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4/2018
vol. 120 abstract:
Original paper
Next-generation sequencing reveals three novel variants in Polish patients with Usher syndrome
Anna Wawrocka
1
,
Joanna Walczak-Sztulpa
1
,
Anna Skorczyk-Werner
1
,
Łukasz Kuszel
1
,
Magdalena Socha
1
,
Aleksander Jamsheer
1, 2
,
Maciej R. Krawczynski
1, 2
Online publish date: 2019/02/27
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Aim
Usher syndrome is an autosomal recessive disorder which manifests as sensorineural hearing impairment with retinitis pigmentosa and, in some cases, also vestibular dysfunction. Material and methods We studied the molecular basis of the disease in seven unrelated Polish patients with Usher syndrome. Patients underwent audiologic and ophthalmic examination. Next-generation sequencing on the diagnostic panel for Usher syndrome was performed in all patients. Results Next-generation sequencing enabled identification of mutations on both alleles in five patients (71.4%). We describe three novel potentially pathogenic variants: c.14219G>T (p.(Gly4740Val)) in the GPR98 gene, c.5206_5207insC (p.(Lys1737Glnfs*28)) in the MYO7A gene and c.11780A>G (p.(Asp3927Gly)) in the USH2A gene. In one patient, we identified two variants in two different genes: GPR98 and USH2A. Conclusions Our results expand the mutational spectrum associated with Usher syndrome by a description of three novel likely pathogenic alterations and support the use of targeted next-generation sequencing in genetic diagnosis of patients with this syndrome. keywords:
Usher syndrome, next generation sequencing, USH2A, GPR98, MYO7A genes |
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POLSKI
