Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F

Ammar-Khodja, Fatima; Faugère, Valérie; Baux, David; Giannesini, C.; Léonard, Susana; Makrelouf, Mohamed; R, Malek; Djennaoui, Djamel; Zenati, Akila; Claustres, Mireille; Roux, Anne‐Françoise

doi:10.1016/j.ejmg.2009.03.018

Cited by 29 publications

(17 citation statements)

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“…Development of stereocilia requires several myosins and their associated cargo, and mutations of seven different myosins cause deafness in humans and mice (Table 1). Pathogenic alleles of MYO7A encoding myosin 7a cause recessive nonsyndromic deafness DFNB2, dominant nonsyndromic deafness DFNA11, or Type 1 Usher Syndrome (USH1B), a genetically heterogeneous deaf-blindness syndrome characterized by progressive loss of vision due to retinitis pigmentosa, vestibular dysfunction and congenital deafness (Weil et al, 1995, 1997; Liu et al, 1997; Luijendijk et al, 2004; Riazuddin et al, 2008; Ammar-Khodja et al, 2009; Ben Rebeh et al, 2010; Hildebrand et al, 2010; Friedman et al, 2011). The phenotypic outcome is hypothesized to depend on the level of residual function of the mutant allele.…”

Section: Actin-binding Proteins In Stereocilia and Associated Strumentioning

confidence: 99%

Actin in hair cells and hearing loss

et al. 2012

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Hereditary deafness is genetically heterogeneous such that mutations of many different genes can cause hearing loss. This review focuses on the evidence and implications that several of these deafness genes encode actin-interacting proteins or actin itself. There is a growing appreciation of the contribution of the actin interactome in stereocilia development, maintenance, mechanotransduction and malfunction of the auditory system.

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Section: Actin-binding Proteins In Stereocilia and Associated Strumentioning

confidence: 99%

Actin in hair cells and hearing loss

et al. 2012

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“…18, 19, 20, 21, 22 The splice mutation c.−23+1G>A is found in several populations (including Caucasian, Bangladeshi, Egyptian, Algerian, Czech, Turkish, Mongolian, and Chinese). 18, 23, 24, 25, 26, 27, 28 Snoeckx et al 29 have compiled data from many centres in an effort to try to establish correlation between genotype and phenotype. They were able to distinguish between ‘severe' alleles, which tended to be truncating, and ‘mild' alleles, often non-truncating missense or splice mutations, but many could not be graded due to their relatively rare occurrence in the population.…”

Section: Introductionmentioning

confidence: 99%

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

2013

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“…The spectrum of genes and mutations involved in Algerian USH patients is still poorly defined because only a few Algerian patients have been studied so far [23, 24]. We analyzed the molecular bases of USH in 18 unrelated Algerian patients, 16 of them being affected by USH1 and the other two by USH2, by targeted-exome sequencing of the ten identified USH genes.…”

Section: Introductionmentioning

confidence: 99%

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

et al. 2016

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Usher syndrome (USH) is an autosomal recessive disorder characterized by a dual sensory impairment affecting hearing and vision. USH is clinically and genetically heterogeneous. Ten different causal genes have been reported. We studied the molecular bases of the disease in 18 unrelated Algerian patients by targeted-exome sequencing, and identified the causal biallelic mutations in all of them: 16 patients carried the mutations at the homozygous state and 2 at the compound heterozygous state. Nine of the 17 different mutations detected in MYO7A (1 of 5 mutations), CDH23 (4 of 7 mutations), PCDH15 (1 mutation), USH1C (1 mutation), USH1G (1 mutation), and USH2A (1 of 2 mutations), had not been previously reported. The deleterious consequences of a missense mutation of CDH23 (p.Asp1501Asn) and the in-frame single codon deletion in USH1G (p.Ala397del) on the corresponding proteins were predicted from the solved 3D-structures of extracellular cadherin (EC) domains of cadherin-23 and the sterile alpha motif (SAM) domain of USH1G/sans, respectively. In addition, we were able to show that the USH1G mutation is likely to affect the binding interface between the SAM domain and USH1C/harmonin. This should spur the use of 3D-structures, not only of isolated protein domains, but also of protein-protein interaction interfaces, to predict the functional impact of mutations detected in the USH genes.

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Molecular screening of deafness in Algeria: High genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F

Cited by 29 publications

References 31 publications

Actin in hair cells and hearing loss

Actin in hair cells and hearing loss

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

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