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Rigshospitalet - en del af Københavns Universitetshospital
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Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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  3. Functional Assessment of Variants Associated with Wolfram Syndrome

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  4. Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • R Teek
  • K Kruustük
  • R Zordania
  • K Joost
  • T Kahre
  • N Tõnisson
  • M Nelis
  • O Zilina
  • L Tranebjaerg
  • T Reimand
  • K Ounap
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Abstract Purpose: The present study was initiated to establish the etiological causes of early onset hearing loss (HL) among Estonian children between 2000-2009. Methods: The study group consisted of 233 probands who were first tested with an arrayed primer extension assay, which covers 199 mutations in 7 genes (GJB2, GJB6, GJB3, SLC26A4, SLC26A5 genes, and two mitochondrial genes - 12S rRNA, tRNASer(UCN)). From probands whose etiology of HL remained unknown, DNA analysis of congenital cytomegalovirus (CMV) infection and G-banded karyotype and/or chromosomal microarray analysis (CMA) were performed. Results: In 110 (47%) cases, the etiology of HL was genetic and in 5 (2%) congenital CMV infection was diagnosed. We found mutations with clinical significance in GJB2 (100 children, 43%) and in 2 mitochondrial genes (2 patients, 1%). A single mutation in SLC26A4 gene was detected in 5 probands (2.2%) and was considered diagnostic. In 4 probands a heterozygous IVS2-2A>G change in the SLC26A5 gene was found. We did not find any instances of homozygosity for this splice variant in the probands. CMA identified in 4 probands chromosomal regions with the loss of one allele. In 2 of them we were able to conclude that the found abnormalities are definitely pathogenic (12q13.3-q14.2 and 17q22-23.2 microdeletion), but the pathogenity of 2 other findings (3p26.2 and 1p33 microdeletion) remained unknown. Conclusion: This practical diagnostic algorithm confirmed the etiology of early onset HL for 115 Estonian patients (49%). This algorithm may be generalized to other populations for clinical application.
OriginalsprogEngelsk
TidsskriftAdvances in Medical Sciences
Vol/bind58
Udgave nummer2
Sider (fra-til)419-28
ISSN1896-1126
DOI
StatusUdgivet - 9 nov. 2013

ID: 42595404