title: [Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing].
abstract: OBJECTIVE
  To provide prenatal diagnosis for a pregnant woman who had given birth to a child with Fanconi anemia with combined next-generation sequencing (NGS) and Sanger sequencing.
  
  
  METHODS
  For the affected child, potential mutations of the FANCA gene were analyzed with NGS. Suspected mutation was verified with Sanger sequencing. For prenatal diagnosis, genomic DNA was extracted from cultured fetal amniotic fluid cells and subjected to analysis of the same mutations.
  
  
  RESULTS
  A low-frequency frameshifting mutation c.989_995del7 (p.H330LfsX2, inherited from his father) and a truncating mutation c.3971C>T (p.P1324L, inherited from his mother) have been identified in the affected child and considered to be pathogenic. The two mutations were subsequently verified by Sanger sequencing. Upon prenatal diagnosis, the fetus was found to carry two mutations.
  
  
  CONCLUSIONS
  The combined next-generation sequencing and Sanger sequencing can reduce the time for diagnosis and identify subtypes of Fanconi anemia and the mutational sites, which has enabled reliable prenatal diagnosis of this disease.
authors: Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai Institute of Pediatric Research, Shanghai 200092, P.R. China. gu_xuefan@163.com.
authors: Zhuwen
authors: Z
authors: Gong
authors: Yongguo
authors: Y
authors: Yu
authors: Qigang
authors: Q
authors: Zhang
authors: Xuefan
authors: X
authors: Gu
mesh_terms: D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005199:Fanconi Anemia / Q000175:diagnosis / Q000235:genetics*; D052217:Fanconi Anemia Complementation Group A Protein / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: C498471:FANCA protein, human; D052217:Fanconi Anemia Complementation Group A Protein