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Genetic Study of Fanconi Anemia in Infancy Revealed FANCI Mutations and Defective ALDH2 Variant: A Case Report.
Journal of Pediatric Hematology/Oncology ( IF 1.2 ) Pub Date : 2021-07-23 , DOI: 10.1097/mph.0000000000002254
Takayo Urata 1 , Toshihiko Imamura 1 , Shinya Osone 1 , Hideki Muramatsu 2 , Yoshiyuki Takahashi 2 , Hajime Hosoi 1
Affiliation  

Fanconi anemia (FA) is a rare genetic disorder that manifests as congenital abnormalities and bone marrow failure (BMF). Most patients with FA present with BMF within the first decade of life; however, neonate and early infancy BMF is rare. Recent studies have shown that a defective aldehyde dehydrogenase 2 (ALDH2) variant accelerates BMF development in patients with FA. Herein, we described an infant case of FA with compound heterozygous FANCI mutation and the defective ALDH2 variant. Our case developed BMF early probably because of ALDH2 deficiency, while the mild malformation might be because of the locus of FANCI mutation.

中文翻译:

婴儿期范可尼贫血的遗传学研究揭示了 FANCI 突变和缺陷性 ALDH2 变异:病例报告。

范可尼贫血(FA)是一种罕见的遗传性疾病,表现为先天性异常和骨髓衰竭(BMF)。大多数 FA 患者在生命的最初十年内出现 BMF;然而,新生儿和婴儿早期的 BMF 很少见。最近的研究表明,有缺陷的乙醛脱氢酶 2 (ALDH2) 变异会加速 FA 患者 BMF 的发展。在此,我们描述了一例具有复合杂合 FANCI 突变和缺陷 ALDH2 变异的 FA 婴儿病例。我们的病例早期出现BMF可能是因为ALDH2缺乏,而轻度畸形可能是因为FANCI突变位点。
更新日期:2021-07-23
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