title: [Analysis of NFU1 gene mutation in a Chinese family affected with multiple mitochondrial dysfunction syndrome].
abstract: OBJECTIVE
  To detect potential mutation of NFU1 gene in a Chinese family affected with multiple mitochondrial dysfunction syndrome (MMDS).
  
  
  METHODS
  For a mother with two children died of MMDS, next-generation sequencing (NGS) was used to scan her exome. Suspected mutation was validated with PCR and Sanger sequencing. Potential mutation of exons 1 to 8 and flanking regions of the NFU1 gene was also detected in the father by PCR and Sanger sequencing.
  
  
  RESULTS
  A novel deletional mutation c.90delC(p.Tyr30Ter) of the NFU1 gene was found in the mother, while the father was found to have carried a heterozygous c.572A>T (p.Asp191Val) mutation. The same mutations were not found among 100 healthy controls.
  
  
  CONCLUSIONS
  The novel mutations c.90delC (p.Tyr30Ter) and c.572A>T (p.Asp191Val) of the NFU1 gene probably underlie the pathogenesis of MMDS in our case. Combined NGS and Sanger sequencing may provide efficient and accurate diagnosis for this disease.
authors.affiliation: Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
authors.forename: Ying
authors.initials: Y
authors.lastname: Bai
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Kong
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002681:China; D059472:Exome / Q000235:genetics; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006579:Heterozygote; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D007223:Infant; D008297:Male; D028361:Mitochondrial Diseases / Q000208:ethnology / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid
chemical_list: D002352:Carrier Proteins; C426067:NFU1 protein, human