title: [Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II].
abstract: OBJECTIVE
  To identify potential mutations in a Chinese family with Usher syndrome type II.
  
  
  METHODS
  Genomic DNA was obtained from two affected and four unaffected members of the family and subjected to amplification of the entire coding sequence and splicing sites of USH2A gene. Mutation detection was conducted by direct sequencing of the PCR products. A total of 100 normal unrelated individuals were used as controls.
  
  
  RESULTS
  The patients were identified to be a compound heterozygote for two mutations: c.8272G>T (p.E2758X) in exon 42 from his mother and c.12376-12378ACT>TAA(p.T4126X) in exon 63 of the USH2A gene from his father. Both mutations were not found in either of the two unaffected family members or 100 unrelated controls, and had completely co-segregated with the disease phenotype in the family. Neither mutation has been reported in the HGMD database.
  
  
  CONCLUSIONS
  The novel compound heterozygous mutations c.8272G>T and c.12376-12378ACT>TAA within the USH2A gene may be responsible for the disease. This result may provide new clues for molecular diagnosis of this disease.
authors.affiliation: Department of Medical Genetics, the First Affiliated Hospital, Hunan University of Medicine, Huaihua, Hunan 418000, P.R.China. bioquanqingli@163.com.
authors.forename: Haiou
authors.initials: H
authors.lastname: Jiang
authors.forename: Chuanqin
authors.initials: C
authors.lastname: Ge
authors.forename: Yiwang
authors.initials: Y
authors.lastname: Wang
authors.forename: Genyun
authors.initials: G
authors.lastname: Tang
authors.forename: Qingli
authors.initials: Q
authors.lastname: Quan
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006309:Hearing; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D052245:Usher Syndromes / Q000235:genetics* / Q000503:physiopathology
chemical_list: D016326:Extracellular Matrix Proteins; C112735:USH2A protein, human