Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects
Abstract
:1. Introduction
2. Materials and Methods
2.1. Human Subjects
2.2. DNA Purification, Genotyping and MLPA
2.3. Sanger DNA Sequencing
2.4. Targeted Massively Parallel DNA Sequencing
2.5. Assessment of Pathogenicity of DNA Variants
3. Results
3.1. Haplotype Analysis and PCR-Based Detection of Deletions Involving STRC
3.2. Screening through Massively Parallel DNA Sequencing
3.3. Genotype–Phenotype Correlations
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Assay | Amplicon Size (bp) | Primers (5′-3′) |
---|---|---|
PCR1 | 15,665 | Upper: AGTTTGTTTCTCCTGGGCGTCAT Lower: GAGCACTGTGAGAAATAGGGATCAAA |
PCR2 | 6240 | Upper: GCCCAGCTCCACCTGAATCC Lower. TGTGAACGGCGTCTGGAGAGA |
Case | Type | Allele 1 | Allele 2 |
---|---|---|---|
HRC1 | F | Deletion—Type 1 | Deletion—Type 1 |
HRC2 | F | c.4483_4484del/p.(Phe1495Cysfs*9) | Deletion—Type 1 |
HRC3 | F | Deletion—Type 1 | Deletion—Type 1 |
HRC4 | F | Deletion—Type 1 | Deletion—Type 1 |
HRC5 | F | Deletion—Type 1 | Deletion—Type 1 |
HRC6 | F | Deletion—Type 1 | Deletion—Type 1 |
HRC7 | F | c.3823G > T/p.(Glu1275*) | c.4559C > G/p.(Pro1520Arg) [16] |
HRC8 | F | Deletion—Type 1 | Deletion—Type 1 |
HRC9 | F | c.1768T > C/p.(Cys590Arg) | Deletion—Type 1 |
HRC10 | F | Deletion—Type 2 | Deletion—Type 2 |
HRC11 | F | Deletion—Type 1 | Deletion—Type 1 |
HRC12 | S | Deletion—Type 1 | Deletion—Type 1 |
HRC13 | F | c.4096G > T/p.(Gly1366*) | Deletion—Type 1 |
HRC14 | F | —Deletion—Type 1 | Deletion—Type 1 |
HRC15 | S | Deletion—Type 1 | Deletion—Type 4 |
HRC16 | S | Deletion—Type 1 | Deletion—Type 1 |
HRC17 | S | Deletion—Type 1 | Deletion—Type 1 |
HRC18 | S | Deletion—Type 1 | Deletion—Type 1 |
IHT1 | F | c.1030C > T/p.(Arg344*) | Deletion—Type 3 |
IHT2 | S | Deletion—Type 1 | Deletion—Type 1 |
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Domínguez-Ruiz, M.; Ruiz-Palmero, L.; Buonfiglio, P.I.; García-Vaquero, I.; Gómez-Rosas, E.; Goñi, M.; Villamar, M.; Morín, M.; Moreno-Pelayo, M.A.; Elgoyhen, A.B.; et al. Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects. Biomedicines 2023, 11, 2943. https://doi.org/10.3390/biomedicines11112943
Domínguez-Ruiz M, Ruiz-Palmero L, Buonfiglio PI, García-Vaquero I, Gómez-Rosas E, Goñi M, Villamar M, Morín M, Moreno-Pelayo MA, Elgoyhen AB, et al. Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects. Biomedicines. 2023; 11(11):2943. https://doi.org/10.3390/biomedicines11112943
Chicago/Turabian StyleDomínguez-Ruiz, María, Laura Ruiz-Palmero, Paula I. Buonfiglio, Irene García-Vaquero, Elena Gómez-Rosas, Marina Goñi, Manuela Villamar, Matías Morín, Miguel A. Moreno-Pelayo, Ana B. Elgoyhen, and et al. 2023. "Novel Pathogenic Variants in the Gene Encoding Stereocilin (STRC) Causing Non-Syndromic Moderate Hearing Loss in Spanish and Argentinean Subjects" Biomedicines 11, no. 11: 2943. https://doi.org/10.3390/biomedicines11112943