Genetic and Hematologic Characteristics of Patients With PKD
| Patient No. . | Reticulocytes (%) . | Residual PK Activity (%) . | Mutations . | Amino Acid Substitutions . | Nationality . | (T)n in Intron I . | (ATT)n in Intron J . | C/A 1705 . | C/T 1992 . |
|---|---|---|---|---|---|---|---|---|---|
| . | . | . | (alleles 1 and 2) . | . | . | . | . | . | . |
| 1 | 60-80 | 6 | G1529A/1203insAGC | Arg510-Gln/ins Ser after Cys401 | German | 10/19 | 14/12 | C/A | C/T |
| 2 | 25 | 10 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | German | 10/10 | 14/14 | C/C | C/C |
| 3 | 20-40 | 14 | C1594T/G994A | Arg532-Trp/Gly332-Ser | Slovak | 10/10 | 17/17 | C/C | C/C |
| 4 | 53-80 | 21 | Splicing 101-1G-A/G1493A | Splice-site mutation/Arg498-His | Czech | 10/19 | 15/13 | C/A | C/T |
| 5 | 4-5 | 87 | G1006T/? | Ala336-Ser/? | Czech | 10/10 | 14/14 | C/C | C/C |
| 6 | 60-90 | 12 | C1594T/1060delAAG | Arg532-Trp/del Lys354 | Czech | 10/10 | 17/15 | C/C | C/C |
| 7 | 8-10 | 24 | C1456T/A1081G | Arg486-Trp/Asn361-Asp | Czech | 10/10 | 14/14 | C/C | C/C |
| 8 | 5-7 | 25 | C1456T/splicing 101-1G-A | Arg486-Trp/splice-site mutation | Czech | 10/10 | 14/15 | C/C | C/C |
| 9 | 30-90 | 25 | G994A/C1594T | Gly332-Ser/Arg532-Trp | Czech | 10/10 | 17/17 | C/C | C/C |
| 10 | 9 | 28 | C1456T/1060delAAG | Arg486-Trp/del Lys354 | Slovak | 10/10 | 14/15 | C/C | C/C |
| 11 | 15 | 42 | G1174A/? | Ala392-Thr/? | Slovak | 10/10 | 15/16 | C/C | C/C |
| 12 | 20-30 | ND | G1529A/G1529A | Arg510-Gln/Arg510-Gln | English | 10/10 | 14/14 | C/C | C/C |
| 13 | 34 | 12 | G1529A/A1081G | Arg510-Gln/Asn361-Asp | German | 10/10 | 14/16 | C/C | C/C |
| 14 | 35 | 43 | C1456T/G1010A | Arg486-Trp/Arg337-Gln | German | 10/10 | 14/14 | C/C | C/C |
| 15 | 5 | 20 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | German | 10/10 | 14/14 | C/C | C/C |
| 16 | 56 | 200* | G1529A/G1281T | Arg510-Gln/Glu427-Asp | German | 10/10 | 14/17 | C/C | C/C |
| 17 | 8 | 18 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | Slovak | 10/10 | 14/14 | C/C | C/C |
| 18 | 5 | 30 | G787A/? | Gly263-Arg/? | German | 10/10 | 14/16 | C/C | C/C |
| 19 | 18 | 14 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | German | 10/10 | 14/14 | C/C | C/C |
| 20 | 19 | 70 | 1060delAAG/? | del Lys 354/? | Slovak | 10/10 | 15/15 | C/C | C/C |
| 21 | ND | ND | 628delGT/? | Frameshift/? | English | 10/10 | 14/15 | C/C | C/C |
| 22 | ND | ND | G1529A/G994A | Arg510-Gln/Gly332-Ser | English | 10/10 | 14/17 | C/C | C/C |
| 23 | ND | ND | C1456T/G1127T | Arg486-Trp/Ser376-Ile | English | 10/10 | 14/15 | C/C | C/C |
| 24 | ND | 25 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | English | 10/10 | 14/14 | C/C | C/C |
| 25 | ND | ND | G1529A/C1456T | Arg510-Gln/Arg486-Trp | English | 10/10 | 14/14 | C/C | C/C |
| 26 | 14 | 45 | G1529A/C1454T | Arg510-Gln/Ser485-Phe | German | 10/19 | 14/12 | C/A | C/T |
| 27 | 13 | 17 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | German | 10/10 | 14/14 | C/C | C/C |
| 28 | 8 | 17 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | German | 10/10 | 14/14 | C/C | C/C |
| 29 | 66 | 10 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | German | 10/10 | 14/14 | C/C | C/C |
| Control | 0-1 | 100 |
