Cataract in You-Hoover-Fong syndrome: TELO2 deficiency
| Autor: | Del-Prado-Sánchez C, Armstrong-Moron J, Veiga C, Grixolli-Mazzon S, Garcia-Cazorla A, Julià-Palacios NA, Morales-Ballús M |
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| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | OPHTHALMIC GENETICS r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu |
| ISSN: | 1381-6810 |
| Popis: | INTRODUCTION: Recently, You, Hoover-Fong, and colleagues described a disease caused by a deficiency of the telomere maintenance 2 gene (TELO2) function. The clinical spectrum includes early-onset global delay, dysmorphic facial features, auditory disorder, and reduced vision. MATERIALS AND METHODS: We report two siblings, diagnosed with You-Hoover-Fong syndrome at the age of 28 and 14 months. Both were genetically studied to find the cause of their developmental delay and microcephaly. RESULTS: The identical compound heterozygous missense mutations in the TELO2gene were found in each. Ophthalmologically, both siblings were diagnosed with progressive congenital bilateral nuclear-lamellar cataracts. CONCLUSIONS: We report nuclear-lamellar cataracts in two siblings diagnosed with You-Hoover-Fong syndrome. |
| Databáze: | OpenAIRE |
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