| Autor: |
Maria F. Shurygina, Maria A. Parker, Catie L. Schlechter, Rui Chen, Yumei Li, Richard G. Weleber, Paul Yang, Mark E. Pennesi |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
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| Zdroj: |
BMC Ophthalmology, Vol 19, Iss 1, Pp 1-9 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
1471-2415 |
| DOI: |
10.1186/s12886-019-1259-y |
| Popis: |
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 Alström syndrome associated with two novel changes in ALMS1. Case presentation Two siblings originally diagnosed as having achromatopsia presented with mild light sensitivity, nonspecific otitis media, and mild developmental delay during the first decade of life with a relatively stable ocular appearance during second decade, late onset of nystagmus and dyschromatopsia (after 20 years) and preserved vision during the third decade of life. One sibling had late onset hearing loss and both siblings had symmetric high myopia, normal stature, and ptosis. Clinical findings revealed structural and functional tests consistent with a cone-rod dystrophy. Novel variants c.9894dupC (p.S3298 fs) and c.10769delC (p.T3590 fs) in ALMS1 gene were found. Conclusions Two North American siblings who presented with a mild clinical phenotype of Alström syndrome were found to have novel mutations in ALMS1. These two frame-shift mutations segregated with the disease phenotype lending evidence to their pathogenicity. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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