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Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment by Benjamin M. Nash; Christopher J. G. Watson; Edward Hughes; Alec L. Hou; To Ha Loi; Bruce Bennetts; Diana Jelovic; Philip J. Polkinghorne; Mark Gorbatov; John R. Grigg; Andrea L. Vincent; Robyn V. Jamieson is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment about?
The COL9A3 gene encodes one of the three alpha chains of Type IX collagen, with heterozygous variants reported to cause multiple epiphyseal dysplasia, and suggested as contributory in some cases of sensorineural hearing loss. Patients with homozygous variants have midface hypoplasia, myopia, sensorineural hearing loss, epiphyseal changes and carry a diagnosis of Stickler syndrome. Variants in COL9A3 have not previously been reported to cause vitreoretinal degeneration and/or retinal detachments. This report describes two families with autosomal dominant inheritance and predominant features of peripheral vitreoretinal lattice degeneration and retinal detachment. Genomic sequencing revealed a heterozygous splice variant in COL9A3 [NG\_016353.1(NM\_001853.4):c.1107 + 1G>C, NC\_000020.10(NM\_001853.4):c.1107 + 1G>C, LRG1253t1] in Family 1, and a heterozygous missense variant [NG\_016353.1(NM\_001853.4):c.388G>A p.(Gly130Ser)] in Family 2, each segregating with disease. cDNA studies of the splice variant demonstrated an in-frame deletion in the COL2 domain, and the missense variant occurred in the COL3 domain, both indicating the critical role of Type IX collagen in the vitreous base of
Who reads Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Benjamin M. Nash; Christopher J. G. Watson; Edward Hughes; Alec L. Hou; To Ha Loi; Bruce Bennetts; Diana Jelovic; Philip J. Polkinghorne; Mark Gorbatov; John R. Grigg; Andrea L. Vincent; Robyn V. Jamieson
- Publisher
- Springer Science and Business Media LLC
- Published
- 2021
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)