families with a RAD21 variation.Zeynep Tümer and Raoul C. Hennekam contributed equally.

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“…The purpose of this article is to provide a broad review of CIPO ranging from pediatric to adult age highlighting selectively the main clinical aspects such as symptoms/signs, diagnosis and therapeutic options in the different age groups. Deliberately, we did not address the putative mechanisms underlying severe gut dysfunction and the attendant histopathological features and the reader is referred to published comprehensive articles on these topics (references ). In Table we have summarized the classification of CIPO in relation to etiopathogenetic factors.…”

Section: Introductionmentioning

confidence: 99%

Chronic intestinal pseudo‐obstruction in children and adults: diagnosis and therapeutic options

Nardo¹,

Lorenzo

Lauro

et al. 2016

Neurogastroenterology Motil

109

139

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The present article aims to provide pediatric and adult gastroenterologists with an up to date review about clinical features, diagnosis and therapeutic options for CIPO. Although pediatric and adult CIPO share many clinical aspects distinctive features can be identified. There is no single diagnostic test or pathognomonic finding of CIPO, thus a stepwise approach including radiology, endoscopy, laboratory, manometry, and histopathology should be considered in the diagnostic work-up. Treatment of patients with CIPO is challenging and requires a multidisciplinary effort with participation of appropriately experienced gastroenterologists, pathologists, dieticians, surgeons, psychologists, and other subspecialists based on the presence of comorbidities. Current treatment options invariably involve surgery and specialized nutritional support, especially in children. Medical therapies are mainly aimed to avoid complications such as sepsis or intestinal bacterial overgrowth and, where possible, restore intestinal propulsion. More efficacious therapeutic options are eagerly awaited for such difficult patients.

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Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities

Cited by 29 publications

References 16 publications

Enteric neuropathies: Yesterday, Today and Tomorrow

Enteric neuropathies: Yesterday, Today and Tomorrow

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

Chronic intestinal pseudo‐obstruction in children and adults: diagnosis and therapeutic options

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