Le syndrome de Currarino

Belkacem, S.; Chellaoui, M; Dafiri, R.

doi:10.1016/j.frad.2010.02.015

Cited by 4 publications

(2 citation statements)

References 18 publications

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“…The partial resorption of this "fistula" on the dorsal side would cause a meningocele and, on the ventral side, an enteric cyst. A teratoma would be formed if the enteric and neural elements remained linked by elements of the mesoderm having migrated into the presacral space during the development of the somites [Belkacem et al, 2010]. Here, we report two siblings with sacral agenesis combined with microcephaly, facial dysmorphism, overgrowth, and mental retardation with a terminal 7q36.2 deletion due to a balanced translocation in the mother.…”

Section: Introductionmentioning

confidence: 91%

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Currarino Syndrome in Two Moroccan Siblings with Inherited 7q36 Deletion due to Maternal t(7;21)(q36;p11)mat: A Case Report

El Amrani,

Natiq,

Sbiti

et al. 2023

Mol Syndromol

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Introduction: Currarino syndrome is a rare syndrome with multiple congenital anomalies including sacral agenesis, anorectal malformation, and presence of a presacral mass. Currarino syndrome is considered to be an autosomal dominant inherited disorder, with low penetrance and variable expressivity, but sporadic cases have also been reported. Mutations in MNX1 gene, mapped to 7q36, are the main causes of this syndrome. To the best of our knowledge, less than 400 cases of this syndrome have been mentioned in the literature. Currarino syndrome is often seen in children and considered to be rare in adults; it is mostly found as incidental finding and suspected to be underdiagnosed. Case Presentation: Recognizing the rarity of this syndrome, we present here two siblings with incomplete form of Currarino syndrome combined with microcephaly and intellectual disability. Banding and molecular cytogenetics were used to characterize the origin of this disorder. Banding cytogenetics together with molecular cytogenetics revealed an unbalanced translocation t(7;21)(q36.2;p11.3)mat, leading to a deletion of the 7q36 region in both affected children. Conclusion: This report highlights the importance of cytogenetics in diagnosis of rare genetic syndromes, with impact on genetic counseling of patients and their families. To the best of our knowledge, this is the first Moroccan Currarino syndrome case due to an unbalanced translocation leading to a der(7)t(7;21)(q36.2;p11.3). Also, this is the first Currarino syndrome case associated with a deletion in 7q36 to be reported in Morocco.

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Section: Introductionmentioning

confidence: 91%

“…The gene that is involved in this syndrome is MNX1 gene; it has 3 exons, encoding a protein of 403 amino acids, which is a key protein transcription factor. Further research has mentioned its role in normal regulation of the different stages of the early embryonic development of the caudal part [Belkacem et al, 2010].…”

Section: Introductionmentioning

confidence: 99%