Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients. Marková, S., Šafka Brožková, D., Mészárosová, A., Neupauerová, J., Groh, D., Křečková, G., Laššuthová, P., & Seeman, P. International Journal of Pediatric Otorhinolaryngology, 86:27–33, July, 2016.
doi  abstract   bibtex   
OBJECTIVES: To evaluate the contribution of eight small NSHL-AR (non-syndromic deafness, autosomal recessive) genes to hereditary hearing loss in Czech patients. PATIENTS AND METHODS: Unrelated Czech patients, adults and children, diagnosed with pre-lingual hereditary hearing loss with at least one similarly affected deaf sibling and with previously excluded mutations in the GJB2 gene were investigated by Sanger sequencing of the selected eight small NSHL-AR associated genes (CABP2 - 51 patients, CIB2 - 45 patients, PJVK/DFNB59 - 53 patients, GJB3 - 46 patients, ILDR1 - 48 patients, LHFPL5 - 66 patients, LRTOMT - 60 patients, TMIE - 64 patients). RESULTS: Mutations were detected in the LHFPL5 (DFNB67) gene. The patient is heterozygote for two already described pathogenic variants (p.Tyr127Cys, p.Thr165Met). In five samples, five rare heterozygous variants (two novel) predicted as pathogenic were detected in genes CABP2, ILDR1, LHFPL5 and LRTOMT. CONCLUSION: Mutations in eight small NSHL-AR genes are not a frequent cause of hereditary hearing loss in the Czech Republic. This diagnostic approach permitted the clarification of HL in only one patient - two heterozygous mutations were detected in LHFPL5 gene for the first time in Central Europe. As the use of panel base MPS certainly improves the diagnostic yield, future studies should rather profit from that diagnostic strategy.
@article{markova_mutations_2016,
	title = {Mutations in eight small {DFNB} genes are not a frequent cause of non-syndromic hereditary hearing loss in {Czech} patients},
	volume = {86},
	issn = {1872-8464},
	doi = {10.1016/j.ijporl.2016.04.005},
	abstract = {OBJECTIVES: To evaluate the contribution of eight small NSHL-AR (non-syndromic deafness, autosomal recessive) genes to hereditary hearing loss in Czech patients.
PATIENTS AND METHODS: Unrelated Czech patients, adults and children, diagnosed with pre-lingual hereditary hearing loss with at least one similarly affected deaf sibling and with previously excluded mutations in the GJB2 gene were investigated by Sanger sequencing of the selected eight small NSHL-AR associated genes (CABP2 - 51 patients, CIB2 - 45 patients, PJVK/DFNB59 - 53 patients, GJB3 - 46 patients, ILDR1 - 48 patients, LHFPL5 - 66 patients, LRTOMT - 60 patients, TMIE - 64 patients).
RESULTS: Mutations were detected in the LHFPL5 (DFNB67) gene. The patient is heterozygote for two already described pathogenic variants (p.Tyr127Cys, p.Thr165Met). In five samples, five rare heterozygous variants (two novel) predicted as pathogenic were detected in genes CABP2, ILDR1, LHFPL5 and LRTOMT.
CONCLUSION: Mutations in eight small NSHL-AR genes are not a frequent cause of hereditary hearing loss in the Czech Republic. This diagnostic approach permitted the clarification of HL in only one patient - two heterozygous mutations were detected in LHFPL5 gene for the first time in Central Europe. As the use of panel base MPS certainly improves the diagnostic yield, future studies should rather profit from that diagnostic strategy.},
	language = {eng},
	journal = {International Journal of Pediatric Otorhinolaryngology},
	author = {Marková, Simona and Šafka Brožková, Dana and Mészárosová, Anna and Neupauerová, Jana and Groh, Daniel and Křečková, Gabriela and Laššuthová, Petra and Seeman, Pavel},
	month = jul,
	year = {2016},
	pmid = {27260575},
	keywords = {Alamut, Calcium-Binding Proteins, Child, Czech Republic, DFNB, DFNB67, Female, Genetic Markers, Genetic Predisposition to Disease, Hearing Loss, Sensorineural, Hereditary hearing loss, Heterozygote, Humans, LHFPL5, Male, Membrane Proteins, Mutation, NSHL-AR, Proteins, Receptors, Cell Surface, TMHS},
	pages = {27--33},
}
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