Article
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.
Human genetics - 1 Mar 2023
Jarayseh Tamara, Guillemyn Brecht, De Saffel Hanna, Bek Jan Willem, Syx Delfien, Symoens Sofie, Gansemans Yannick, Van Nieuwerburgh Filip, Jagadeesh Sujatha, Raja Jayarekha, Malfait Fransiska, Coucke Paul J, De Clercq Adelbert, Willaert Andy
Abstract excerpt
Bi-allelic mutations in the gene coding for human trans-membrane anterior-posterior transformation protein 1 (TAPT1) result in a broad phenotypic spectrum, ranging from syndromic disease with severe skeletal and congenital abnormalities to isolated early-onset cataract. We present here the first patient with a frameshift mutation in the TAPT1 gene, resulting in both bilateral early-onset cataract and skeletal...
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