Table 4 of
Klintworth, Mol Vis 2006;
12:159-176.
Table 4. Summary of all CHST6 mutations found in MCD
In the "change" column, mutations reported previously have been changed from the authors' nomenclature to conform with recommended nomenclature. All previous reports have designated the first nucleotide of the CHST6 cDNA sequence as documented by Akama et al. [33] (GenBank accession number AF219990) as nucleotide +1, except for Gruenauer-Kloevekorn et al. [48], who designated the first nucleotide of the CHST6 cDNA sequence as reported by Hemmerich et al. [36] (GenBank accession number NM_021615) as nucleotide +1, and Sultana et al. [4], who designated the first nucleotide of the ATG initiation codon as nucleotide +1 (recommended nomenclature). An asterisk in the "Source" column indicates an inclusion of data from this article.
Total Number number of of families Change families per country Source --------------------------------------------- --------- --------------- ------- No mutation detected (on one or both alleles) 17 6 USA [43]* 2 France [42] 9 India [2-4] Deletion upstream from coding region 7 4 USA * 2 Japan [33] 1 Italy [52] Replacement upstream from coding region 3 3 Japan [33] Deletion of ORF 5 2 USA * 2 India [2] 1 Japan [33] c.1A>T (Met1?) 5 4 USA * 1 Germany [48] c.[6G>A; 7C>A] (Trp2X + Leu3Met) 1 1 India [4] c.15_16delCG (Arg5fs) 1 1 India [2] c.15_16insATGCTGTGCG (Val6fs) 1 1 Iceland [40] c.16_40del (Val6fs) 2 2 India [3,4] c.44T>C (Leu15Pro) 1 1 France [42] c.51delG (Gln18fs) 1 1 USA * c.52C>T (Gln18X) 1 1 India [3] c.65T>G (Leu22Arg) 1 1 India [2] c.91C>T (Pro31Ser) 2 1 USA * 1 Britain [41] c.94_100del (Ser32fs) 1 1 India [3] c.124C>T (His42Tyr) 1 1 India [2] c.137T>C (Leu46Pro) 1 1 USA * c.148C>A (Arg50Cys) 1 1 Japan [33] c.148C>T (Arg50Cys) 2 2 India [2] c.149G>T (Arg50Leu) 2 2 India [2] c.152C>T (Ser51Leu) 2 1 USA [43] 1 Vietnam [49] c.155G>A (Gly52Asp) 2 2 India [3] c.158C>T (Ser53Leu) 8 1 USA * 7 India [2,3] c.161C>T (Ser54Phe) 1 1 India [4] c.[166G>A; 167T>G] (Val56Arg) 1 1 India [4] c.172C>T (Gln58X) 1 1 France [42] c.176T>C (Leu59Pro) 2 2 Vietnam [49] c.180delC (Phe60fs) 3 3 India [3,4] c.182A>C (Asn61Thr) 1 1 France [42] c.189C>G (His63Gln) 1 1 USA * c.196G>C (Val66Leu) 1 1 Vietnam [49] c.197T>A (Val66Asp) 1 1 Saudi Arabia [44] c.198delC (Phe67fs) 8 8 India [2,3] c.199T>A (Phe67Ile) 1 1 France [42] c.199T>G (Phe67Val) 1 1 Saudi Arabia [44] c.202T>C (Tyr68His) 1 1 France [42] c.213G>T (Glu71Asp) 1 1 Britain [41] c.214C>T (Pro72Ser) 2 1 USA [43] 1 Britain [41] c.217G>A (Ala73Thr) 1 1 India [4] c.217G>C (Ala73Pro) 1 1 USA * c.226G>A (Val76Met) 1 1 Vietnam [49] c.231G>A (Trp77X) 1 1 USA * c.231G>C (Trp77Cys) 1 1 USA [43] c.244C>T (Gln82X) 2 1 France [42] 1 Vietnam [45,49] c.271_273delGCTinsA (Ala91fs) 2 1 France [42] 1 USA * c.274G>C (Val92Leu) 1 1 USA * c.277C>A (Arg93Ser) 3 3 USA [43]* c.278G>A (Arg93His) 1 1 India [2] c.290G>C (Arg97Pro) 1 1 India [2] c.[293C>G; 294C>G] (Ser98Trp) 1 1 India [3] c.