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ISSN 2070-8718 (Print)

2018, Number 2

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Rev Cub Gen 2018; 12 (2)

New mutation in GPR98 in Holguin family with Usher Syndrome type II

Santana HEE, Lantigua CPA, Millán SJM

Language: Spanish
References: 19
Page: 1-14
PDF size: 212.07 Kb.


ABSTRACT

Introduction: Usher type II syndrome, a genetic disease characterized by moderate to severe congenital bilateral sensorineural hearing loss, onset of postpubertal pigmentary retinitis and normal vestibular function. With autosomal recessive transmission pattern, it presents with great clinical and genetic heterogeneity. Type II is the most common in all regions.
Objectives: to characterize molecularly the patients of a family with clinical diagnosis of syndrome Usher type II, in the province of Holguín.
Methods: We performed a molecular study using a panel of new generation sequencing genes, which includes all the coding regions of the 11 genes responsible for Usher's syndrome described to date. The presence of mutations detected by this technology was confirmed by direct sequencing by the Sanger method.
Results: the presence of a mutation in homozygosis in the GPR98 gene (NM_032119.3): c.15446_15447delCT (exon 74) not previously described was detected after the analysis. In addition, the c.3242 G> A mutation was found in exon 28 of the CDH23 gene (exon 28) in heterozygosity. According to the Polyphen program this change is probably pathological so it could be modifying the phenotype caused by the mutations in GPR98.
Conclusions: new mutation is known in GPR98 not previously described and another in CDH23 showing genetic variability. This research will help design similar studies in order to molecularly characterize this disease in Cuban families, which will benefit prevention and facilitate proper genetic counseling.


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