[HTML][HTML] Autosomal recessive nonsyndromic deafness genes: a review
More than 50 percent of prelingual hearing loss is genetic in origin, and of these up to 93
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …
percent are monogenic autosomal recessive traits. Some forms of genetic deafness can be …
The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review
CL Ford, WJ Riggs, T Quigley, OP Keifer Jr, JP Whitton… - Human Genetics, 2023 - Springer
Congenital hearing loss affects one in 500 newborns. Sequence variations in OTOF, which
encodes the calcium-binding protein otoferlin, are responsible for 1–8% of congenital …
encodes the calcium-binding protein otoferlin, are responsible for 1–8% of congenital …
Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82
Massively parallel sequencing of targeted regions, exomes, and complete genomes has
begun to dramatically increase the pace of discovery of genes responsible for human …
begun to dramatically increase the pace of discovery of genes responsible for human …
Copy number variants are a common cause of non-syndromic hearing loss
Abstract Background Copy number variants (CNVs) are a well-recognized cause of genetic
disease; however, methods for their identification are often gene-specific, excluded as …
disease; however, methods for their identification are often gene-specific, excluded as …
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families
Z Brownstein, LM Friedman, H Shahin, V Oron-Karni… - Genome biology, 2011 - Springer
Background Identification of genes responsible for medically important traits is a major
challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted …
challenge in human genetics. Due to the genetic heterogeneity of hearing loss, targeted …
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran
CM Sloan-Heggen, M Babanejad… - Journal of medical …, 2015 - jmg.bmj.com
Background Countries with culturally accepted consanguinity provide a unique resource for
the study of rare recessively inherited genetic diseases. Although hereditary hearing loss …
the study of rare recessively inherited genetic diseases. Although hereditary hearing loss …
[HTML][HTML] Non-syndromic hearing loss gene identification: A brief history and glimpse into the future
B Vona, I Nanda, MAH Hofrichter… - Molecular and cellular …, 2015 - Elsevier
From the first identified non-syndromic hearing loss gene in 1995, to those discovered in
present day, the field of human genetics has witnessed an unparalleled revolution that …
present day, the field of human genetics has witnessed an unparalleled revolution that …
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness
Deafness in humans is a common neurosensory disorder and is genetically heterogeneous.
Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the …
Across diverse ethnic groups, mutations of MYO15A at the DFNB3 locus appear to be the …
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity
R Abou Jamra, S Wohlfart, M Zweier, S Uebe… - European Journal of …, 2011 - nature.com
Non-specific intellectual disability of autosomal recessive inheritance (NS-ARID) represents
an important fraction of severe cognitive dysfunction disorders. To date, only 10 genes have …
an important fraction of severe cognitive dysfunction disorders. To date, only 10 genes have …
Genomic analysis of inherited hearing loss in the Palestinian population
A Abu Rayyan, L Kamal, S Casadei… - Proceedings of the …, 2020 - National Acad Sciences
The genetic characterization of a common phenotype for an entire population reveals both
the causes of that phenotype for that place and the power of family-based, population-wide …
the causes of that phenotype for that place and the power of family-based, population-wide …