Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients
Abstract
:1. Introduction
2. Results
Genetic Screening
3. Discussion
4. Materials and Methods
4.1. Patients
4.2. Clinical Characteristics of the Patients
4.3. Genetic Analysis
4.4. Statistical Analysis
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Variant—HGVS | MAF | ACMG | Number of Cases (Homozygous/Compound Heterozygous/Heterozygous) |
---|---|---|---|
c.35delG; p.Gly12ValfsTer2 | 0.00597 | Pathogenic a | 56/11/4 |
c.71G>A; p.Trp24Ter | 0.00058 | Pathogenic a | 0/0//1 |
c.101T>C; p.Met34Thr | 0.00868 | Pathogenic a | 0/1//2 |
c.109G>T; p.Val37Phe | 0 | Pathogenic a | 0/2/0 |
c.119C>A; p.Ala40Glu | 0 | Pathogenic b | 0/0//1 |
c.139G>T; p.Glu47Ter | 0.00013 | Pathogenic a | 0/1/0 |
c.167delT; p.Leu56ArgfsTer26 | 0.00089 | Pathogenic a | 0/3/0 |
c.269T>C; p.Leu90Pro | 0.00065 | Pathogenic a | 0/1/0 |
c.313_326del; p.Lys105GlyfsTer5 | 0.00013 | Pathogenic a | 0/2/0 |
c.427C>T; p.Arg143Trp | 0.00012 | Pathogenic | 0/2/0 |
c.439G>A; p.Glu147Lys | 0.00001 | Pathogenic b | 0/1/0 |
c.551G>C; p.Arg184Pro | 0.00006 | Pathogenic | 0/1/0 |
c.−23+1G>A (IVS1+1G>A) | 0.00019 | Pathogenic a | 0/3/0 |
Gene | Transcript (hg19) | Variant—HGVS (cDNA; Protein) | MAF | ACMG Classification | Inherit. | No of Alleles | No of Cases (hmz/Compound htz/htz) |
---|---|---|---|---|---|---|---|
CDH23 | NM_022124 | c.6204del; p.Phe2069LeufsTer11 | 0 | LP | AR | 1 | 0/0/1 |
CDH23 | NM_022124 | c.1349_1350del; p.Leu450HisfsTer3 | 0 | LP | AR | 1 | 0/1/0 |
CDH23 | NM_022124 | c.4846-2A>G; p.? | 0 | P | AR | 1 | 0/1/0 |
COL11A2 | NM_080680.3 | c.3403G>C; p.Gly1135Arg | 0 | VUS/LP | AR/AD | 1 | 0/1/0 |
COL11A2 | NM_080680.3 | c.1297C>T; p.Arg433Ter | 0 | LP | AR/AD | 1 | 0/1/0 |
KCNQ4 | NM_004700 | c.647G>C; p.Arg216Pro | 0 | VUS | AD | 1 | 0/0/1 |
KCNQ4 | NM_004700 | c.1031_1040del; p.Asn344ArgfsTer11 | 0 | P | AD | 1 | 0/0/1 |
MARVELD2 | NM_001038603 | c.1331+2T>C; p.? | 0.0000398 | P | AR | 4 | 2/0/0 |
MYO15A | NM_016239 | c.2493_2505del; p.Arg832ProfsTer27 | 0 | LP | AR | 1 | 0/1/0 |
MYO15A | NM_016239 | c.2677C>T; p.Arg893Ter | 0.0000211 | P | AR | 1 | 0/1/0 |
MYO15A | NM_016239 | c.4030C>T; p.Gln1344Ter | 0 | P | AR | 1 | 0/1/0 |
MYO15A | NM_016239 | c.8183G>A; p.Arg2728His | 0.000189 | P | AR | 1 | 0/1/0 |
MYO15A | NM_016239 | c.8153T>C; p.Leu2718Pro | 0 | VUS/LP | AR | 1 | 0/1/0 |
MYO15A | NM_016239 | c.8548C>T; p.Arg2850Ter | 0.00002 | P | AR | 1 | 0/1/0 |
MYO7A | NM_000260 | c.268C>T; p.Arg90Trp | 0.0000438 | VUS/LP | AD/AR | 1 | 0/0/1 |
MYO7A | NM_000260 | c.770G>T; p.Cys257Phe | 0 | VUS | AD/AR | 1 | 0/0/1 |
MYO7A | NM_000260 | c.4087G>A; p.Ala1363Thr | 0 | VUS | AD/AR | 1 | 0/0/1 |
OSBPL2 | NM_001363878 | c.313C>T; p.His105Tyr | 0.0000159 | VUS | AD | 1 | 0/0/1 |
