RGD Reference Report - Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene. - Rat Genome Database

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Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.

Authors: Childs, AM  Hutchin, T  Pysden, K  Highet, L  Bamford, J  Livingston, J  Crow, YJ 
Citation: Childs AM, etal., Neuropediatrics. 2007 Dec;38(6):313-6.
RGD ID: 5490262
Pubmed: (View Article at PubMed) PMID:18461509
DOI: Full-text: DOI:10.1055/s-2008-1065355

We describe 15 members of a Caucasian family with an apparently homoplasmic T-->C mutation at nucleotide position 9185 (9185T>C) in the mtDNA encoded MTATP6 (ATPase 6) gene. The clinical phenotype is extremely variable and includes late-onset Leigh syndrome (LS), isolated demyelinating peripheral neuropathy and neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP). Following recent reports of this same mutation in a single case and in a family with late-onset LS and NARP-like features, our paper emphasises the role of MTATP6 in LS and expands the associated clinical phenotype further.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Mt-atp6  (mitochondrially encoded ATP synthase membrane subunit 6)

Genes (Mus musculus)
mt-Atp6  (ATP synthase 6, mitochondrial)

Genes (Homo sapiens)
MT-ATP6  (mitochondrially encoded ATP synthase membrane subunit 6)


Additional Information