Table 1.

Rearrangements detected by MLPA in 24 GS patients with one heterozygous mutation in the SLC12A3 gene detected by direct sequencing

PatientNucleotide*ProteinExon/IntronReferenceMLPA Heterozygous del or dupSecond Technique for Confirmation
BT038c.3077C>Tp.Thr1026Ile2618E2_E3delLong range PCR and breakpoint sequencing
BT213c.1046C>Tp.Pro349Leu81E1_E7delSNPs analysis and oligo array comparative genomic hybridization
BT231c.1195C>Tp.Arg399Cys1016E9delLong range PCR
BT243c.1519C>Tp.Arg507Cys12This studyE4_E5delLong range PCR and breakpoint sequencing + E6del by QMPSF
BT247c.938C>Tp.Ala313Val716E26delQMPSF, Long range PCR and breakpoint sequencing
GT004c.1664C>Tp.Ser555Leu1316E19_E23delQMPSF, Long range PCR and breakpoint sequencing
GT034c.965–2_965–1dupSplice defect7This studyE4_E5delLong range PCR and breakpoint sequencing + E6del by QMPSF
GT059c.2891G>Ap.Arg964Gln251E26delQMPSF, Long range PCR and breakpoint sequencing
GT121c.2981G>Ap.Cys994Tyr2629E18delQMPSF, Long range PCR and breakpoint sequencing
GT122c.2965G>Ap.Gly989Arg2119E2_E3delQMPSF, Long range PCR and breakpoint sequencing
GT137c.2576T>Cp.Leu859Pro221E1_E3dupQMPSF
GT142c.2687G>Ap.Arg896Gln2330E14delQMPSF, Long range PCR and breakpoint sequencing
GT165c.2576T>Cp.Leu859Pro221E26delQMPSF, Long range PCR and breakpoint sequencing
GT185c.1825 + 1delSplice defect14This studyE1_E7delQMPSF for exons 1 to 3 and 6
GT187c.2576T>Cp.Leu859Pro221E26delQMPSF, Long range PCR and breakpoint sequencing
GT196c.473G>Ap.Arg158Gln329E24_E25delLong range PCR and breakpoint sequencing
GT243c.2981G>Ap.Cys994Tyr2629E4_E5delLong range PCR and breakpoint sequencing + E6del by QMPSF
GT278c.1387G>Ap.Gly463Arg11This studyE26delQMPSF, Long range PCR and breakpoint sequencing
GT281c.626G>Ap.Arg209Gln516E26delQMPSF, Long range PCR and breakpoint sequencing
GT285c.2929C>Tp.Arg977X251E14delLong range PCR and breakpoint sequencing
GT291c.533C>Tp.Ser178Leu416E1_E4dupQMPSF
B026c.1095 + 4A>GSplice defect8This studyE26delQMPSF, Long range PCR and breakpoint sequencing
B099c.2883 + 1G>TSplice defect241E26delQMPSF, Long range PCR and breakpoint sequencing
B104c.1883C>Gp.Ser628Trp15This studyE26delQMPSF, Long range PCR and breakpoint sequencing
  • Numbering is according to the cDNA sequence (GenBank : NM_000339.2). The A of the ATG of the initiator Methionine codon is denoted as nucleotide 1.