Ophthalmic genetics · 2020
Cataract in You-Hoover-Fong syndrome: TELO2 deficiency.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Del-Prado-Sánchez Cristina, Armstrong-Moron Judith, Veiga Carla, Grixolli-Mazzon Stefano, García-Cazorla Àngels, Juliá-Palacios Natalia, Morales-Ballús Marta
Аннотация
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.
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.