OTOF | NM_194248.3 | c.2665del; p.Leu889SerfsTer111 | 0 | LP | AR | 1 | 0/0/1 |
POU3F4 | NM_000307 | c.446G>T; p.Gly149Val | 0 | VUS | XR | 1 | 0/0/1 |
POU4F3 | NM_002700 | c.868G>C; p.Glu290Gln | 0.00000398 | VUS/LP | AD | 1 | 0/0/1 |
PNPT1 | NM_033109.5 | c.79delG; p.Asp27IlefsTer25 | 0 | LP | AR | 1 | 0/0/1 |
PTPRQ | NM_001145026 | c.5959C>T; p.Gln1987Ter | 0 | LP | AR | 5 | 2/0/1 |
SLC26A4 | NM_000441 | c.349C>T; p.Leu117Phe | 0.000326 | LP | AR | 1 | 0/1/0 |
SLC26A4 | NM_000441 | c.1204G>T; p.Val402Leu | 0 | P | AR | 1 | 0/1/0 |
SLC26A4 | NM_000441 | c.1670G>T; p.Gly557Val | 0.00000399 | LP | AR | 2 | 1/0/0 |
TECTA | NM_005422 | c.6094G>T; p.Asp2032Tyr | 0.00000398 | VUS/LP | AD/AR | 1 | 0/0/1 |
TJP2 | NM_001170416 | c.53T>A; p.Leu18Ter | 0 | VUS/LP | AD | 1 | 0/0/1 |
TMC1 | NM_138691 | c.312_325del; p.Val106MetfsTer8 | 0 | LP | AD/AR | 1 | 0/1/0 |
TMC1 | NM_138691 | c.2030T>C; p.Ile677Tyr | 0.0000119 | VUS/LP | AD/AR | 2 | 1/0/0 |
TMC1 | NM_138691 | c.2050G>A; p.Asp684Asn | 0.0000239 | VUS/LP | AD/AR | 1 | 0/1/0 |
TMPRSS3 | NM_001256317 | c.208delC; p.His70ThrfsTer19 | 0.000489 | P | AR | 3 | 1/1/0 |
TMPRSS3 | NM_001256317 | c.646C>T; p.Arg216Cys | 0.00002387 | P | AR | 1 | 0/1/0 |
USH1C | NM_153676.4 | c.241C>T; p.Arg81Cys | 0.00002001 | VUS | AR | 1 | 0/0/1 |
WFS1 | NM_006005 | c.958C>T; p.Pro320Ser | 0 | VUS | AD/AR | 1 | 0/0/1 |
WFS1 | NM_006005 | c.1181A>T; p.Glu394Val | 0.0001273 | LP | AD/AR | 1 | 0/0/1 |
WFS1 | NM_006005 | c.2051C>T; p.Ala684Val | 0 | P | AD/AR | 1 | 0/0/1 |
WFS1 | NM_006005 | c.2527A>G; p.Lys843Glu | 0 | VUS/LP | AD/AR | 1 | 0/0/1 |
WFS1 | NM_006005 | c.2575C>T; p.Arg859Trp | 0.0000319 | VUS | AD/AR | 1 | 0/0/1 |
STRC | NM_153700 | Contiguous gene deletion, including the CKMT1B, STRC and CATSPER2 genes | P | AR | 1 | 0/0/1 | |
OTOA | NM_170664 | Contiguous gene duplication, including the METTL9 and OTOA genes | VUS | AR | 1 | 0/0/1 |
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Pál, M.; Nagy, D.; Neller, A.; Farkas, K.; Leprán-Török, D.; Nagy, N.; Füstös, D.; Nagy, R.; Németh, A.; Szilvássy, J.; et al. Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients. Int. J. Mol. Sci. 2023, 24, 7401. https://doi.org/10.3390/ijms24087401
Pál M, Nagy D, Neller A, Farkas K, Leprán-Török D, Nagy N, Füstös D, Nagy R, Németh A, Szilvássy J, et al. Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients. International Journal of Molecular Sciences. 2023; 24(8):7401. https://doi.org/10.3390/ijms24087401
Chicago/Turabian StylePál, Margit, Dóra Nagy, Alexandra Neller, Katalin Farkas, Dóra Leprán-Török, Nikoletta Nagy, Dalma Füstös, Roland Nagy, Adrienne Németh, Judit Szilvássy, and et al. 2023. "Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients" International Journal of Molecular Sciences 24, no. 8: 7401. https://doi.org/10.3390/ijms24087401