Molecular defects identified by whole exome sequencing in a child with Fanconi anemia

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• 作者：Zhaojing Zheng ; Juan Geng ; Ru-en Yao ; Caihua Li ; Daming Ying ; Yongnian Shen ; Lei Ying ; Yongguo Yu ; Qihua Fu
• 关键词：FA ; Fanconi anemia ; BRCA2/FANCD1 ; breast cancer 2/Fanconi anemia group D1 ; PALB2/FANCN ; partner and localizer of BRCA2/Fanconi anemia group N ; ICLs ; interstrand cross-linking agents ; MMC ; mitomycin C ; DEB ; diepoxybutane ; PGD ; pre-implantation genetic diag
• 刊名：Gene
• 出版年：2013
• 出版时间：10 November, 2013
• 年：2013
• 卷：530
• 期：2
• 页码：295-300
• 全文大小：1503 K

文摘

Fanconi anemia is a rare genetic disease characterized by bone marrow failure, multiple congenital malformations, and an increased susceptibility to malignancy. At least 15 genes have been identified that are involved in the pathogenesis of Fanconi anemia. However, it is still a challenge to assign the complementation group and to characterize the molecular defects in patients with Fanconi anemia. In the current study, whole exome sequencing was used to identify the affected gene(s) in a boy with Fanconi anemia. A recurring, non-synonymous mutation was found (c.3971C>T, p.P1324L) as well as a novel frameshift mutation (c.989_995del, p.H330LfsX2) in FANCA gene. Our results indicate that whole exome sequencing may be useful in clinical settings for rapid identification of disease-causing mutations in rare genetic disorders such as Fanconi anemia.