Editorial
Copyright ©2013 Baishideng Publishing Group Co.
World J Nephrol. Nov 6, 2013; 2(4): 94-102
Published online Nov 6, 2013. doi: 10.5527/wjn.v2.i4.94
Table 1 Chromosomal mapping of some inherited proximal renal tubular acidosis
Inherited proximal RTAGeneChromosomal mapping
Autosomal recessiveSLC4A44q21
Dent´s syndromeCLCN5Xp11.22
CystinosisCTNS17p13.2
Tyrosinemia type 1FAH15q23-q25
GalactosemiaGALT9p13
Wilson´s diseaseATP7B13q14.3-q21.1
Fanconi Bickel SyndromeSLC2A23q26.1-26.3
Table 2 Summary of mutation variants of CTNS gene and with its phenotypic correlation
PhenotypeMutation
Five nephropathic:CTNS, GLY95TER and CTNS, 2-BP DEL, 397TG[58], CTNS, TRP138TER[58,73].
3 by Town et al[58]
2 forms by Shotelersuk et al[66]CTNS, GLY169ASP and CTNS, 5-BP DEL, NT545[66].
Two nephropathic forms in adolescentsCTNS, 4-BP DEL, 18GACT[58,65], CTNS, 57-KB DEL[61], originally reported by Town et al[58] as a 65-kb deletion
Two atypical nephropathicCTNS, VAL42ILE, CTNS, IVS7AS, C-G, -10[67]
Two ocular non-nephropathicCTNS, IVS10AS, C-G, -3, CTNS, GLY197ARG[45]
Three forms by Phornphutkul et al[68]CTNS, -295G-C[68] CTNS, -303G-T, CTNS, 1-BP INS, 303T[68]
Nephropathic
Ocular non-nephropathic
NephropathicCTNS, GLY339ARG[69]
Adolescent nephropathicCTNS, ASN323LYS[70]
Atypical nephropathicCTNS, GLY110VAL[62]
Adolescent nephropathic Atypical nephropathicCTNS, SER139PHE[65]