Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia).

PLoS One. 2016;11(4):e0153841

Authors: Сhurbanov AY, Karafet TM, Morozov IV, Mikhalskaia VY, Zytsar MV, Bondar AA, Posukh OL

Abstract
Hearing loss (HL) is one of the most common sensorineural disorders and several dozen genes contribute to its pathogenesis. Establishing a genetic diagnosis of HL is of great importance for clinical evaluation of deaf patients and for estimating recurrence risks for their families. Efforts to identify genes responsible for HL have been challenged by high genetic heterogeneity and different ethnic-specific prevalence of inherited deafness. Here we present the utility of whole exome sequencing (WES) for identifying candidate causal variants for previously unexplained nonsyndromic HL of seven patients from four unrelated Altaian families (the Altai Republic, South Siberia). The WES analysis revealed homozygous missense mutations in three genes associated with HL. Mutation c.2168A>G (SLC26A4) was found in one family, a novel mutation c.1111G>C (OTOF) was revealed in another family, and mutation c.5254G>A (RAI1) was found in two families. Sanger sequencing was applied for screening of identified variants in an ethnically diverse cohort of other patients with HL (n = 116) and in Altaian controls (n = 120). Identified variants were found only in patients of Altaian ethnicity (n = 93). Several lines of evidences support the association of homozygosity for discovered variants c.5254G>A (RAI1), c.1111C>G (OTOF), and c.2168A>G (SLC26A4) with HL in Altaian patients. Local prevalence of identified variants implies possible founder effect in significant number of HL cases in indigenous population of the Altai region. Notably, this is the first reported instance of patients with RAI1 missense mutation whose HL is not accompanied by specific traits typical for Smith-Magenis syndrome. Presumed association of RAI1 gene variant c.5254G>A with isolated HL needs to be proved by further experimental studies.

PMID: 27082237 [PubMed - as supplied by publisher]

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Quality of Life in Pediatric Cochlear Implantations.

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Quality of Life in Pediatric Cochlear Implantations.

J Int Adv Otol. 2015 Dec;11(3):218-21

Authors: Yorgun M, Sürmelioğlu Ö, Tuncer Ü, Tarkan Ö, Özdemir S, Çekiç E, Çetik F, Kıroğlu M

Abstract
OBJECTIVE: To evaluate the satisfaction of patients with a cochlear implant using a Parents' Perspective Questionnaire and analyze the significant parameters.
MATERIALS AND METHODS: Patients who received a cochlear implant in Çukurova University between March 2002 and November 2012 were included in the study. Parents were asked to answer the Parents' Perspective Questionnaire.
RESULTS: The age ranges of 62 patients were 2-5 years and of 99 patients were 6-11 years and over. In total, 144 parents were satisfied with the cochlear implant. Patients who attended school had more self-confidence, and users of an implant aged over 18 months had better social relations and self-confidence.
CONCLUSION: Cochlear implants' positive effect on the quality of life is a fact, but parents have concerns in the preoperative and postoperative periods. Patients and parents should be informed carefully about cochlear implants. Also, patients' satisfaction is correlated with increasing duration of the implant and age.

PMID: 26915153 [PubMed - indexed for MEDLINE]

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Hearing in Cavefishes.

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Hearing in Cavefishes.

Adv Exp Med Biol. 2016;877:187-95

Authors: Soares D, Niemiller ML, Higgs DM

Abstract
Caves and associated subterranean habitats represent some of the harshest environments on Earth, yet many organisms, including fishes, have colonized and thrive in these habitats despite the complete absence of light, and other abiotic and biotic constraints. Over 170 species of fishes are considered obligate subterranean inhabitants (stygobionts) that exhibit some degree of troglomorphy, including degeneration of eyes and reduction in pigmentation. To compensate for lack of vision, many species have evolved constructive changes to non-visual sensory modalities. In this chapter we review hearing in cavefishes, with particular emphasize on our own studies on amblyopsid cavefishes. Hearing in cavefishes has not been well studied to date, as hearing ability has only been examined in four species. Two species show no differences in hearing ability relative to their surface relatives, while the other two species (family Amblyopsidae) exhibit regression in the form of reduced hearing range and reduction in hair cell densities on sensory epithelia. In addition to reviewing our current knowledge on cavefish hearing, we offer suggestions for future avenues of research on cavefish hearing and discuss the influence of Popper and Fay on the field of cavefish bioacoustics.

PMID: 26515315 [PubMed - indexed for MEDLINE]

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