一名患有聚合酶E1缺乏症（POLE1）的患者：临床特征以及与DNA断裂/不稳定综合征的重叠情况。
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
作者信息
Thiffault Isabelle, Saunders Carol, Jenkins Janda, Raje Nikita, Canty Kristi, Sharma Mukta, Grote Lauren, Welsh Holly I, Farrow Emily, Twist Greyson, Miller Neil, Zwick David, Zellmer Lee, Kingsmore Stephen F, Safina Nicole P
机构信息
Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, 64108, USA.
Department of Pathology and Laboratory Medicine, Childrens Mercy Hospitals, Kansas City, MO, 64108, USA.
出版信息
BMC Med Genet. 2015 May 7;16:31. doi: 10.1186/s12881-015-0177-y.
BACKGROUND
Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy.
CASE PRESENTATION
We performed exome sequencing on a girl with a suspected chromosome instability syndrome that manifested as growth retardation, microcephaly, developmental delay, dysmorphic features, poikiloderma, immune deficiency with pancytopenia, and myelodysplasia. She was homozygous for a previously reported splice variant, c.4444 + 3A > G in the POLE1 gene, which encodes the catalytic subunit of DNA polymerase E.
CONCLUSION
This is the second family with POLE1-deficency, with the affected individual demonstrating a more severe phenotype than previously described.
背景
染色体不稳定综合征是一组与染色体不稳定和断裂相关的遗传性疾病，常导致免疫缺陷、生长发育迟缓及恶性肿瘤风险增加。
病例报告
我们对一名疑似染色体不稳定综合征的女孩进行了外显子组测序，该女孩表现为生长发育迟缓、小头畸形、发育延迟、畸形特征、皮肤异色症、伴有全血细胞减少的免疫缺陷及骨髓发育异常。她在POLE1基因中一个先前报道的剪接变体c.4444＋3A＞G处为纯合子，该基因编码DNA聚合酶E的催化亚基。
结论
这是第二个POLE1缺陷家族，受累个体表现出比先前描述更严重的表型。
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