A Case Report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

• DOI: 10.21203/rs.2.9239/v2
• Publication Date: 2019-08-13T17:49:13Z
• Authors: Maria Fedorovna S...; Maria A. Parker; Catie Schlechter; Rui Chen; Yumei Li; Richard G. Weleber; Paul Yang; Mark E. Pennesi
• Keywords: Achromatopsia

Abstract Background Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with associated novel biallelic changes ALMS1. Case presentation Two originally as having achromatopsia presented mild light sensitivity, nonspecific otitis media, developmental delay during the first decade of life relatively stable ocular appearance second decade, late onset nystagmus dyschromatopsia (after 20 years) preserved vision third life. One sibling had loss both symmetric high myopia, normal stature, ptosis. Clinical findings revealed structural functional tests consistent cone-rod dystrophy. Novel variants c.9894dupC (p.S3298fs) c.10769delC (p.T3590fs) ALMS1 gene were found. Conclusions North American who phenotype found to have mutations These frame-shift segregated disease lending evidence their pathogenicity.