| Patient No. . | Reticulocytes (%) . | Residual PK Activity (%) . | Mutations . | Amino Acid Substitutions . | Nationality . | (T)n in Intron I . | (ATT)n in Intron J . | C/A 1705 . | C/T 1992 . |
|---|---|---|---|---|---|---|---|---|---|
| . | . | . | (alleles 1 and 2) . | . | . | . | . | . | . |
| 1 | 60-80 | 6 | G1529A/1203insAGC | Arg510-Gln/ins Ser after Cys401 | German | 10/19 | 14/12 | C/A | C/T |
| 2 | 25 | 10 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | German | 10/10 | 14/14 | C/C | C/C |
| 3 | 20-40 | 14 | C1594T/G994A | Arg532-Trp/Gly332-Ser | Slovak | 10/10 | 17/17 | C/C | C/C |
| 4 | 53-80 | 21 | Splicing 101-1G-A/G1493A | Splice-site mutation/Arg498-His | Czech | 10/19 | 15/13 | C/A | C/T |
| 5 | 4-5 | 87 | G1006T/? | Ala336-Ser/? | Czech | 10/10 | 14/14 | C/C | C/C |
| 6 | 60-90 | 12 | C1594T/1060delAAG | Arg532-Trp/del Lys354 | Czech | 10/10 | 17/15 | C/C | C/C |
| 7 | 8-10 | 24 | C1456T/A1081G | Arg486-Trp/Asn361-Asp | Czech | 10/10 | 14/14 | C/C | C/C |
| 8 | 5-7 | 25 | C1456T/splicing 101-1G-A | Arg486-Trp/splice-site mutation | Czech | 10/10 | 14/15 | C/C | C/C |
| 9 | 30-90 | 25 | G994A/C1594T | Gly332-Ser/Arg532-Trp | Czech | 10/10 | 17/17 | C/C | C/C |
| 10 | 9 | 28 | C1456T/1060delAAG | Arg486-Trp/del Lys354 | Slovak | 10/10 | 14/15 | C/C | C/C |
| 11 | 15 | 42 | G1174A/? | Ala392-Thr/? | Slovak | 10/10 | 15/16 | C/C | C/C |
| 12 | 20-30 | ND | G1529A/G1529A | Arg510-Gln/Arg510-Gln | English | 10/10 | 14/14 | C/C | C/C |
| 13 | 34 | 12 | G1529A/A1081G | Arg510-Gln/Asn361-Asp | German | 10/10 | 14/16 | C/C | C/C |
| 14 | 35 | 43 | C1456T/G1010A | Arg486-Trp/Arg337-Gln | German | 10/10 | 14/14 | C/C | C/C |
| 15 | 5 | 20 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | German | 10/10 | 14/14 | C/C | C/C |
| 16 | 56 | 200* | G1529A/G1281T | Arg510-Gln/Glu427-Asp | German | 10/10 | 14/17 | C/C | C/C |
| 17 | 8 | 18 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | Slovak | 10/10 | 14/14 | C/C | C/C |
| 18 | 5 | 30 | G787A/? | Gly263-Arg/? | German | 10/10 | 14/16 | C/C | C/C |
| 19 | 18 | 14 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | German | 10/10 | 14/14 | C/C | C/C |
| 20 | 19 | 70 | 1060delAAG/? | del Lys 354/? | Slovak | 10/10 | 15/15 | C/C | C/C |
| 21 | ND | ND | 628delGT/? | Frameshift/? | English | 10/10 | 14/15 | C/C | C/C |
| 22 | ND | ND | G1529A/G994A | Arg510-Gln/Gly332-Ser | English | 10/10 | 14/17 | C/C | C/C |
| 23 | ND | ND | C1456T/G1127T | Arg486-Trp/Ser376-Ile | English | 10/10 | 14/15 | C/C | C/C |
| 24 | ND | 25 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | English | 10/10 | 14/14 | C/C | C/C |
| 25 | ND | ND | G1529A/C1456T | Arg510-Gln/Arg486-Trp | English | 10/10 | 14/14 | C/C | C/C |
| 26 | 14 | 45 | G1529A/C1454T | Arg510-Gln/Ser485-Phe | German | 10/19 | 14/12 | C/A | C/T |
| 27 | 13 | 17 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | German | 10/10 | 14/14 | C/C | C/C |
| 28 | 8 | 17 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | German | 10/10 | 14/14 | C/C | C/C |
| 29 | 66 | 10 | G1529A/G1529A | Arg510-Gln/Arg510-Gln | German | 10/10 | 14/14 | C/C | C/C |
| Control | 0-1 | 100 |
Patients no. 1 to 12 have been previously reported.24
Abbreviation: ND, not determined.
See Materials and Methods.