Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report.
Angelica BiancoLuigi BiscegliaMaria Fara De CaroValeria GaleandroPatrizia De BonisApollonia TulloStefano ZoccolellaSilvana GuerrieroVittoria PetruzzellaPublished in: BMC medical genetics (2018)
This is the first case reporting the co-segregation of a mutation in MTRNR1 gene with a LHON primary mutation, which may be a risk factor of the extraocular signs complicating LHON phenotype. In addition, the data herein reported, confirmed that the key factor modulating the penetrance of optic atrophy in the family is the amount of mtDNA.
Keyphrases
- intellectual disability
- case report
- copy number
- autism spectrum disorder
- genome wide
- risk factors
- mitochondrial dna
- genome wide identification
- signaling pathway
- optical coherence tomography
- electronic health record
- big data
- machine learning
- emergency department
- transcription factor
- adverse drug
- deep learning
- data analysis
- optic nerve