Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.

FitzPatrick, David R.; Strain, Lisa; Thomas, A.; Barr, Di; Todd, Adam; Smith, Nicholas M.; Scobie, W.G.

doi:10.1136/jmg.34.8.666

Cited by 26 publications

(11 citation statements)

References 6 publications

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“…These include a locus in Xq28 13,14 and three identified genes, namely the TP/ECGF1 gene, 16 POLG, 17 and SOX10. 18 Notably, the three patients (two brothers and one maternal uncle) reported by FitzPatrick et al 14 were affected by syndromic CIIP associated with patent ductus arteriosus and thrombocytopenia with large platelets (detected only in the two brothers). Molecular studies in these patients showed an Xq28 haplotype segregating with the disease.…”

Section: Discussionmentioning

confidence: 99%

“…Two main forms of CIIP are recognized, respectively labeled as myogenic (when smooth muscle cells are affected) or neurogenic (when caused by abnormalities of the enteric nervous system). 8,9 Most patients do not show familial recurrence (sporadic cases) but syndromic autosomal-dominant, 10,11 autosomalrecessive, 12 and X-linked 13,14 forms have been described. In particular, an X-linked locus has been mapped to the Xq28 region.…”

Section: Introductionmentioning

confidence: 99%

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A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24

et al. 2007

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Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare and severe clinical syndrome characterized by symptoms and signs of intestinal occlusion, in the absence of any mechanical obstruction of the gut lumen. In the attempt to identify the genetic basis of CIIP, we analyzed a Turkish pedigree with a high degree of consanguinity in which three siblings presented with a syndromic form of CIIP. All affected family members were characterized by recurrent, self-limiting subocclusive episodes, long-segment Barrett esophagus, and a variety of minor cardiac valve or septal defects. In some patients full-thickness intestinal biopsy samples were obtained and tissues were processed for immunohistochemistry using antibodies to different markers of the intestinal neuromuscular tract. Full-thickness biopsies of the gut wall showed abnormalities of both the neural and muscular components suggesting an underlying intestinal neuromyopathy. Blood samples were collected for DNA extraction from each available family member and DNAs were genotyped using 382 microsatellites spanning the entire genome with the aim to take advantage of the homozygosity mapping approach. Linkage analysis identified a new syndromic locus on chromosome 8q23-q24 (multipoint LOD score ¼ 5.01). Our data strongly support the presence of a new genetic locus associated with CIIP, long-segment Barrett esophagus, and cardiac involvement on chromosome 8.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24

et al. 2007

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“…Für wenige, sehr seltene erbliche Krankheitsbilder sind mittlerweile die verantwortlichen Genorte bzw. -defekte bekannt [3,4]. Die vielfältigen möglichen Ursachen einer CIPO sind in Tab.…”

Section: ¾Tiologie Und Pathophysiologieunclassified

Die chronische intestinale Pseudoobstruktion: Pathogenese, Diagnostik und Therapie

Keller

Layer

2002

Z Gastroenterol

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Chronic intestinal pseudo-obstruction (CIPO) is a rare disease in which a severe intestinal motility disorder impairs transit of chyme so that patients suffer from symptoms of a mechanical ileus without mechanical obstruction. CIPO may be a primary or secondary disorder due to muscular, neurologic, metabolic or endocrine disorders, but may also occur postinfectiously, postoperatively, following abdominal radiation or be caused by drugs or noxae. In severe cases, the typical history of (repeated) symptoms of mechanical obstruction leading to unsuccessful laparotomies will give key clues for diagnosis. If CIPO is suspected, mechanical obstruction must be searched for carefully by radiologic and endoscopic examinations. Histologic diagnosis usually demands full thickness biopsies of the intestinal wall. Small intestinal manometry allows diagnosis of CIPO even during oligosymptomatic intervals as well as differentiation between neuropathic and myopathic forms of the disease. The main therapeutic goals consist in: 1. Maintenance of an adequate nutritional state by oral and/or enteral nutrition; in severe cases home-parenteral nutrition may be required and particularly in children intestinal transplantation may be the ultima ratio. 2. Reconstitution of intestinal propulsion by prokinetic drugs. 3. Therapy of complications such as bacterial overgrowth and severe pain by antibiotics and specific surgical procedures. Unnecessary laparotomies should be strictly avoided because they may lead to adhesions and markedly complicate the clinical course.

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“…Besides causing X-linked valvular dystrophy, FLNA mutations can also cause X-linked periventricular nodular heterotopia (OMIM 300017), X-linked chronic idiopathic intestinal pseudo-obstruction (OMIM 300048), otopalatodigital syndrome types I and II (OMIM 311300), Melnick-Needles syndrome (OMIM 309350), frontometaphyseal dysplasia (OMIM 305620), and FG syndrome-2 (OMIM 300321). Cardiac defects have been described in these diseases, for example aortic coarctation, aortic dilatation, aortic regurgitation, aortic stenosis, double outlet right ventricle, hypoplastic left ventricle, left ventricular non-compaction, mitral atresia, MVP, patent ductus arteriosus, and tricuspid valve prolapse [Park et al, 1986;Kruger et al, 1991;FitzPatrick et al, 1997;Wong and Bofinger, 1997;Sheen et al, 2005]. Although there are many (unknown) causes of these cardiac defects other than FLNA mutations, screening for FLNA mutations could be considered in unexplained cases, and in particular in the case of suspected X-linked inheritance.…”

Section: Discussionmentioning

confidence: 99%

Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse

Aalberts

Tintelen

Oomen

et al. 2013

American J of Med Genetics Pt A

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So far only mutations in the filamin A gene (FLNA) have been identified as causing familial mitral valve prolapse (MVP). Previous studies have linked dysregulation of the transforming growth factor beta (TGF-β) cytokine family to MVP. We investigated whether mutations in the TGF-β receptors genes type I (TGFBR1) and II (TGFBR2) underlie isolated familial MVP cases. Eight families with isolated familial MVP were evaluated clinically and genetically. Ventricular arrhythmias were present in five of the eight families and sudden cardiac death occurred in six patients. Tissue obtained during mitral valve surgery or autopsy was available for histological examination in six cases; all demonstrated myxomatous degeneration. A previously described FLNA missense mutation (p.G288R) was identified in one large family, but no mutations were discovered in TGFBR1 or TGFBR2. An FLNA missense mutation was identified in one family but we found no TGFBR1 or TGFBR2 mutations. Our results suggest that TGFBR1 and TGFBR2 mutations do not play a major role in isolated myxomatous valve dystrophy. Screening for FLNA mutations is recommended in familial myxomatous valvular dystrophy, particularly if X-linked inheritance is suspected.

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Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.

Cited by 26 publications

References 6 publications

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24

A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24

Die chronische intestinale Pseudoobstruktion: Pathogenese, Diagnostik und Therapie

Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse

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