the international society for mannosidosis & related diseases
An extraction from Spectrum of mutations in a-mannosidosis by Thomas Berg, Hilde Monica Frostad Riise, Gaute Martin Hansen, Dag Malm, Lisbeth Tranebjaerg, Ole Kristian Tollersrud and Øivind Nilssen. American Journal of Genetics, January 1999.
see also: Geographic Map of Patient Mutations
legend:
| Patient | Ethnicity | Mutation on Allele 1 | Mutation on Allele 2 | Sources |
| 1a | Dutch | W77X | ND | O. P. van Diggelen, Rotterdam |
| 2a,b | Dutch | 1076-1077insA | 1076-1077insA | R. Wevers, Nijmegen, The Netherlands; Jansen et al. (1987) |
| 3a,b | Dutch | R750W | ND | O. P. van Diggelen, Rotterdam |
| 4a | Finnish | IVS14+1G->C | IVS14+1G->C | M. Renlund, Helsinki |
| 5a | Finnish | R750Wc | R750Wc | M. Renlund, Helsinki |
| 6a,b | Finnish | R750W | ND | GM00654;d Autio et al. (1973) |
| 7a | Finnish | R750Wc | ND | M. Renlund, Helsinki |
| 8a | French (Reunion) | 935delAT | 935delAT | E. Vamos, Brussels; Farriaux et al. (1975) |
| 9a,b | French (Reunion) | IVS17 +1G->A | IVS17 +1G->A | C. Largillière, Lille, France; Farriaux et al. (1975) |
| 10a,b | German | Y359X | IVS11-3del125 | M. Beck, Mainz, Germany |
| 11a,b | German | Y359X | IVS7+2T->G,E402K | M. Beck, Mainz, Germany; Spranger et al. (1976) |
| 12b | German | 1815delA | IVS14+1G->C | M. Beck, Mainz, Germany; Gehler et al. (1975) |
| 13 | German | R750Wc | ND | M. Beck, Mainz, Germany |
| 14a,b | Greek | IVS5-1G->Cc | ND | H. Michelakakis, Athens |
| 15A | Italian | IVS12+2T->Gc | IVS12+2T->Gc | R. Gitzelmann and N. U. Bosshard, Zurich |
| 15B | Italian | IVS12+2T->Gc | IVS12+2T->Gc | R. Gitzelmann and N. U. Bosshard, Zurich |
| 16 | Italian | T355P | IVS17+1G->T | R. Gatti, Genoa |
| 17a | Italian | IVS17+1G->T | ND | R. Gatti, Genoa; Cerruti Mainardi et al. (1982) |
| 18a | Italian | R750W | R750W | B. Bertagnolio, Milan |
| 19a,b | Norwegian | 1153-1154insCCc | 1153-1154insCCc | D. Malm and L. Tranebjærg, Tromsø, Norway; Malm et al. (1995) |
| 20Aa,b | Norwegian | 1153-1154insCCc | IVS14-2A->Gc | D. Malm and L. Tranebjærg, Tromsø, Norway; Malm et al. (1995) |
| 20Bb | Norwegian | 1153-1154insCCc | IVS14-2A->Gc | D. Malm and L. Tranebjærg, Tromsø, Norway; Malm et al. (1995) |
| 21Ab | Norwegian | IVS14-2A->Gc | IVS14-2A->Gc | D. Malm and L. Tranebjærg, Tromsø, Norway |
| 21Bb | Norwegian | IVS14-2A->Gc | IVS14-2A->Gc | D. Malm and L. Tranebjærg, Tromsø, Norway |
| 22a | Norwegian | IVS14+1G->Cc | L809Pc | D. Malm and L. Tranebjærg, Tromsø, Norway |
| 23a,b | Polish | R750W | R750W | O. P. van Diggelen, Rotterdam |
| 24a,b | Polish | R750W | ND | B. Czartoryska, Warsaw |
| 25a | Polish | R750W | ND | B. Czartoryska, Warsaw |
| 26a | Polish | R750W | ND | B. Czartoryska, Warsaw |
| 27a,b | Spanish | W714R | W714R | E. Vamos, Brussels; Loeb et al. (1969) |
| 28b | Spanish | E563X | E563X | A. Chabàs and M. J. Coll, Barcelona |
| 29b | Swedish | R750W | L809P | J.-E. Månsson, Mølndal, Sweden |
| 30a,b | Swedish | L809P | L809P | J.-E. Månsson, Mølndal, Sweden |
| 31a,b | Turkish | R750W | R750W | O. P. van Diggelen and J. G. N. de Jong, Rotterdam; Jansen et al. (1987) |
| 32a,b | Caucasian | P356R | P356R | GM04518d |
| 33a,b | Caucasian | R750W | R750W | GM02817d |
| Page title: Spectrum of
Mutations in Alpha Mannosidosis URL: http://www.mannosidosis.org/alphaman/mutations.htm Editor: Dag Malm; Webmaster: Paul Murphy |
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