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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 242 - 248 (7page)
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초록· 키워드
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Background: The major genetic cause of Currarino syndrome (CS), a congenital malformation syndrome typically characterized by sacral agenesis, anorectal malformation, and presence of a pre-sacral mass, is known to be pathogenic variants in motor neuron and pancreas homeobox 1 (MNX1), which exist in almost all familial cases and 30% of sporadic cases. Less commonly, a large deletion or a complex rearrangement involving the 7q36 region is associated with CS. We investigated the spectrum of MNX1 pathogenic variants and associated clinical features in the Korean patients with CS. Methods: We enrolled 25 patients with CS, including 24 sporadic cases and one familial case. Direct sequencing of MNX1 and multiplex ligation-dependent probe amplification were performed. We also analyzed clinical phenotypes and evaluated genotype-phenotype correlations. Results: We identified six novel variants amongst a total of six null variants, one missense variant, and one large deletion. The null variants included four frameshift variants (p.Gly98Alafs* 124, p.Gly145Alafs*77, p.Gly151Leufs*67, and p.Ala216Profs*5) and two nonsense variants (p.Tyr186* and p.Gln212*). The missense variant, p.Lys295Gln, was located in the highly-conserved homeobox domain and was predicted to be deleterious. A large deletion involving the 7q36 region was detected in one patient. Pathogenic variants in MNX1 were detected in 28% of all CS cases and 25% of sporadic cases. The clinical phenotype was variable in patients with and without pathogenic variants; no significant genotype-phenotype correlation was observed. Conclusions: This study revealed the spectrum and phenotypic variability of MNX1 pathogenic variants in the Korean population.
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참고문헌 (38)
참고문헌 신청
Currarino G / 1981 / Triad of anorectal, sacral, and presacral anomalies / AJR Am J Roentgenol 137:395~398
Horn D / 2004 / Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3 / Am J Med Genet A 128A:85~92
Pavone P / 2010 / Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q / Eur J Pediatr 169:475~481
Cuturilo G / 2016 / Phenotype analysis impacts testing strategy in patients with Currarino syndrome / Clin Genet 89:109~114
Hagan DM / 2000 / Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene / Am J Hum Genet 66:1504~1515
Horn D / 2004 / Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3 / Am J Med Genet A 128A:85~92
Pavone P / 2010 / Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q / Eur J Pediatr 169:475~481
Cuturilo G / 2016 / Phenotype analysis impacts testing strategy in patients with Currarino syndrome / Clin Genet 89:109~114
Hagan DM / 2000 / Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene / Am J Hum Genet 66:1504~1515
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