Table 1.
Summary of the mutations identified in this study.
| Mutations | Bioinformatics prediction | Population frequency | ACMG | References | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Gene | Refseq NM | Nucleotide | Amino acid | Polyphen2 | SIFT | ESP6500 | GnomAD | ExAC | ||
| AARS2 | NM_020745.4 | c.452T>C | p.M151T | Probably damaging | Deleterious | 0 | 0 | 0 | Likely pathogenic | [13] |
| AARS2 | NM_020745.4 | c.2146‐2A>G | NA | NA | NA | 0 | 0.000014 | 0 | Pathogenic | This study |
| ABCD1 | NM_000033.4 | c.1661G>A | p.R554H | Deleterious | Deleterious | 0 | 0 | 0 | Pathogenic | [14] |
| ABCD1 | NM_000033.4 | c.445_449del | p.S149Hfs*44 | NA | NA | 0 | 0 | 0 | VUS | This study |
| CSF1R | NM_005211.3 |
c.2909_291 0insATCA |
p.F971Sfs*7 | NA | NA | 0 | 0.000040 | 0.000068 | VUS | [15] |
| CSF1R | NM_005211.3 | c.2625G>A | p.M875I | Probably damaging | Deleterious | 0 | 0 | 0 | Likely pathogenic | [16] |
| GALC | NM_000153.4 | c.658C>T | p.R220* | NA | NA | 0 | 0 | 0.000008 | Pathogenic | [17] |
| GALC | NM_000153.4 | c.767G>C | p.G256A | Possibly damaging | Tolerated | 0 | 0 | 0 | Likely pathogenic | This study |
ACMG, American College of Medical Genetics; ESP6500, Exome Sequencing Project v.6500; ExAC, Exome Aggregation Consortium; GnomAD, Genome Aggregation Database; NA, not applicable; SIFT, Sorting Intolerant From Tolerant; VUS, variants of uncertain significance.