STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61988987%3A17110%2F17%3AA1801TRO" target="_blank" >RIV/61988987:17110/17:A1801TRO - isvavai.cz</a>
Alternative codes found
RIV/61989592:15110/17:73585000 RIV/00843989:_____/17:E0106642
Result on the web
<a href="https://journals.lww.com/otology-neurotology/Abstract/2017/12000/STRC_Deletion_is_a_Frequent_Cause_of_Slight_to.9.aspx" target="_blank" >https://journals.lww.com/otology-neurotology/Abstract/2017/12000/STRC_Deletion_is_a_Frequent_Cause_of_Slight_to.9.aspx</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/MAO.0000000000001571" target="_blank" >10.1097/MAO.0000000000001571</a>
Alternative languages
Result language
angličtina
Original language name
STRC Deletion is a Frequent Cause of Slight to Moderate Congenital Hearing Impairment in the Czech Republic
Original language description
Objective: This study aimed to clarify the molecular epidemiology of hearing loss by identifying the responsible genes in patients without GJB2 mutations. Study Design: Prospective genetic study. Setting: Tertiary referral hospital. Patients: Fifty one patients with bilateral sensorineural hearing loss, 20 men, and 31 women, mean age 24.9 years, range 3 to 64 years, from 49 families. GJB2 and deltaGJB6-D13S1830 mutations were excluded previously. Intervention: Diagnostic. Sixty-nine genes reported to be causative of hearing loss were analyzed. Sequence capture technology, next-generation sequencing, and multiplex ligation- dependent probe amplification (MLPA) were used. Coverage of STRC was screened in Integrative Genomics Viewer software. Main Outcome Measure: Identification of causal pathogenic mutations in genes related to deafness. Results: Five families (10%) had recessive STRC deletions or mutations. Five unrelated patients (10%) had recessive mutations in TMPRSS3, USH2A, PCDH15, LOXHD1, and MYO15A. Three families (6%) had autosomal dominant mutations in MYO6A, KCNQ4, and SIX1. One family (2%) had an X-linked POU3F4 mutation. Thus, we identified the cause of hearing loss in 28% of the families studied. Conclusions: Following GJB2, STRC was the second most frequently mutated gene in patients from the Czech Republic with hearing loss. To decrease the cost of testing, we recommend STRC deletion screening with MLPA before next-generation sequencing. The existence of a pseudogene and polymorphic STRC regions can lead to false-positive or false-negative results when copy number variation analysis is based on next-generation sequencing data.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30101 - Human genetics
Result continuities
Project
<a href="/en/project/NT12246" target="_blank" >NT12246: Epidemiological and genetic study of the frequency of hearing loss</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
OTOLOGY & NEUROTOLOGY
ISSN
1531-7129
e-ISSN
1537-4505
Volume of the periodical
10
Issue of the periodical within the volume
10
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
393-400
UT code for WoS article
000425284200002
EID of the result in the Scopus database
2-s2.0-85033776542