PMC:3905285 / 15487-16638
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/3905285","sourcedb":"PMC","sourceid":"3905285","source_url":"http://www.ncbi.nlm.nih.gov/pmc/3905285","text":"Molecular investigations\nTo identify the causative gene mutation, we first excluded the genes PDHA1, PDHB, PDHX, DLAT, DLD[1], LIAS (GenBank NG_032111.1), BOLA3 (GenBank NG_031910) and NFU1 (GenBank NG_031931.1) by direct sequencing using DNA extracted from white blood cells. Subsequently, exome capture was performed and resulted in a list of 25 candidate genes, including a mitochondrial protein, LIPT1 (MIM 610284). The compound heterozygous c.875C \u003e G and c.535A \u003e G transitions in LIPT1 gene (NP_660200.1) on chromosome 2 resulted in a stop mutation (p.Ser292X) and the substitution of a threonine by an alanine (p.Thr179Ala) in the protein, respectively. Sanger sequencing confirmed these mutations in the affected individual and showed that the parents were heterozygous for either mutation. These changes were predicted to be “damaging” and “deleterious” by Polyphen and SIFT softwares, respectively, and were located in a highly conserved domain of the protein. In addition, these mutations were not found in 100 controls of French origin or in exome sequencing projects including at least 13 000 alleles [http://evs.gs.washington.edu/EVS/].","divisions":[{"label":"Title","span":{"begin":0,"end":24}}],"tracks":[{"project":"NEUROSES","denotations":[{"id":"T877","span":{"begin":239,"end":242},"obj":"CHEBI_16991"},{"id":"T878","span":{"begin":258,"end":263},"obj":"PATO_0000323"},{"id":"T879","span":{"begin":391,"end":398},"obj":"CHEBI_36080"},{"id":"T880","span":{"begin":639,"end":646},"obj":"CHEBI_36080"},{"id":"T881","span":{"begin":963,"end":970},"obj":"CHEBI_36080"},{"id":"T882","span":{"begin":391,"end":398},"obj":"CHEBI_16541"},{"id":"T883","span":{"begin":639,"end":646},"obj":"CHEBI_16541"},{"id":"T884","span":{"begin":963,"end":970},"obj":"CHEBI_16541"},{"id":"T885","span":{"begin":594,"end":603},"obj":"CHEBI_16857"},{"id":"T886","span":{"begin":594,"end":603},"obj":"CHEBI_26986"},{"id":"T887","span":{"begin":610,"end":617},"obj":"CHEBI_46217"},{"id":"T888","span":{"begin":610,"end":617},"obj":"CHEBI_16449"},{"id":"T889","span":{"begin":610,"end":617},"obj":"CHEBI_16977"}],"attributes":[{"subj":"T877","pred":"source","obj":"NEUROSES"},{"subj":"T878","pred":"source","obj":"NEUROSES"},{"subj":"T879","pred":"source","obj":"NEUROSES"},{"subj":"T880","pred":"source","obj":"NEUROSES"},{"subj":"T881","pred":"source","obj":"NEUROSES"},{"subj":"T882","pred":"source","obj":"NEUROSES"},{"subj":"T883","pred":"source","obj":"NEUROSES"},{"subj":"T884","pred":"source","obj":"NEUROSES"},{"subj":"T885","pred":"source","obj":"NEUROSES"},{"subj":"T886","pred":"source","obj":"NEUROSES"},{"subj":"T887","pred":"source","obj":"NEUROSES"},{"subj":"T888","pred":"source","obj":"NEUROSES"},{"subj":"T889","pred":"source","obj":"NEUROSES"}]},{"project":"2_test","denotations":[{"id":"24341803-21914562-81583053","span":{"begin":123,"end":124},"obj":"21914562"},{"id":"T50658","span":{"begin":123,"end":124},"obj":"21914562"}],"attributes":[{"subj":"24341803-21914562-81583053","pred":"source","obj":"2_test"},{"subj":"T50658","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"NEUROSES","color":"#93a6ec","default":true},{"id":"2_test","color":"#c0ec93"}]}]}}