Hereditary Hearing Impairment with Cutaneous Abnormalities
نویسندگان
چکیده
منابع مشابه
Establishment of Preimplantation Genetic Diagnostic Technique for Hereditary Hearing Impairment
Objective: The aim of this study is to establish a method by single nucleotide polymorphism detection from a single cell using the whole genomic amplification and restriction fragment length polymorphism-PCR (RFLPPCR). Methods: Genomic DNA was first prepared and wholly amplified from 80 biopsied blastomeres using the Sure Plex DNA Amplification System. Then, PCR was carried out on a single blas...
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OBJECTIVES To clinically characterize a family with nonsyndromic sensorineural hearing loss linked to the DFNA25 gene and to assess whether mitochondrial mutations influence the penetrance of the phenotype. DESIGN Longitudinal clinical and basic science molecular genetic study. SETTING Academic medical center and molecular genetic research laboratory. PARTICIPANTS Members of a family with...
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120 cases of Iranian soldiers complaining of hearing loss, were studied over a period of three years at the Ghaem Medical Center in Mashad,Iran. There was adequate information in III cases that their engagement in different types of explosions had caused their hearing impairment. The following aspects were evaluated: 1- Categorization of their hearing impairment. 2- The otoscopic findings...
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It is estimated that hereditary hearing loss accounts for 60% of deafness in the developed countries. About 30% of hereditary hearing impairment is syndromic which involves other presenting abnormalities along with deafness. There are more than 400 syndromes which include various degrees of hearing impairment with different phenotypes. (Barlow Stewart et al., 2007; Berrettini et al., 2008). Abn...
متن کاملDFNA5: hearing impairment exon instead of hearing impairment gene?
BACKGROUND Three mutations in the DFNA5 gene have been described in three families with autosomal dominant non-syndromic hearing impairment. Although these mutations are different at the genomic DNA level, they all lead to skipping of exon 8 at the mRNA level. We hypothesise that hearing impairment associated with DFNA5 is caused by a highly unusual mechanism, in which skipping of one specific ...
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ژورنال
عنوان ژورنال: Genes
سال: 2020
ISSN: 2073-4425
DOI: 10.3390/genes12010043