Aggressive Posterior Retinopathy of Prematurity and a
            <i>TUBA1A</i>
            Mutation inde Morsier Syndrome

Reyes-Capó, Daniela P.; Chen, Felix; Wilson, Benjamin; Tarshish, Brocha; Ventura, Camila V.; Read, Sarah P.; Negron, Catherin I.; Berrocal, Audina M.

doi:10.3928/23258160-20180803-12

Cited by 3 publications

(2 citation statements)

References 15 publications

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“…Structural grading of foveal morphology was performed according to Thomas et al (30). The other family members exhibited normal OCT findings of the optic nerve and macular region ( (8,10,14,16,17,26,(31)(32)(33)(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44)(45)(46) and/or FVH (40,(47)(48)(49)(50)(51).…”

Section: Severe Bilateral Optic Nerve Hypoplasia and Foveal Hypoplasimentioning

confidence: 99%

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia

Atac

Koller

Hanson

et al. 2019

Human Molecular Genetics

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Optic nerve hypoplasia (ONH) is a congenital optic nerve abnormality caused by underdevelopment of retinal ganglion cells (RGCs). Despite being a rare disease, ONH is the most common optic disc anomaly in ophthalmological practice. So far, mutations in several genes have been identified as causative, however many cases of ONH remain without a molecular explanation. The early transcription factor atonal basic-helix-loop-helix (bHLH) transcription factor 7 (ATOH7) is expressed in retinal progenitor cells and has a crucial role in RGC development. Previous studies have identified several mutations in the ATOH7 locus in cases of eye developmental diseases such as nonsyndromic congenital retinal nonattachment and persistent hyperplasia of the primary vitreous. Here we present two siblings with a phenotype predominated by bilateral ONH, with additional features of foveal hypoplasia and distinct vascular abnormalities, where whole-exome sequencing identified two compound heterozygous missense mutations affecting a conserved amino acid residue within the bHLH domain of ATOH7 (NM_145178.3:c.175G>A; p.(Ala59Thr) and c.176C>T; p.(Ala59Val)). ATOH7 expression constructs with patient single nucleotide variants were cloned for functional characterization. Protein analyses revealed decreased protein amounts and significantly enhanced degradation in the presence of E47, a putative bHLH dimerization partner. Protein interaction assays revealed decreased heterodimerization and DNA-binding of ATOH7 variants, resulting in total loss of transcriptional activation of luciferase reporter gene expression. These findings strongly support pathogenicity of the two ATOH7 mutations, one of which is novel. Additionally, this report highlights the possible impact of altered ATOH7 dimerization on protein stability and function.

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Section: Severe Bilateral Optic Nerve Hypoplasia and Foveal Hypoplasimentioning

confidence: 99%

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia

Atac

Koller

Hanson

et al. 2019

Human Molecular Genetics

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“…Persistence of neovascular growth leads to formation of retinal scarring and fibrosis, which then precipitates tractional retinal detachment and loss of vision (268,269). Glaucoma is a notable consequence of ROP (269,270) and ROP has been associated with features ONH (271), while ONH itself has been found to potentiate ROP (272). Polymorphisms of the genes LRP5, FZD4, TSPAN12 and NDP (Norrie disease protein) have been found concomitantly with ROP (273).…”

Section: 102(d) Retinopathy Of Prematuritymentioning

confidence: 99%

The Impact of Optic Nerve Disorders on Sleep Wake

Stevenson

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Peripheral Retinal Nonperfusion in Pediatric Patients with Optic Disc Hypoplasia

Cruz¹,

Sengillo²,

Fan³

et al. 2023

American Journal of Ophthalmology

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Aggressive Posterior Retinopathy of Prematurity and a TUBA1A Mutation inde Morsier Syndrome

Cited by 3 publications

References 15 publications

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia

Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia

The Impact of Optic Nerve Disorders on Sleep Wake

Peripheral Retinal Nonperfusion in Pediatric Patients with Optic Disc Hypoplasia

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