PMID- 29425068
OWN - NLM
STAT- MEDLINE
DCOM- 20180727
LR  - 20201209
IS  - 1945-0257 (Electronic)
IS  - 1945-0257 (Linking)
VI  - 22
IP  - 2
DP  - 2018 Feb
TI  - STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of 
      Early-Onset Hereditary Hearing Loss in the Czech Population.
PG  - 127-134
LID - 10.1089/gtmb.2017.0155 [doi]
AB  - INTRODUCTION: Hearing loss (HL) is the most common sensory deficit in humans. HL 
      is an extremely heterogeneous condition presenting most frequently as a 
      nonsyndromic (NS) condition inherited in an autosomal recessive (AR) pattern, 
      termed DFNB. Mutations affecting the STRC gene cause DFNB type 16. Various types 
      of mutations within the STRC gene have been reported from the U.S. and German 
      populations, but no information about the relative contribution of STRC mutations 
      to NSHL-AR among Czech patients is available. METHODS AND PATIENTS: Two hundred 
      and eighty-eight patients with prelingual NSHL, either sporadic (n = 207) or AR 
      (n = 81), who had been previously tested negative for the mutations affecting the 
      GJB2 gene, were included in the study. These patients were tested for STRC 
      mutations by a quantitative comparative fluorescent polymerase chain reaction 
      (QF-PCR) assay. In addition, 31 of the 81 NSHL-AR patients were analyzed by 
      massively parallel sequencing using one of two different gene panels: 23 patients 
      were analyzed by multiplex-ligation probe amplification (MLPA); and 9 patients by 
      SNP microarrays. RESULTS: Causal mutations affecting the STRC gene (including 
      copy number variations [CNVs] and point mutations) were found in 5.5% of all 
      patients and 13.6% of the 81 patients in the subgroup with NSHL-AR. CONCLUSION: 
      Our results provide strong evidence that STRC gene mutations are an important 
      cause of NSHL-AR in Czech HL patients and are probably the second most common 
      cause of DFNB. Large CNVs were more frequent than point mutations and it is 
      reasonable to test them first by a QF-PCR method-a simple, accessible, and 
      efficient tool for STRC CNV detection, which can be combined by MLPA.
FAU - Markova, Simona Poisson
AU  - Markova SP
AD  - 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, 
      Motol University Hospital, Charles University in Prague , Prague, Czech Republic 
      .
FAU - Brozkova, Dana Safka
AU  - Brozkova DS
AD  - 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, 
      Motol University Hospital, Charles University in Prague , Prague, Czech Republic 
      .
FAU - Lassuthova, Petra
AU  - Lassuthova P
AD  - 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, 
      Motol University Hospital, Charles University in Prague , Prague, Czech Republic 
      .
FAU - Meszarosova, Anna
AU  - Meszarosova A
AD  - 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, 
      Motol University Hospital, Charles University in Prague , Prague, Czech Republic 
      .
FAU - Krutova, Marcela
AU  - Krutova M
AD  - 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, 
      Motol University Hospital, Charles University in Prague , Prague, Czech Republic 
      .
FAU - Neupauerova, Jana
AU  - Neupauerova J
AD  - 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, 
      Motol University Hospital, Charles University in Prague , Prague, Czech Republic 
      .
FAU - Raskova, Dagmar
AU  - Raskova D
AD  - 2 Gennet , Prague, Czech Republic .
FAU - Trkova, Marie
AU  - Trkova M
AD  - 2 Gennet , Prague, Czech Republic .
FAU - Stanek, David
AU  - Stanek D
AD  - 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, 
      Motol University Hospital, Charles University in Prague , Prague, Czech Republic 
      .
FAU - Seeman, Pavel
AU  - Seeman P
AD  - 1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, 
      Motol University Hospital, Charles University in Prague , Prague, Czech Republic 
      .
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Genet Test Mol Biomarkers
JT  - Genetic testing and molecular biomarkers
JID - 101494210
RN  - 0 (Intercellular Signaling Peptides and Proteins)
RN  - 0 (Membrane Proteins)
RN  - 0 (STRC protein, human)
SB  - IM
MH  - Czech Republic
MH  - Hearing Loss/*genetics
MH  - Humans
MH  - Intercellular Signaling Peptides and Proteins
MH  - Membrane Proteins/*genetics
MH  - *Mutation
MH  - Polymerase Chain Reaction
MH  - Sequence Deletion
OTO - NOTNLM
OT  - CNV
OT  - DFNB
OT  - NSHL
OT  - STRC
OT  - deafness
OT  - hearing loss
EDAT- 2018/02/10 06:00
MHDA- 2018/07/28 06:00
CRDT- 2018/02/10 06:00
PHST- 2018/02/10 06:00 [entrez]
PHST- 2018/02/10 06:00 [pubmed]
PHST- 2018/07/28 06:00 [medline]
AID - 10.1089/gtmb.2017.0155 [doi]
PST - ppublish
SO  - Genet Test Mol Biomarkers. 2018 Feb;22(2):127-134. doi: 10.1089/gtmb.2017.0155.