Article

Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic Counseling

2023-03-15

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes or photoreceptors degeneration. OPA13 is caused by heterozygous mutation in the <italic>SSBP1</italic> gene, associated with variable mitochondrial dysfun...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 731ad22a-6ff2-515b-bed5-ea7cf6368002
DOI: 10.21203/rs.3.rs-2554402/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Maternal Mosaicism in SSBP1 Causing Optic Atrophy with Retinal Degeneration: Implications for Genetic CounselingDOI 10.21203/rs.3.rs-2554402/v1Read

Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling.Semantic proximity Read

Expanding the Phenotype of Syndromic SLC30A9 -Associated Disease.Semantic proximity Read

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.Semantic proximity Read

The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.Semantic proximity Read

Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.Semantic proximity Read

A novel phenotype associated with the R162W variant in the KCNJ13 gene.Semantic proximity Read

Wolfram Syndrome: Case series and review of the literatureSemantic proximity Read

Total Retinal Detachment Combined with a Novel Nonsense Mutation in the COL2A1 Gene: A Case ReportSemantic proximity Read

OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion.Semantic proximity Read

Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) geneSemantic proximity Read

Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.Semantic proximity Read

Heterozygous missense <i>RAD21</i> variant in a peripheral sclerocornea pedigreeSemantic proximity Read