TableĀ 1

Mutations identified in patients with hypomyelinating leukodystrophies

PatientsNucleotide changeAmino acid changeLocation
POLR3A (NM_007055.3)
P1c.[496G>A];[496G>A]*p.[Val166Ile];[Val166Ile]*Exon 5*
P2c.[2011T>C];[2011T>C]p.[Trp671Arg];[Trp671Arg]Exon 15
P3c.[2011T>C];[2011T>C]p.[Trp671Arg];[Trp671Arg]Exon 15
P4c.[1741insA];[=]p.[Lys581Serfs*28];[=]Exon 13
c.[1804A>C];[=]p.[Ser602Arg];[=]Exon 14
P5c.[3781G>A];[=]p.[Glu1261Lys];[=]Exon 29
c.[1160C>G];[=]p.[Ala387Gly];[=]Exon 8
P6c.[2554A>G];[=]p.[Met852Val];[=]Exon 19
c.[1302insA];[=]p.[Tyr434*];[=]Exon 10
P7c.[272C>T];[=]p.[Pro91Leu];[=]Exon 3
c.[3013C>T];[=]p.[Arg1005Cys];[=]Exon 23
POLR3B (NM_018082)
P8c.[1568T>A];[=]p.[Val523Glu];[=]Exon 15
c.[2084-6A>G];[=]p.[Gly695Valfs*5];[=]Intron 19
P9c.[1568T>A];[=]p.[Val523Glu];[=]Exon 15
c.[2084-6A>G];[=]p.[Gly695Valfs*5];[=]Intron 19
P10c.[1568T>A];[=]p.[Val523Glu];[=]Exon 15
c.[1579T>C];[=]p.[Cys527Arg];[=]Exon 15
P11c.[1568T>A];[=]p.[Val523Glu];[=]Exon 15
c.[2817+30T>A];[=]p.[?];[=]Intron 24
P12c.[1324C>T];[=]p.[Arg442Cys];[=]Exon 14
c.[1568T>A];[=]p.[Val523Glu];[=]Exon 15
P13c.[312G>T];[=]p.[Leu104Phe];[=]Exon 6
c.[2570+1G>A];[=]p.[Gly818Alafs*13];[=]Intron 22
P14c.[802A>G];[=]p.[Ser268Gly];[=]Exon 10
c.[1568T>A];[=]p.[Val523Glu];[=]Exon 15
  • Novel mutations in bold.

  • *Presumed mutation, DNA not available as patient deceased; unaffected family members heterozygotes for the mutation.