Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing

Background We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA or Kjer type optic atrophy). Mutations in OPA1 encoding a mitochondrial inner membrane protein are a major cause of ADOA. Methods We analyzed...

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Vydané v:	BMC medical genetics Ročník 18; číslo 1; s. 22
Hlavní autori:	Bolognini, Ramona, Gerth-Kahlert, Christina, Abegg, Mathias, Bartholdi, Deborah, Mathis, Nicolas, Sturm, Veit, Gallati, Sabina, Schaller, André
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	London BioMed Central 28.02.2017
Predmet:	Atrophy Base Sequence Biomedical and Life Sciences Biomedicine Blindness Clinical-Molecular Genetics and Cytogenetics Cytogenetics DNA - chemistry DNA - isolation & purification DNA - metabolism DNA Mutational Analysis Exons Families & family life Gene Function Genetic testing GTP Phosphohydrolases - genetics Heterozygote Human Genetics Humans INDEL Mutation Introns Mitochondrial DNA Mutation Optic Atrophy, Autosomal Dominant - genetics Optics Parents & parenting Patients Pedigree Proteins Research Article Retina - diagnostic imaging RNA Precursors - genetics RNA Precursors - metabolism RNA Splicing Tomography Tomography, Optical Coherence Visual acuity Visual impairment Optic neuropathies Splice site mutation Autosomal dominant optic atrophy OPA1 Kjer type optic atrophy
ISSN:	1471-2350, 1471-2350
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