Mutations of the<i>RDX</i>gene cause nonsyndromic hearing loss at the<i>DFNB24</i>locus

Khan, Shahid Y.; Ahmed, Zubair M.; Shabbir, Muhammad Imran; Kitajiri, Shin Ichiro; Kalsoom, Saeeda; Tasneem, Saba; Shayiq, Sara; Ramesh, A.; Srisailpathy, Srikumari; Khan, Shaheen N.; Smith, Richard J.H.; Riazuddin, Saima; Friedman, Thomas B.; Riazuddin, Sheikh

doi:10.1002/humu.20469

Cited by 78 publications

(60 citation statements)

References 31 publications

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“…This will require the development of unique tools that detect and interfere with the function of each ERM individually. An understanding of the molecular and cellular functions of mammalian ERMs will yield new insights into fundamental aspects of mammalian development and into established links between aberrant ERM activity and human disease processes, including pathogen-host interactions, deafness, microvillus inclusion disease, and cancer development and metastasis (Clucas and Valderrama, 2014;Dhekne et al, 2014;Hebert et al, 2012;Khan et al, 2007;Kubo et al, 2008;Skoudy et al, 1999).…”

Section: Perspectivesmentioning

confidence: 99%

ERM proteins at a glance

McClatchey

2014

Journal of Cell Science

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The cell cortex is a dynamic and heterogeneous structure that governs cell identity and behavior. The ERM proteins (ezrin, radixin and moesin) are major architects of the cell cortex, and they link plasma membrane phospholipids and proteins to the underlying cortical actin cytoskeleton. Recent studies in several model systems have uncovered surprisingly dynamic and complex molecular activities of the ERM proteins and have provided new mechanistic insight into how they build and maintain cortical domains. Among many well-established and essential functions of ERM proteins, this Cell Science at a Glance article and accompanying poster will focus on the role of ERMs in organizing the cell cortex during cell division and apical morphogenesis. These examples highlight an emerging appreciation that the ERM proteins both locally alter the mechanical properties of the cell cortex, and control the spatial distribution and activity of key membrane complexes, establishing the ERM proteins as a nexus for the physical and functional organization of the cell cortex and making it clear that they are much more than scaffolds.This article is part of a Minifocus on Establishing polarity. For further reading, please see related articles: 'Establishment of epithelial polarity -GEF who's minding the GAP?' by Siu Ngok et al. (J. Cell Sci. 127,(3205)(3206)(3207)(3208)(3209)(3210)(3211)(3212)(3213)(3214)(3215). 'Integrins and epithelial cell polarity' by Jessica Lee and Charles Streuli (J. Cell Sci. 127, 3217-3225).

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Section: Perspectivesmentioning

confidence: 99%

ERM proteins at a glance

McClatchey

2014

Journal of Cell Science

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“…102 Mutations in this gene can lead to autosomal recessive HL (DFNB24). 103,104 It contains 14 exons. There are two RDX psuedogenes in the human genome; a truncated version of the gene named RDXP2 was mapped to Xp21.3 and another one, RDXP1, was mapped on chromosome 11p.…”

Section: Genetic Causes Of Nshl In Iran N Mahdieh Et Almentioning

confidence: 99%

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

et al. 2010

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Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to analyze and determine the accurate genetic causes of the impairment. Up to now, 10 genes, namely, GJB2, GJB6, SLC26A4, TECTA, PJVK, Col11A2, Myo15A, TMC1, RDX and microRNA (miR-183), have been studied in an Iranian population. The prevalence of HL in Iran was estimated to be 2-3 times higher than that in other parts of the world. Here, the most common bases of congenital nonsyndromic hearing loss (NSHL) are discussed. We reviewed GJB2, GJB6 (large deletion), TECTA, SLC26A4 and PEJVK mutations, and studied their frequencies and distributions in different ethnic groups in 1934, 500, 121, 80 and 34 unrelated families throughout Iran, respectively. GJB2 mutation was the most common factor causing NSHL, with a mean frequency of 18.17% in the Iranian population. The importance of Iran's geographical location in the migration pathway from west to east through the silk route was also highlighted. SLC26A4 and TECTA mutations were the second and third main reasons of HL and accounted for up to 10 and 4% of prelingual HL in Iran, respectively. Mutations in GJB2, SLC26, TECTA and PJVK genes have an important role in HL in Iran and a screening test should be generated for better intervention and diagnosis programs.

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“…[28][29][30][31][32][33][34][35][36][37][38][39][40][41][42] Most of the Usher syndrome causative genes are included in this group and are expressed in the stereocilia (Figures 2A, 2B). LOXHD1 and GIPC3 are not components of the stereocilia; however, mutations in these genes in mice were shown to lead to degeneration of the stereocilia.…”

Section: Table 3 (Continued)mentioning

confidence: 99%

Gene Expression Profiles of the Cochlea and Vestibular Endorgans

Nishio

Hattori

Moteki

et al. 2015

Ann Otol Rhinol Laryngol

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Objectives: We sought to elucidate the gene expression profiles of the causative genes as well as the localization of the encoded proteins involved in hereditary hearing loss. Methods: Relevant articles (as of September 2014) were searched in PubMed databases, and the gene symbols of the genes reported to be associated with deafness were located on the Hereditary Hearing Loss Homepage using localization, expression, and distribution as keywords. Results: Our review of the literature allowed us to systematize the gene expression profiles for genetic deafness in the inner ear, clarifying the unique functions and specific expression patterns of these genes in the cochlea and vestibular endorgans. Conclusions:The coordinated actions of various encoded molecules are essential for the normal development and maintenance of auditory and vestibular function.

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Mutations of theRDXgene cause nonsyndromic hearing loss at theDFNB24locus

Cited by 78 publications

References 31 publications

ERM proteins at a glance

ERM proteins at a glance

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

Gene Expression Profiles of the Cochlea and Vestibular Endorgans

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