[293C>T; 294C>G] (Ser98Leu) 1 1 India [4] c.304T>G (Cys102Gly) 4 2 USA [43] 1 France [42] 1 Italy [52] c.305G>A (Cys102Tyr) 2 2 India [2] c.310A>G (Met104Val) 1 1 USA [43] c.320T>C (Phe107Ser) 4 1 Britain [41] 3 India [3] c.329A>G (Tyr110Cys) 1 1 USA [43] c.340C>T (Arg114Cys) 1 1 USA * c.363C>G (Phe121Leu) 2 1 USA * 1 India [3] c.363_364insC (Gln122fs) 1 1 France [42] c.365A>C (Gln122Pro) 2 2 USA [43]* c.369G>A (Trp123X) 2 2 India [3,4] c.375_376insGGCCGTGC (Ser126fs) 3 3 Vietnam [45,49] c.379C>T (Arg127Cys) 4 1 Saudi Arabia [44] 3 India [2] c.383C>T (Ala128Val) 6 6 Iceland [40] c.391T>C (Ser131Pro) 2 1 France [42] 1 India [4] c.392C>T (Ser131Leu) 3 3 USA * c.414_415insTT (Pro139fs) 1 1 Japan [33] c.418C>T (Arg140X) 2 1 USA [50] 1 Britain [51] c.455T>C (Leu152Pro) 1 1 France [42] c.459C>A (Cys153X) 2 2 India [3,4] c.[494G>C; 495C>T] (Cys165Ser) 9 8 Saudi Arabia [44] 1 India [4] c.495C>G (Cys165Trp) 1 1 India [4] c.497G>C (Arg166Pro) 2 1 France [42] 1 Iceland [40] c.500C>T (Ser167Phe) 1 1 India [4] c.521A>G (Lys174Arg) 3 3 Japan [33] c.529C>T (Arg177Cys) 2 2 USA * c.530G>A (Arg177His) 1 1 Japan [47] c.533T>G (Phe178Cys) 1 1 India [4] c.545delA (Gln182fs) 13 13 India [2,4] c.573_574insC (Ala192fs) 1 1 USA * c.578T>C (Leu193Pro) 1 1 India [4] c.581_586delACCTACinsGGT 2 2 India [2] (Asn194_Arg196delinsArgCys) c.587_588insACG (Arg196_Ile197insArg) 1 1 India [3] c.593T>A (Val198Glu) 1 1 Italy [52] c.599T>G (Leu200Arg) 16 12 USA [43]* 2 Britain [41,51] 1 France [42] 1 Italy [52] c.604C>A (Arg202Ser) 2 2 India [3,4] c.607G>A (Asp203Asn) 2 2 USA * c.609C>A (Asp203Glu) 2 2 Japan [33] c.611C>A (Pro204Gln) 3 1 France [42] 1 India [3] 1 Japan [47] c.611C>G (Pro204Arg) 1 1 India [4] c.612_614delGCGinsAT (Arg205fs) 2 2 India [2,3] c.614G>A (Arg205Gln) 2 2 India [2] c.614G>T (Arg205Leu) 1 1 Japan [47] c.616G>A (Ala206Thr) 1 1 India [2] c.617C>T (Ala206Val) 1 1 Britain [41] c.629C>T (Ser210Phe) 1 1 India [3] c.631C>T (Arg211Trp) 5 5 Japan [33,47] c.632G>A (Arg211Gln) 8 8 Vietnam [49] c.649G>A (Ala217Thr) 2 2 Japan [39,47] c.656_657insCTG (Ala219_Arg220insTrp) 6 6 India [3,4] c.661G>T (Asp221Tyr) 2 2 India [3,4] c.663C>G (Asp221Glu) 5 5 India [3,4] c.668G>A (Gly223Asp) 1 1 USA [50] c.[682A>G; 683C>A] (Thr228Asp) 1 1 USA * c.696G>A (Trp232X) 1 1 Vietnam [49] c.738C>G (Cys246Trp) 1 1 USA * c.740delG (Arg247fs) 1 1 USA * c.744C>G (Ser248Arg) 1 1 USA * c.746A>C (His249Pro) 1 1 India [2] c.803A>G (Tyr268Cys) 2 2 Vietnam [49] c.814C>A (Arg272Ser) 1 1 India [4] c.815G>A (Arg272His) 1 1 USA * c.820G>A (Glu274Lys) 2 1 India [2] 1 Japan [33] c.827T>C (Leu276Pro) 5 3 USA [43]* 1 Britain [51] 1 India [4] c.925G>T (Gly309X) 1 1 India [3] c.991C>T (Gln331X) 1 1 USA [43] c.993G>T (Gln331His) 2 1 USA [50] c.1000C>T (Arg334Cys) 4 3 USA * 1 India [4] c.1002_1012delinsTTG (His335fs) 2 2 India [4] c.1039G>T (Glu347X) 1 1 India [3] c.1046G>A (Cys349Tyr) 1 1 USA * c.1047C>G (Cys349Trp) 1 1 USA * c.1056_1078del (Leu353fs) 1 1 India [2] c.1060_1061insGTGCGCTG (Gln354fs) 1 1 USA [43] c.1072T>G (Tyr358Asp) 1 1 Britain [51] |