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Table 2 Previously reported amelogenesis imperfecta patients carrying pathogenic variants in SLC24A4

From: A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

Sr. No.OriginFamily InformationDentitionDiscolorationDental CariesAttritionEnamelcDNA ChangeAmino acid ChangeType of MutationHGMD Accession NumberExon No.InheritanceReferences
1PakistanConsanguineous, Two patients investigatedPermanentYellow-brownXXOpaque, premature enamel lossc.1015C > Tp.Arg339*NonsenseCM13302911Autosomal recessive(25)
2PakistanConsanguineous, One patient investigatedNAYellow-brownXXOpaque, premature enamel lossc.1495A > Tp.Ser499CysMissenseCM13303014Autosomal recessive(25)
3TurkeyConsanguineous, One patient investigatedMixedMilky BrownRough, pitted and softc.1317 T > Gp.Leu436ArgMissenseCM15017713Autosomal recessive(40)
4TurkeyConsanguineous, One patient investigatedPrimaryYellow or Cream-coloredNormal thickness, soft and chippedc.437C > Tp.Ala146ValMissenseCM1427195Autosomal recessive(36)
5TurkeyConsanguineous, One patient investigatedMixedBrownXAbradedChromosomal deletion (Chr14: 92,957,680-92,967,722del)Frameshift & PTCDeletionCG14287415, 16 and 17Autosomal recessive(39)
6PakistanConsanguineous, two patients investigatedPermanentYellow-brown, Creamy-coloredThinc.1192C > Tp.Gln398*NonsenseNA12Autosomal recessivePresent Study
  1. : the presence of phenotype X: the absence of phenotype NA: the information is not available in the literature