Rötig A, Bourgeron T, Chretien D, Rustin P, Munnich A
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants Malades, Paris, France.
Hum Mol Genet. 1995 Aug;4(8):1327-30. doi: 10.1093/hmg/4.8.1327.
The Pearson marrow-pancreas syndrome (MIM 557000) is a disorder involving the hematopoietic system and the exocrine pancreas in early infancy. We have previously shown that this disease results from a defect of oxidative phosphorylation associated with deletions of the mitochondrial DNA. We present here a series of 21 cases (including 15 unreported patients) with Pearson syndrome and describe mitochondrial DNA deletions as consistent features in this syndrome. Nine patients presented the same 4.9 kb deletion, while other patients presented different deletions ranging in size from 9 to 14 kb between tRNACyst and the D-loop. Direct repeats (4-13 bp) were consistently present in the wild-type mtDNA at the boundaries of the deletions. Deletion-dimers, deletion-multimers or duplications were observed in association with deletions. Duplications were identified both in patients who died of their Pearson syndrome and in the ones who survived and developed Kearns-Sayre syndrome, suggesting that no correlation could be made between the clinical severity and the type, size or location of the rearrangements.
皮尔逊骨髓-胰腺综合征（MIM 557000）是一种在婴儿早期累及造血系统和外分泌胰腺的疾病。我们之前已经表明，这种疾病是由与线粒体DNA缺失相关的氧化磷酸化缺陷引起的。我们在此呈现一系列21例皮尔逊综合征患者（包括15例未报道的患者），并描述线粒体DNA缺失是该综合征的一致特征。9例患者出现相同的4.9 kb缺失，而其他患者出现不同的缺失，大小在tRNACyst和D环之间为9至14 kb。直接重复序列（4 - 13 bp）在缺失边界的野生型线粒体DNA中始终存在。观察到缺失二聚体、缺失多聚体或重复与缺失相关。在死于皮尔逊综合征的患者以及存活并发展为卡恩斯-塞尔综合征的患者中均发现了重复，这表明临床严重程度与重排的类型、大小或位置之间没有相关性。
