Table 1. Summary of genetic evidence supporting the role of NHE6 and NHE9 in neurodegenerative disorders.
| Gene name | Study type | Nucleotide change | Protein change | Phenotype | Reference |
|---|---|---|---|---|---|
| SLC9A6/NHE6 | Linkage analysis, electron microscopy, histopathological and biochemical investigations | c.1109_1117delGGAGTACCT | P.W370_T372del | Corticobasal degeneration and tau deposition | Garbem et al. (2010) |
| Serial brain MRI, clinical and mutational analysis | c.916C > T | p.Q306X | Progressive degeneration of cortex and cerebellum | Mignot et al. (2013) | |
| Brain MRI, clinical and mutational analysis | c.1560dupT | p.T521YfsX23 | Parkinsonism in female carriers | Riess et al. (2013) a | |
| Clinical and mutational analysis | c.190G > T | p.E64X | Corticobasal degeneration syndrome and parkinsonism in female carriers | Sinajon et al. (2016) | |
| SLC9A9/NHE9 | GWAS | Multiple SNPs | Alzheimer’s disease | Perez-Palma et al. (2014) | |
| GWAS | rs17636071 | Alzheimer’s disease, response to cholinesterase inhibitors | Martinelli-Boneschi et al. (2013) | ||
| GWAS | rs9828519 | Multiple sclerosis, response to inter- feron-ß | Esposito et al. (2015) |
GWAS genome-wide association studies, MRI magnetic resonance imaging, del deletion, dup duplication, fs frameshift, X stop codon, SNPs single nucleotide polymorphisms; Amino acids are represented by their single letter codes in protein (p) sequence
a
Mutation referred in relation to longer NHE6.1 isoform (NP_001036002.1)