title: [Mutation analysis and prenatal diagnosis for a case of spinal muscular atrophy with respiratory distress type 1].
abstract: OBJECTIVE
  To detect potential mutation of immunoglobulin μ -binding protein 2 (IGHMBP2) gene in a two-year-old patient with spinal muscular atrophy with respiratory distress type 1 (SMARD1).
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood sample from the patient and her parents, as well as cord blood sample from the fetus. Potential mutations of the coding region of the IGHMBP2 gene was detected with PCR and Sanger sequencing.
  
  
  RESULTS
  A heterozygous missense mutation c.1060G>A and a frameshift mutation c.2356delG was detected in the patient. The mutations were respectively inherited from her father and mother. Neither mutation was found in DNA derived from the cord blood sample.
  
  
  CONCLUSIONS
  The missense mutation c.1060G>A and frameshift mutation c.2356delG were probably causative for the disease. Analysis of the IGHMBP2 gene has provided an important clue for the etiology and prenatal diagnosis of SMARD1.
authors.affiliation: Department of Clinical Laboratory, Fujian Provincial Hospital, Provincial Clinical Medical College, Fujian Medical University, Fuzhou, Fujian 350001, China. wyaslyy@126.com.
authors.forename: Biao
authors.initials: B
authors.lastname: Zhang
authors.forename: Dandan
authors.initials: D
authors.lastname: Guo
authors.forename: Jiaying
authors.initials: J
authors.lastname: Zheng
authors.forename: Xinxin
authors.initials: X
authors.lastname: Lu
authors.forename: Xiumin
authors.initials: X
authors.lastname: Zhang
authors.forename: Yan'an
authors.initials: Y
authors.lastname: Wu
mesh_terms: D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors