title: Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.
abstract: OBJECTIVE
  To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2).
  
  
  METHODS
  The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect, exons of 103 known RDs -associated genes including 12 Usher syndrome (USH) genes of the proband were captured and sequencing analysis was performed to exclude known genetic defects and find potential pathogenic mutations. Subsequently, candidate mutations were validated in his pedigree and 100 normal controls using polymerase chain reaction (PCR) and Sanger sequencing.
  
  
  RESULTS
  The patient in the family occurred hearing loss (HL) and retinitis pigmentosa (RP) without vestibular dysfunction, which were consistent with standards of classification for USH2. He carried the compound heterozygous mutations, c.721 C>T and c.1969 C>T, in the MYO7A gene and the unaffected members carried only one of the two mutations. The mutations were not present in the 100 normal controls.
  
  
  CONCLUSIONS
  We suggested that the compound heterozygous mutations of the MYO7A could lead to USH2, which had revealed distinguished clinical phenotypes associated with MYO7A and expanded the spectrum of clinical phenotypes of the MYO7A mutations.
authors: Department of Ophthalmology, General Hospital of Chinese PLA, Beijing 100853, China ; School of Medicine, Nan Kai University, Tianjin 300071, China ; Key Lab of Visual Damage, and Regeneration & Restoration of Chongqing, Chongqing 400038, China.
authors: Wei
authors: W
authors: Zhai
authors: Department of Ophthalmology, General Hospital of Chinese PLA, Beijing 100853, China.
authors: Xin
authors: X
authors: Jin
authors: Department of Ophthalmology, General Hospital of Chinese PLA, Beijing 100853, China.
authors: Yan
authors: Y
authors: Gong
authors: Key Lab of Visual Damage, and Regeneration & Restoration of Chongqing, Chongqing 400038, China ; Department of Ophthalmology, No.181 Hospital of Guilin, Guilin 541000, Guangxi Zhuang Autonomous Region, China.
authors: Ling-Hui
authors: LH
authors: Qu
authors: Key Lab of Visual Damage, and Regeneration & Restoration of Chongqing, Chongqing 400038, China.
authors: Chen
authors: C
authors: Zhao
authors: Department of Ophthalmology, General Hospital of Chinese PLA, Beijing 100853, China.
authors: Zhao-Hui
authors: ZH
authors: Li
keywords: MYO7A; Usher syndrome; mutation; next-generation sequencing