Genetic and structural changes leading to symptomatic Currarino syndrome – case presentation with re-analyzation of 102 cases of MNX1 genetic change

機関リポジトリ 機関リポジトリ (HANDLE) オープンアクセス

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公開日
2025-12-12
資源種別
journal article
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  • © 2025 The Author(s).
公開者
Elsevier BV

説明

Currarino syndrome is a rare congenital disorder characterized by a triad of presacral mass, sacral agenesis, and anorectal malformation. We report a case of Currarino syndrome with heterozygous in-frame deletion in homeobox of MNX1 gene. Currarino syndrome is an autosomal-dominant inheritance, and many cases of MNX1 mutations have been reported, but there are no reports of symptomatic with heterozygous in-frame deletions in sporadic cases. We downloaded the MNX1 data from open database ClinVar-NCBI. After adding seven literature reports not included in the database with present case, we re-analyzed the mutation type, location and symptoms. Among 81 cases with gene mutations upstream of homeobox, structural changes in homeobox were observed in 39 of 41 symptomatic cases (95.1%), while in only 1 of 40 asymptomatic cases (2.5%). This finding indicates that structural changes in the homeobox of the MNX1 gene are significantly involved in whether Currarino syndrome becomes symptomatic.

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