Currarinos syndrom ved Rikshospitalet 1961 – 2012

Monclair, Tom; Lundar, Tryggve; Smevik, Bjarne; Holm, Ingunn; Ørstavik, Karen Helene

doi:10.4045/tidsskr.13.0352

Cited by 10 publications

(6 citation statements)

References 28 publications

(32 reference statements)

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“…, and (32) n/a n/a n/a n/a 36 (11), (18) (5) and (6) n/a n/a n/a n/a 1 (33) n/a, not available; pts, patients. a Precise characterization of the mutation not provided in some of the articles.…”

Section: Discussionmentioning

confidence: 99%

“…The syndrome is caused by haploinsufficiency of the MNX1 gene arising from either intragenic mutations or distal 7q deletions of different sizes . Mutations in MNX1 result in complex phenotypes including (i) hemisacrum or bifid sacrum with neurogenic bladder, recurrent urinary infections, or incontinence; (ii) presacral masses such as anterior meningocele, enteric cyst, or presacral teratoma; and (iii) anorectal malformations including atresia, stenosis, and fistula frequently complicated with chronic constipation or incontinence . Once this classical triad of Currarino syndrome is recognized, a thorough search for associated malformations and developmental difficulties as well as a genetic evaluation should be initiated.…”

Section: Discussionmentioning

confidence: 99%

“…Besides the classical Currarino triad, the most common malformations reported in patients with Currarino syndrome are terminal spinal cord malformations (e.g. low laying conus, short and thickened filum, tethered cord, and spinal lipoma) and urogenital anomalies . The available data from 150/188 patients with intragenic mutations and 12/17 patients with larger 7q deletions were analyzed.…”

Section: Discussionmentioning

confidence: 99%

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Phenotype analysis impacts testing strategy in patients with Currarino syndrome

et al. 2015

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Currarino syndrome (OMIM 175450) presents with sacral, anorectal, and intraspinal anomalies and presacral meningocele or teratoma. Autosomal dominant loss-of-function mutations in the MNX1 gene cause nearly all familial and 30% of sporadic cases. Less frequently, a complex phenotype of Currarino syndrome can be caused by microdeletions of 7q containing MNX1. Here, we report one familial and three sporadic cases of Currarino syndrome. To determine the most efficient genetic testing approach for these patients, we have compared results from MNX1 sequencing, chromosomal microarray, and performed a literature search with analysis of genotype-phenotype correlation. Based on the relationship between the type of mutation (intragenic MNX1 mutations vs 7q microdeletion) and the presence of intellectual disability, growth retardation, facial dysmorphism, and associated malformations, we propose a testing algorithm. Patients with the classic Currarino triad of malformations but normal growth, intellect, and facial appearance should have MNX1 sequencing first, and only in the event of a normal result should the clinician proceed with chromosomal microarray testing. In contrast, if growth delay and/or facial dysmorphy and/or intellectual disability are present, chromosomal microarray should be the first method of choice for genetic testing.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Phenotype analysis impacts testing strategy in patients with Currarino syndrome

et al. 2015

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“…As previously reported [2,18], the most frequent ARM in CS is the recto-perineal fistula, but other forms have been identified. Eight patients (8/24, 33%), presented the so-called "funnel anus" a characteristic feature of CS, that is a funnel-shaped anal canal, with a stenosis at the level of the dentate line [19], referred to as "anorectal stenosis" or "rectal stenosis" in our series. Constipation is a common finding in the presence or absence of an ARM [19][20][21]; although it can be ascribed to various factors, we believe, in accordance with previous reported data [2,22], that a dysganglionosis research should be performed in every CS patient affected by constipation.…”

Section: Discussionmentioning

confidence: 80%

Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study

Costanzo

Spaccini

Pio

et al. 2017

Journal of Pediatric Surgery

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“…In several studies, no difference between male and female frequency has been noted [ 17 , 22 , 36 , 37 ], whereas other reports listed a higher frequency of CS females [ 3 , 12 , 33 , 38 , 39 ]. Haga et al estimated a CS female-to-male ratio in adult cases of 6:1 and of 2:1 in pediatric cases, which may rely, at least in part, on the delayed diagnosis of mildly affected patients [ 40 ].…”

Section: Main Textmentioning

confidence: 99%

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

Dworschak

Reutter

Ludwig

2021

Orphanet J Rare Dis

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Background The triad of a presacral mass, sacral agenesis and an anorectal anomaly constitutes the rare Currarino syndrome (CS), which is caused by dorsal–ventral patterning defects during embryonic development. The major causative CS gene is MNX1, encoding a homeobox protein. Main body In the majority of patients, CS occurs as an autosomal dominant trait; however, a female predominance observed, implies that CS may underlie an additional mode(s) of inheritance. Often, the diagnosis of CS is established solely by clinical findings, impacting a detailed analysis of the disease. Our combined data, evaluating more than 60 studies reporting patients with CS-associated mutations, revealed a slightly higher incidence rate in females with a female-to-male ratio of 1.39:1. Overall, MNX1 mutation analysis was successful in only 57.4% of all CS patients investigated, with no mutation detected in 7.7% of the familial and 68% of the sporadic patients. Our studies failed to detect the presence of an expressed MNX1 isoform that might explain at least some of these mutation-negative cases. Conclusion Aside from MNX1, other genes or regulatory regions may contribute to CS and we discuss several cytogenetic studies and whole-exome sequencing data that have implicated further loci/genes in its etiology.

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Currarinos syndrom ved Rikshospitalet 1961 – 2012

Cited by 10 publications

References 28 publications

Phenotype analysis impacts testing strategy in patients with Currarino syndrome

Phenotype analysis impacts testing strategy in patients with Currarino syndrome

Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study

Currarino syndrome: a comprehensive genetic review of a rare congenital disorder

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