TABLE 1.
Summary of pathogenic PLPBP variants described to date in 33 patients/30 families
| Reference | Variant type | Position | cDNA level a | Amino acid change | Number of patients | Number of families | ||
|---|---|---|---|---|---|---|---|---|
| Homo | Comp Het | Homo | Comp Het | |||||
| Jiao et al 12 | Nonsense | Exon1 | c.45C>A | p.Cys15Ter | 1 | 1 | ||
| Plecko et al, 5 Jiao et al 12 | Missense | Exon 1 | c.119C>T | p.(Pro40Leu) | 2 | 2 | ||
| Jensen et al 11 | Missense | Exon1 | c.121C>T | p.(Arg41Trp) | 1 | 1 | ||
| Shiraku et al, 9 Johnstone et al 8 | Missense | Exon 2 | c.122G>A | p.(Arg41Gln) | 3 | 1 | 3 | 1 |
| Shiraku et al, 9 Johnstone et al 8 | Missense | Exon 2 | c.199G>A | p.(Glu67Lys) | 4 | 4 | ||
| Plecko et al 5 | Missense | Exon 2 | c.206A>G | p.(Tyr69Cys) | 1 | 1 | ||
| Darin et al, 4 Jensen et al 11 | Splice site | Intron 2 | c.207+1G>A | Splicing effect | 1 | 1 | 1 | 1 |
| Jiao et al, 12 this study | Splice site | Intron 2 | c.207+1G>T | Splicing effect | 2 | 2 | ||
| Darin et al 4 | Nonsense | Exon 3 | c.211C>T | p.(Gln71Ter) | 1 | 1 | ||
| Darin et al 4 | Nonsense | Exon 3 | c.233C>G | p.(Ser78Ter) | 3 | 1 | ||
| Plecko et al 5 | Frameshift | Exon 4 | c.249‐252del | p.(Ser84Cysfs*21) | 1 | 1 | ||
| Darin et al, 4 Plecko et al 5 | Missense | Exon 4 | c.260C>T | p.(Pro87Leu) | 1 | 1 | 1 | 1 |
| Johnstone et al 8 | Missense | Exon4 | c.280A>T | p.(Ile94Phe) | 1 | 1 | ||
| Jiao et al 12 | Missense | Exon4 | c.338T>C | p.(Met113Thr) | 1 | 1 | ||
| Johnstone et al 8 | Missense | Exon4 | c.347C>T | p.(Thr116Ile) | 2 | 2 | ||
| Johnstone et al, 8 Kernohan et al 10 | Frameshift | Exon4 | c.370‐373del | p.(Asp124Lysfs*2) | 3 | 3 | ||
| Darin et al, 4 Johnstone et al 8 | Splice site | Intron 4 | c.320‐2A>G | Splicing effect | 2 | 2 | ||
| Darin et al 4 | Missense | Exon 6 | c.524T>C | p.(Leu175Pro) | 1 | 1 | ||
| Plecko et al, 5 Shiraku et al 9 | Missense | Exon8 | c.614G>A | p.(Arg205Gln) | 1 | 1 | 1 | 1 |
| Johnstone et al 8 | Missense | Exon 8 | c.671G>C | p.(Gly224Ala) | 1 | 1 | ||
| Darin et al, 4 Plecko et al, 5 this study | Missense | Exon 8 | c.722G>A | p.(Arg241Gln) | 3 | 3 | ||
| Johnstone et al 8 | Missense | Exon 8 | c.823C>G | p.(His275Asp) | 1 | 1 | ||
Abbreviations: Comp Het, compound heterozygous; Homo, homozygous; PLPBP, PLP‐binding protein.
a
According to RefSeq accession number NM_007198.3. Nucleotide numbering uses +1 as the A of the ATG translation initiation codon in the mRNA reference sequence, with the initiation codon as codon 1.