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Here, we investigated a six-generation family, where multiple individuals presented with gliosis of the optic nerve head and visual impairment. Whole genome sequencing (WGS) revealed a frameshift variant in GFAP (c.928dup, p.(Met310Asnfs*113)) segregating with disease. Analysis of human embryonic tissues revealed strong expression of GFAP in retinal neural progenitors. A zebrafish model verified that c.928dup does not result in extensive GFAP protein aggregation and zebrafish gfap loss-of-function mutants showed vision impairment and retinal dysplasia, characterized by a significant loss of M\u00fcller glia cells and photoreceptor cells. Our findings show how different mutational mechanisms can cause diverging phenotypes and reveal a novel function of GFAP in vertebrate eye development.<\/jats:p>","DOI":"10.1093\/hmg\/ddae134","type":"journal-article","created":{"date-parts":[[2024,10,29]],"date-time":"2024-10-29T20:31:39Z","timestamp":1730233899000},"page":"2145-2158","source":"Crossref","is-referenced-by-count":2,"title":["A novel <i>GFAP<\/i> frameshift variant identified in a family with optico-retinal dysplasia and vision impairment"],"prefix":"10.1093","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4341-9787","authenticated-orcid":false,"given":"Menachem V K","family":"Sarusie","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics , Kennedy Center, Rigshospitalet, , Gamle Landevej 7, 2600 Glostrup ,","place":["Denmark"]},{"name":"University of Copenhagen , Kennedy Center, Rigshospitalet, , Gamle Landevej 7, 2600 Glostrup ,","place":["Denmark"]},{"name":"Department of Cellular and Molecular Medicine, University of Copenhagen , Blegdamsvej 3B, 2200 Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"R\u00f6nnb\u00e4ck","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology , Rigshospitalet-Glostrup, , Valdemar Hansens Vej 13, 2600 Glostrup ,","place":["Denmark"]},{"name":"University of Copenhagen , Rigshospitalet-Glostrup, , Valdemar Hansens Vej 13, 2600 Glostrup ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathrine","family":"Jespersgaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Kennedy Center, Rigshospitalet, , Gamle Landevej 7, 2600 Glostrup ,","place":["Denmark"]},{"name":"University of Copenhagen , Kennedy Center, Rigshospitalet, , Gamle Landevej 7, 2600 Glostrup ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sif","family":"Baungaard","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine, University of Copenhagen , Blegdamsvej 3B, 2200 Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yeasmeen","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Copenhagen , Ole Maal\u00f8es Vej 5, 2200 Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Line","family":"Kessel","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology , Rigshospitalet-Glostrup, , Valdemar Hansens Vej 13, 2600 Glostrup ,","place":["Denmark"]},{"name":"University of Copenhagen , Rigshospitalet-Glostrup, , Valdemar Hansens Vej 13, 2600 Glostrup ,","place":["Denmark"]},{"name":"Department of Clinical Medicine, University of Copenhagen , Blegdamsvej 3B, 2200, Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00f8ren T","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Biology, University of Copenhagen , Ole Maal\u00f8es Vej 5, 2200 Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Br\u00f8ndum-Nielsen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Kennedy Center, Rigshospitalet, , Gamle Landevej 7, 2600 Glostrup ,","place":["Denmark"]},{"name":"University of Copenhagen , Kennedy Center, Rigshospitalet, , Gamle Landevej 7, 2600 Glostrup ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kjeld","family":"M\u00f8llg\u00e5rd","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine, University of Copenhagen , Blegdamsvej 3B, 2200 Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology , Rigshospitalet-Glostrup, , Valdemar Hansens Vej 13, 2600 Glostrup ,","place":["Denmark"]},{"name":"University of Copenhagen , Rigshospitalet-Glostrup, , Valdemar Hansens Vej 13, 2600 Glostrup ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars A","family":"Larsen","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Medicine, University of Copenhagen , Blegdamsvej 3B, 2200 Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Gr\u00f8nskov","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics , Kennedy Center, Rigshospitalet, , Gamle Landevej 7, 2600 Glostrup ,","place":["Denmark"]},{"name":"University of Copenhagen , Kennedy Center, 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