Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype

Markljung, Ellen; Adamović, Tatjana; Cao, Jia; Naji, Hussein; Kaiser, Sylvie; Wester, Tomas; Nordenskjöld, Agneta

doi:10.1016/j.gene.2012.06.096

Cited by 14 publications

(15 citation statements)

References 27 publications

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“…This patient had a terminal deletion of chromosome 7q, which includes the MNX1 gene among others and which is known from the literature (32,33). A lower prevalence of mutations in sporadic cases of Currarino syndrome is consistent with previous observations, which have shown that mutations are present in the majority of familial cases, but in only 30 % of sporadic cases (10). One possible explanation could be that some of the sporadic cases may be caused by a somatic mutation.…”

Section: Geneticssupporting

confidence: 88%

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Currarinos syndrom ved Rikshospitalet 1961 – 2012

Monclair¹,

Lundar²,

Smevik³

et al. 2013

Tidsskriftet

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Section: Geneticssupporting

confidence: 88%

“…It consists of three exons and encodes a transcription factor. More than 70 disease-associated mutations have been identified so far (10,11). No genotype-phenotype correlation has been identified (2,3,12).…”

mentioning

confidence: 99%

Currarinos syndrom ved Rikshospitalet 1961 – 2012

Monclair¹,

Lundar²,

Smevik³

et al. 2013

Tidsskriftet

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“…24 MNX1 encodes a homeobox nuclear transcription factor involved in caudal development and is required for pancreatic development and spinal cord motor neuron differentiation. 20 More than 50% of sporadic cases of Currarino syndrome have also demonstrated mutations in the MNX1 gene; however, more specific genotype-phenotype correlations have been complicated by incomplete penetrance and a wide variation in clinical presentation even among familial cases. 5 Overall, 43 different disease-causing mutations in the MNX1 gene have been identified in patients with Currarino syndrome.…”

Section: Geneticsmentioning

confidence: 99%

Currarino syndrome and spinal dysraphism

Kole

Fridley

Jea

et al. 2014

PED

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Currarino syndrome is a rare constellation of congenital anomalies characterized by the triad of sacral dysgenesis, presacral mass, and anorectal malformation. It is frequently associated with other congenital anomalies, often including occult spinal dysraphism. Mutations in the MNX1 gene are identified in the majority of cases. The authors report a rare case of Currarino syndrome in an infant with tethered cord syndrome and a dorsal lipomyelomeningocele continuous with a presacral intradural spinal lipoma, in addition to an imperforate anus and a scimitar sacrum. They review the literature to highlight patterns of occult spinal dysraphism in patients with Currarino syndrome and their relationship to tethered cord syndrome. Approximately 60% of the patients with Currarino syndrome reported in the literature have an occult spinal dysraphism. Published studies suggest that the risk of tethered cord syndrome may be higher among patients with a lipoma and lower among those with a teratoma or anterior meningocele.

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“…MNX1 loss-offunction mutations including point mutations, chromosomal rearrangements or whole-gene deletions are associated with Currarino syndrome (OMIM 176450) [Crétolle et al, 2008;Markljung et al, 2012;Holm et al, 2013]. This autosomal dominant disorder was initially a b Fig.…”

Section: Mnx1mentioning

confidence: 99%

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene

Coutton

Poreau²,

Devillard

et al. 2013

Mol Syndromol

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Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon and can be caused by environmental and genetic factors. HPE is usually described as a continuum of brain malformations from the most severe alobar HPE to the middle interhemispheric fusion variant or syntelencephaly. A microform of HPE is limited to craniofacial features such as congenital nasal pyriform aperture stenosis and single central maxillary incisor, without brain malformation. Among the heterogeneous causes of HPE, point mutations and deletions in the SHH gene at 7q36 have been identified as well as extremely rare chromosomal rearrangements in the long-range enhancers of this gene. Here, we report a boy with an HPE microform associated with a Currarino syndrome. Array CGH detected a de novo 2.7-Mb deletion in the 7q36.3 region including the MNX1 gene, usually responsible for the Currarino triad but excluding SHH, which is just outside the deletion. This new case provides further evidence of the importance of the SHH long-range enhancers in the HPE spectrum.

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Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype

Cited by 14 publications

References 27 publications

Currarinos syndrom ved Rikshospitalet 1961 – 2012

Currarinos syndrom ved Rikshospitalet 1961 – 2012

Currarino syndrome and spinal dysraphism

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene

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