Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2–q13.32

@article{Tariq2005LocalizationOA,
  title={Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2–q13.32},
  author={Aamira Tariq and Regie Lyn P. Santos and Mohammad Nasim Khan and Kwanghyuk Lee and Muhammad Jawad Hassan and Wasim Ahmad and Suzanne M. Leal},
  journal={Journal of Molecular Medicine},
  year={2005},
  volume={84},
  pages={484-490}
}
Autosomal recessive nonsyndromic hearing impairment (ARNSHI) is the most frequent form of prelingual hereditary hearing loss in humans. Between 75 and 80% of all nonsyndromic deafness is inherited in an autosomal recessive pattern. Using linkage analysis, we have mapped a novel gene responsible for this form of nonsyndromic hearing impairment, DFNB65, in a consanguineous family from the Azad Jammu and Kashmir regions, which border Pakistan and India. A maximum multipoint LOD score of 3.3 was… Expand
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing
TLDR
This study is the first to implicate OSBPL2 mutations in autosomal dominant nonsyndromic hearing loss and modeling and structure-based analysis support the theory that this gene deletion is functionally deleterious. Expand
Non-syndromic Autosomal Recessive Deafness in Pakistani Population: Epidemiology and Genetics
TLDR
Pakistani population provides a valuable genetic resource for identifying various loci and genes involved in deafness phenotypes and a number of genes causing pre-lingual, severe to profound or profound hearing impairment have been identified using single consanguineous family. Expand
Non-syndromic hearing loss gene identification: A brief history and glimpse into the future.
TLDR
This review highlights the classical and cutting-edge strategies for non-syndromic hearing loss gene identification that have been used throughout the twenty year history with a special emphasis on how the innovative breakthroughs in next generation sequencing technology have forever changed candidate gene approaches. Expand
Finding New Genes for Non-Syndromic Hearing Loss through an In Silico Prioritization Study
TLDR
A gene-scoring system, integrating Gene Ontology, NCBI Gene and Map Viewer databases, prioritizes the candidate genes according to their probability to cause Non-Syndromic hereditary Hearing Loss, and finds that half of them are known to be expressed in human inner ear or cochlea and are mainly involved in remodeling and organization of actin formation and maintenance of the cilia and the endocochlear potential. Expand
Genetic Hearing Loss and Gene Therapy
TLDR
This review summarizes and discusses recent advances in elucidating the genomics of genetic hearing loss and technologies aimed at developing a gene therapy that may become a treatment option for in the near future. Expand

References

SHOWING 1-10 OF 22 REFERENCES
Comprehensive human genetic maps: individual and sex-specific variation in recombination.
Comprehensive human genetic maps were constructed on the basis of nearly 1 million genotypes from eight CEPH families; they incorporated >8,000 short tandem-repeat polymorphisms (STRPs), primarilyExpand
A combined linkage-physical map of the human genome.
TLDR
This map is uniquely suitable as a comprehensive resource for determining genetic map information (order and distances) for any large set of polymorphic markers. Expand
Epidemiology of hearing loss and aetiological diagnosis of hearing impairment in childhood.
  • A. Parving
  • Medicine
  • International journal of pediatric otorhinolaryngology
  • 1983
TLDR
A routine examination programme is proposed directed towards a systematic evaluation of the symptom of hearing loss and its aetiology with due caution to the individual child, based on a combination of audiological/non-audiological examinations. Expand
Transcription Factor Gene AP-2γ Essential for Early Murine Development
TLDR
Analysis of embryo cultures suggests that AP-2γ is also implicated in the regulation of the adenosine deaminase gene, a gene involved in purine metabolism found expressed at the maternal-fetal interface and seems to be required in early embryonic development because it regulates the genetic programs controlling proliferation and differentiation of extraembryonic trophectodermal cells. Expand
Aetiological diagnosis in hearing-impaired children--clinical value and application of a modern examination programme.
  • A. Parving
  • Medicine
  • International journal of pediatric otorhinolaryngology
  • 1984
TLDR
The present investigation demonstrates that extensive interdisciplinary cooperation with physicians outside the field of audiology is necessary for the aetiological diagnosis of hearing impairment in childhood. Expand
Transcription factor gene AP-2 gamma essential for early murine development.
TLDR
Analysis of embryo cultures suggests that AP-2 gamma is also implicated in the regulation of the adenosine deaminase gene, a gene involved in purine metabolism found expressed at the maternal-fetal interface, and seems to be required in early embryonic development because it regulates the genetic programs controlling proliferation and differentiation of extraembryonic trophectodermal cells. Expand
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
TLDR
The multipoint engine for rapid likelihood inference (Merlin) is a computer program that uses sparse inheritance trees for pedigree analysis; it performs rapid haplotyping, genotype error detection and affected pair linkage analyses and can handle more markers than other pedigree analysis packages. Expand
PedCheck: a program for identification of genotype incompatibilities in linkage analysis.
TLDR
Four error-checking algorithms are implemented in a new computer program, PedCheck, which will assist researchers in identifying all Mendelian inconsistencies in pedigree data and will provide them with useful and detailed diagnostic information to help resolve the errors. Expand
Incorrect specification of marker allele frequencies: effects on linkage analysis.
TLDR
Before linkage analyses are performed for specific pedigrees, it is recommended that simulation analyses be performed, followed by uncertainty and sensitivity analyses, because identification of erroneous frequencies may result in false-positive evidence for linkage. Expand
...
1
2
3
...