Table 1.

Characteristics of the patient cohorta

Patient No. Gender Origin Consanguinity Zygosity Nucleotide Change Consequence of Mutation Age at Manifestation Age at Time of Study Current Renal Function Lowest Serum Mg2+ Concentration (mM) Nephrolithiasis UTI Eye Lesions
F, female; M, male; Comp hetero, compound heterozygous; Homo, homozygous; del, deletion; ins, insertion; X, stop codon; fs, frameshift; GFR>60, GFR of>60 ml/min per 1.73 m2 [calculated as described (20)]; CRF, chronic renal failure (GFR of <60 ml/min per 1.73 m2); Tx, renal transplantation; UTI, urinary tract infection; ND, no data; S, strabism; M, myopia; A, astigmatism; H, hypermetropia.
aDNA nucleotide and amino acid position numbering was according to EMBL/GenBank/DDBJ accession no. AF152101.
bNo pretransplant serum-Mg2+ concentration data were available; the diagnosis was based on clinical findings and data for sibling F9-1.
F1-1 F German - Comp hetero 350(TGG→TAG)-453(TTG→TTT) Trp117X-Leu151Phe 2 mo 41 yr Tx 0.40 ND + -
F1-2 F German - Comp hetero 350(TGG→TAG)-453(TTG→TTT) Trp117X-Leu151Phe 7 yr 39 yr Tx 0.46 + + -
F2-1 F German - Comp hetero 453(TTG→TTT)-453(TTG→TGG) Leu151Phe-Leu151Trp 18 yr 42 yr Tx 0.23 + + -
F2-2 M German - Comp hetero 453(TTG→TTT)-453(TTG→TGG) Leu151Phe-Leu151Trp 12 yr 36 yr Tx 0.40 - - -
F3 F Turkish + Homo 593(GGT→GCT) Gly198Ala 6 mo 24 yr CRF 0.40 - + S
F4 F Tunesian + Homo-(homo) 715(GGA→AGA)-[165/166del(GG)→ins(C)] Gly239Arg-Arg55fs 4 yr 21 yr Dialysis 0.25 - - M, A
F5-1 F German - Comp hetero 434(CTG→CCG)-453(TTG→TTT) Leu145Pro-Leu151Phe 4 yr 17 yr GFR>60 0.48 - - -
F5-2 F German - Comp hetero 434(CTG→CCG)-453(TTG→TTT) Leu145Pro-Leu151Phe 7 yr 20 yr GFR>60 0.50 - - -
F6 M Bosnian - Comp hetero 453(TTG→TTT)-715(GGA→AGA) Leu151Phe-Gly239Arg 6 yr 14 yr GFR>60 0.30 ND - -
F7-1 M Czech - Homo 453(TTG→TTT) Leu151Phe 4 yr 11 yr CRF 0.51 + + H, A
F7-2 M Czech - Homo 453(TTG→TTT) Leu151Phe 9 mo 8 yr CRF 0.43 + + -
F8-1 M Tunesian + Homo-(homo) 421(CAT→GAT)-[165/166del(GG)→ins(C)] His141Asp-Arg55fs 18 mo 5 yr Dialysis 0.55 - + -
F8-2 F Tunesian + Homo-(homo) 421(CAT→GAT)-[165/166del(GG)→ins(C)] His141Asp-Arg55fs 4 yr 8 yr CRF 0.46 - + -
F9-1 F Algerian + Homo 646/647(CGT→ACT) Arg216Thr ND 23 yr CRF 0.49 - + -
F9-2 M Algerian + Homo 646/647(CGT→ACT) Arg216Thr ND 28 yr Tx NDb + + ND
F10 F Slovenian - Homo 434(CTG→CCG) Leu145Pro 7 yr 16 yr CRF 0.28 + + M
F11 F Adopted child ND Homo 715(GGA→AGA) Gly239Arg ND 13 yr CRF 0.48 - + -
F12 M German - Comp hetero 453(TTG→TTT)-625(GCT→ACT)-[165/166del(GG)→ins(C)] Leu151Phe-Ala209Thr-Arg55fs 11 yr 14 yr GFR>60 0.40 - - -
F13 M German - Homo 453(TTG→TTT) Leu151Phe 2 mo 9 yr CRF 0.43 - - -
F14-1 F German - Homo 453(TTG→TTT) Leu151Phe 3 yr 15 yr Tx 0.23 - - -
F14-2 F German - Homo 453(TTG→TTT) Leu151Phe 3 yr 15 yr CRF 0.30 + + M
F15 F German - Homo 446(CGA→CTA) Arg149Leu 6 yr 25 yr Tx 0.42 ND + -
F16 F German - Comp hetero 453(TTG→TTT)-785-14(T→G) Leu151Phe-Splice site mutation 3 yr 28 yr Dialysis 0.31 + + M
F17 F German - Homo 453(TTG→TTT) Leu151Phe 1 yr 17 yr CRF 0.38 - + -
F18 F German - Homo 453(TTG→TTT) Leu151Phe 9 yr 17 yr GFR>60 0.33 - - -
F19 M German - Hetero 325-5(T→G) Splice site mutation 5 yr 23 yr Dialysis 0.57 + + -
F20 M Polish - Comp hetero 434(CTG→CCG)-453(TTG→TTT) Leu145Pro-Leu151Phe 2 yr 14 yr Tx 0.61 - - M
F21-1 M Czech - Comp hetero 368del(A)-434(CTG→CCG) Asn123fs-Leu145Pro 3 mo 6 yr GFR>60 0.40 - + -
F21-2 F Czech - Comp hetero 368del(A)-434(CTG→CCG) Asn123fs-Leu145Pro 2 mo 3 yr GFR>60 0.58 - + -
F22 F German - Homo 453(TTG→TTT) Leu151Phe 9 mo 10 yr GFR>60 0.46 + + M
F23 M Czech - Comp hetero 453(TTG→TTT)-703(TCC→CCC) Leu151Phe-Ser235Pro 6 mo 13 yr CRF 0.40 - + -
F24 F French - No mutation in coding sequence 3 yr 15 yr GFR>60 0.27 - - ND
F25 M Macedonian - Homo 453(TTG→TTT) Leu151Phe 7 mo 10 mo GFR>60 0.40 - + -