title: Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.
abstract: 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.
authors: Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PR China.
authors: Zhaojing
authors: Z
authors: Zheng
authors: Juan
authors: J
authors: Geng
authors: Ru-En
authors: RE
authors: Yao
authors: Caihua
authors: C
authors: Li
authors: Daming
authors: D
authors: Ying
authors: Yongnian
authors: Y
authors: Shen
authors: Lei
authors: L
authors: Ying
authors: Yongguo
authors: Y
authors: Yu
authors: Qihua
authors: Q
authors: Fu
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D059472:Exome; D005199:Fanconi Anemia / Q000235:genetics* / Q000473:pathology; D052217:Fanconi Anemia Complementation Group A Protein / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: C498471:FANCA protein, human; D052217:Fanconi Anemia Complementation Group A Protein
keywords: BFU-E; BRCA2/FANCD1; CFU-GM; CsA; DEB; ESP; Exome Sequencing Project; FA; FANCA; Fanconi anemia; Fanconi anemia group A; HGMD; ICLs; IGV; Integrative Genomics Viewer; MLPA; MMC; Molecular diagnostics; Multiplex Ligation-Dependent Probe Amplification; NGS; PALB2/FANCN; PGD; SCGE; SNV; WES; Whole exome sequencing; breast cancer 2/Fanconi anemia group D1; burst forming unit-erythroid; colony forming unit-granulocyte, monocyte; cyclosporin A; diepoxybutane; interstrand cross-linking agents; mitomycin C; next generation sequencing; partner and localizer of BRCA2/Fanconi anemia group N; pre-implantation genetic diagnosis; single cell gel electrophoresis; single nucleotide variations; the Human Gene Mutation Database; whole exome sequencing