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[Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II].

AbstractOBJECTIVE:
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.
CONCLUSION:
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.
AuthorsHaiou Jiang, Chuanqin Ge, Yiwang Wang, Genyun Tang, Qingli Quan
JournalZhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 32 Issue 3 Pg. 327-30 (Jun 2015) ISSN: 1003-9406 [Print] China
PMID26037342 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Extracellular Matrix Proteins
  • USH2A protein, human
Topics
  • Adult
  • Amino Acid Sequence
  • Asian People (genetics)
  • Base Sequence
  • Child
  • China
  • DNA Mutational Analysis
  • Extracellular Matrix Proteins (genetics)
  • Female
  • Hearing
  • Heterozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation, Missense
  • Pedigree
  • Usher Syndromes (genetics, physiopathology)

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