IsCHCHD10Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?: Figure 1

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients

“…Since the variant c.100C>T p.P34S did not segregate with the disease in this family, it is not likely to be disease causing. This is also supported by the reports of Zhang et al 15 and Dobson-Stone et al 16 who showed that c.100C>T p.P34S is present in a normal population with a considerable frequency.…”

“…Further evidence is required, however, because most variants at the 5′ end of CHCHD10 exon 2 are not included in variant databases due to low coverage of that area in exome sequences 16. As the quality and number of exome sequences increase, it is probable that many of the reported CHCHD10 variants appear to have some kind of frequency in a normal population making their pathogenic role more unlikely.…”

Genetic analysis of CHCHD10 in French familial amyotrophic lateral sclerosis patients

“…CHCHD10 gene encodes a coiled-coil helix coiled-coil helix protein involved in the maintenance of mitochondrial organization, which is crucial for the function of neurons. Indeed, mutations in CHCHD10 have been identified in broad neurological diseases affecting peripheral or central nervous system neurons including axonal Charcot-Marie-Tooth Type 2 (Pasanen, et al, 2015), late-onset spinal motor neuronopathy (Penttila, et al, 2015), early-onset dementia (Dobson-Stone, et al, 2015), Parkinson's and Alzheimer's diseases (Zhang, et al, 2015).…”

“…Several studies have documented the identification of CHCHD10 mutations in FTD/ALS Dobson-Stone, et al, 2015;Dols-Icardo, et al, 2015), FTD (Dols-Icardo, et al, 2015;Zhang, et al, 2015), or pure ALS patients (Abdelkarim, et al, 2015;Chio, et al, 2015;Dols-Icardo, et al, 2015;Johnson, et al, 2014;Kurzwelly, et al, 2015;Muller, et al, 2014;Ronchi, et al, 2015;Zhang, et al, 2015). In contrast, other studies did not find any pathogenic variant in ALS patients despite frequent mutations being identified in pure FTD patients from the same geographic area (Jiao, et al, 2015; Marroquin, et al, 2015;Wong, et al, 2015).…”

CHCHD10 variants in amyotrophic lateral sclerosis: Where is the evidence?

“…a In a pedigree with FTD. 24 b Allele counts were not provided in all reports. 27 pathogenicity of this variant in pure ALS ± FTD, our data add to the increasing evidence that the p.Pro34Ser mutation in CHCHD10 is probably not pathogenic.…”