ABSTRACT
<p><b>OBJECTIVE</b>To perform genetic analysis for 7 patients with Waardenburg syndrome.</p><p><b>METHODS</b>Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software.</p><p><b>RESULTS</b>Seven mutations, including c.649-651delAGA (p.R217del), c.72delG (p.G24fs), c.185T>C (p.M62T), c.118C>T (p.Q40X), c.422T>C (p.L141P), c.640C>T (p.R214X) and c.28G>T(p.G43V), were detected in the patients. Among these, four mutations of the PAX3 gene (c.72delG, c.185T>C, c.118C>T and c.128G>T) and one SOX10 gene mutation (c.422T>C) were not reported previously. Three non-synonymous SNPs (c.185T>C, c.128G>T and c.422T>C) were predicted as harmful.</p><p><b>CONCLUSION</b>Genetic mutations have been detected in all patients with Waardenburg syndrome.</p>
Subject(s)
Adolescent , Child , Female , Humans , Male , Microphthalmia-Associated Transcription Factor , Genetics , Mutation , PAX3 Transcription Factor , Paired Box Transcription Factors , Genetics , Polymorphism, Single Nucleotide , SOXE Transcription Factors , Genetics , Waardenburg Syndrome , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To identify novel common mutations among patients with non-syndromic hearing loss (NSHL).</p><p><b>METHODS</b>High-throughput gene capture technology was used to analyze 18 patients with NSHL in whom common mutations of deafness genes including GJB2, SLC26A4, GJB3, and mtDNA were excluded. Suspected mutation was verified with Sanger sequencing.</p><p><b>RESULTS</b>Next generation sequencing has identified 62 mutations in 29 genes associated with hearing loss, which included 54 missense mutations, 4 splicing mutations, 3 deletional mutations, and 1 nonsense mutation. Mutations occurring more than twice in the 18 patients were verified by Sanger sequencing. This has confirmed 15 mutations in 8 genes, including 3 missense mutations (p.C2184G, p.L2825P, p.H1888Y) which have not been reported previously. Meanwhile, p.L445W, p.D866N, and IVS919-2A>G were common causative mutations.</p><p><b>CONCLUSION</b>A number of common causative mutations, e.g., p.L445W, p.D866N, IVS919-2A>G, have been identified by high-throughput capture technology, which may facilitate the research and genetic diagnosis for hearing loss.</p>
Subject(s)
Female , Humans , Male , DNA, Mitochondrial , Genetics , Deafness , Genetics , Hearing Loss , Genetics , High-Throughput Nucleotide Sequencing , Methods , Mutation , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To explore the common causative genes and mutation sites for hereditary non-syndromic deafness in Shanxi.</p><p><b>METHODS</b>Peripheral blood samples were collected from regional schools for children with deafness. The samples were analyzed by matrix-assisted laser desorption ionization of flight mass spectrometry, and the results were verified by DNA sequencing.</p><p><b>RESULTS</b>For all samples, the 20 mutational sites of the 4 common causative genes were tested. As revealed, c.235delC of GJB2 gene has the highest mutational rate (13.67%). c.IVS7-2A>G of SLC26A (PDS) gene has a mutation rate of 17.67%, and c.1555A>G of mitochondrial 12S rRNA has a mutation rate of 2.00%. No mutations have been found with GJB3 gene. Sequencing analysis has suggested that the above results have a consistency rate of 99%.</p><p><b>CONCLUSION</b>Analysis of mutations of the 4 common deafness-related genes can facilitate early diagnosis and treatment for the disease. Matrix-assisted laser desorption ionization time of flight mass spectrometry is a reliable method for such a task.</p>
Subject(s)
Adolescent , Child , Female , Humans , Male , Young Adult , Asian People , Genetics , Base Sequence , China , Connexin 26 , Connexins , Genetics , DNA Mutational Analysis , Deafness , Genetics , Molecular Sequence Data , Mutation , RNA, Ribosomal , GeneticsABSTRACT
OBJECTIVE@#To investigate the surgical method of plerosising intra-orbital wall blow-out fracture through ethmoid sinuses under trans-nasal endoscopy with the graft of nasal septal cartilage.@*METHOD@#Eighteen patients who encounter the intra-orbital wall blow-out fracture were plerosised under trans-nasal endoscopy through ethmoid sinuses. As a part of the surgical method, the nasal septal cartilage was taken as the graft. We analyzed the curative effect of the method.@*RESULT@#The follow-up was from half a year to one year, all of the 18 patients met the cure standards without the graft prolapsus.@*CONCLUSION@#It is a feasible surgical method to plerosis intra-orbital wall blow-out fracture under the endoscopic transnasal with the graft of nasal septal cartilage through ethmoid sinuses, which is direct-viewing,micro- trauma, well-histocompatibility and so on.