Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report

BMC Ophthalmology

Chloe M. Stanton¹  Benjamin J. Livesey¹  Joseph A. Marsh¹  Su Ling Young²  Peter D. Cackett² 

[1] Medical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh;Princess Alexandra Eye Pavilion, NHS Lothian;

关键词: Usher syndrome type IIA;    Novel mutation;    Pathogenicity;    USH2A;    Inherited retinal disease;    Case report;   

DOI  :  10.1186/s12886-022-02353-7

来源: DOAJ

【 摘 要 】

Abstract Background Usher Syndrome is the commonest cause of inherited blindness and deafness. The condition is clinically and genetically heterogeneous, with no current treatment. We report a case carrying novel biallelic variants in USH2A causing progressive early adolescent onset visual and hearing impairment consistent with Usher Syndrome Type IIA. Case presentation Our patient presented at age 13 with progressive visual field loss and hearing loss, associated with early onset of cataract in her 40s requiring lens extraction. Now 52 years old, latest best corrected visual acuity (BCVA) stands at Logmar Right Eye (RE) 0.8 and Left Eye (LE) 0.2, with significantly constricted visual fields bilaterally. She was registered partially sighted age 46. Clinical and molecular genetic assessment of the proband was consistent with a diagnosis of Usher Syndrome Type IIA. Genetic testing identified two novel USH2A variants, resulting in the premature termination codon p.Leu30Ter and a missense mutation p.Cys3251Tyr. Segregation analysis confirmed that these variants were biallelic in the affected case. Comprehensive in silico analysis confirmed that these mutations are the probable cause of Usher Syndrome Type IIA in this individual. Conclusions The identification of novel mutations in USH2A increases the spectrum of genetic variations that lead to Usher Syndrome, aiding genetic diagnosis, assessment of patient prognosis, and emphasising the importance of genetic testing to identify new mutations in patients with undiagnosed progressive visual loss.

【 授权许可】

Unknown