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- Title
Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review.
- Authors
Resmerita, Irina; Cozma, Romica Sebastian; Popescu, Roxana; Radulescu, Luminita Mihaela; Panzaru, Monica Cristina; Butnariu, Lacramioara Ionela; Caba, Lavinia; Ilie, Ovidiu-Dumitru; Gavril, Eva-Cristiana; Gorduza, Eusebiu Vlad; Rusu, Cristina
- Abstract
Background: We have investigated the main genetic causes for non-syndromic hearing impairment (NSHI) in the hearing impairment individuals from the North-Eastern Romania and proposed a cost-effective diagnosis protocol. Methods: MLPA followed by Sanger Sequencing were used for all 291 patients included in this study. Results: MLPA revealed abnormal results in 141 cases (48.45%): 57 (40.5%) were c.35delG homozygous, 26 (18.44%) were c.35delG heterozygous, 14 (9.93%) were compound heterozygous and 16 (11.35%) had other types of variants. The entire coding region of GJB2 was sequenced and out of 150 patients with normal results at MLPA, 29.33% had abnormal results: variants in heterozygous state: c.71G>A (28%), c.457G>A (20%), c.269T>C (12%), c.109G>A (12%), c.100A>T (12%), c.551G>C (8%). Out of 26 patients with c.35delG in heterozygous state, 38.46% were in fact compound heterozygous. Conclusions: We identified two variants: c.109G>A and c.100A>T that have not been reported in any study from Romania. MLPA is an inexpensive, rapid and reliable technique that could be a cost-effective diagnosis method, useful for patients with hearing impairment. It can be adaptable for the mutation spectrum in every population and followed by Sanger sequencing can provide a genetic diagnosis for patients with different degrees of hearing impairment.
- Subjects
ROMANIA; HEARING disorders; LITERATURE reviews; GENETICS; HUMAN chromosome abnormality diagnosis; DIAGNOSIS methods
- Publication
Genes, 2020, Vol 11, Issue 12, p1506
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes11121506