&lt;b&gt;&lt;i&gt;OPA3&lt;/i&gt;&lt;/b&gt;-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia

Ayrignac, Xavier; Liauzun, C.; Lenaers, Guy; Renard, Dimitri; Amati-Bonneau, P.; Sèze, Jérôme De; Dollfus, Hélène; Hamel, Christian; Bonneau, Dominique; Labauge, Pierre

doi:10.1159/000339310

Cited by 16 publications

(13 citation statements)

References 10 publications

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“…She also has occasional difficulties swallowing and frequent episodes of abdominal pain with alternating constipation and diarrhea. Gastrointestinal symptoms were also reported in a French family with a heterozygous c.313C > G, p.(Gln105Glu) OPA3 mutation (Ayrignac et al 2012). …”

Section: Discussionmentioning

confidence: 85%

“…Normal organic acid profiles are not uncommon in individuals with autosomal dominant OPA3 mutations (Reynier et al 2004). She has pain in her extremities, reduced hearing in her left ear, and gait abnormalities, which are all previously associated with mutations in OPA3 (Ayrignac et al 2012; Sergouniotis et al 2015). She has also experienced rapid weight loss since age 20 and is now in the <5th percentile of weight for her height.…”

Section: Discussionmentioning

confidence: 91%

“…Testing of OPA3 as a candidate gene by an external laboratory on a research basis did not identify any rare variants, so trio-based exome sequencing was performed on blood-derived DNA from the patient and her parents. The sequencing results identified a de novo missense variant (c.235C > G p.[Leu79Val]) in the patient's OPA3 gene (NCBI reference sequence NM_025136.3), a gene known to cause optic atrophy and cataracts (Reynier et al 2004; Ayrignac et al 2012). Sanger confirmation of the variant of interest was carried out using standard polymerase chain reaction (PCR) in the proband and in parental DNA.…”

Section: Resultsmentioning

confidence: 99%

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Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Bourne

Townsend

Shyr

et al. 2016

Cold Spring Harb Mol Case Stud

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Section: Discussionmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 91%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Bourne

Townsend

Shyr

et al. 2016

Cold Spring Harb Mol Case Stud

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“…In a few families with autosomal dominant optic atrophy, heterozygous causative mutations have been identified in the OPA3 gene [45,46]. Biallelic mutations in OPA3 cause type 3 3-methylglutaconic aciduria (Costeff syndrome), a metabolic disorder characterized by early-onset bilateral optic atrophy, spasticity, extrapyramidal signs and cognitive deficit.…”

Section: Opa3-related Optic Atrophy: Optic Atrophymentioning

confidence: 99%

“…Loss of visual acuity in most patients is moderate and slowly progressive. Extraophthalmologic features such as areflexia and ataxia have been reported [46].…”

Section: Opa3-related Optic Atrophy: Optic Atrophymentioning

confidence: 99%

Genetic and phenotypic variability of optic neuropathies

Neuhann

Rautenstrauß

2013

Expert Review of Neurotherapeutics

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Hereditary optic neuropathies comprise a group of clinically and genetically heterogeneous disorders. Two subgroups can be formed: isolated hereditary optic atrophies and optic neuropathy as part of complex disorders. In group 1 of hereditary optic neuropathies, optic nerve dysfunction is typically the only manifestation of the disease. This group comprises autosomal dominant, autosomal recessive and X-linked recessive optic atrophy and the maternally inherited Leber's hereditary optic neuropathy. Among the autosomal-dominant forms of optic atrophy, Kjer's disease is most frequently observed. In the second group of complex disorders, various neurologic and other systemic abnormalities are regularly observed. Most frequent in this group are mtDNA mutations, inherited peripheral neuropathies, Charcot-Marie-Tooth disorders (CMT2A2, CMTX5), hereditary sensory neuropathy type 3 (HSAN3), Friedreich's ataxia, leukodystrophies, sphingolipidoses, ceroid-lipofuscinoses and neurodegeneration with brain iron accumulation. We review current knowledge about the underlying genetic predispositions, the most urgent open questions and how this may affect our management of this heterogeneous group of disorders in the future.

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Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants

Penon‐Portmann,

Naugle,

Brodie

et al. 2024

American J of Med Genetics Pt A

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Heterozygous mutations in the OPA3 gene are associated with autosomal dominant optic atrophy‐3 (OPA3), whereas biallelic mutations cause autosomal recessive 3‐methylglutaconic aciduria type III. To date, all cases with pathogenic variants in the gene OPA3 have presented with optic atrophy. We report a large family with congenital cataracts, hearing loss and neuropathy, with a likely pathogenic novel missense variant in OPA3, c.30G>C; p.(Lys10Asn) that segregates with disease in the family pedigree. The family's clinical presentation has significant phenotypic overlap with previously reported cases of OPA3, except for a notable lack of optic atrophy. The analysis of all known disease‐associated variants in OPA3 revealed an enrichment in missense variants in patients with OPA3 phenotype compared with loss‐of‐function variants, which are more likely to be observed in individuals with 3‐methylglutaconic aciduria type III, supporting different mechanisms of disease. This case broadens the clinical and genetic spectrum associated with OPA3 mutations and highlights that optic atrophy is not an obligate feature of OPA3‐related disorders.

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<b><i>OPA3</i></b>-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia

Cited by 16 publications

References 10 publications

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation

Genetic and phenotypic variability of optic neuropathies

Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants

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