Supplementary Table 1.
List of all patients and family members analyzed in the present study . AKU family code is indicated which enables the reader to identify members of identical family and each AKU chromosome in the HGD mutation database and in Supplementary Table 2. Old names are indicated in brackets for the mutations that have been reclassified according to the HGVS nomenclature recommendations. Relationships between the members of one family are indicated – always referring to the patient=P
| AKU family code | Status (P=patient) | Sex | Age (years) | HDG allele 1 | HDG allele 2 | Country | Notes |
|---|---|---|---|---|---|---|---|
| AKU_DB_113 | P | F | 39 | G123A | G123A | Algeria | |
| AKU_DB_113 | P | M | 28 | G123A | G123A | Algeria | |
| AKU_DB_117 | P | M | 62 | G123A | G123A | Algeria | |
| AKU_DB_118 | P | M | 78 | G123A | G123A | Algeria | |
| AKU_DB_108 | P^ | F | 57 | S287X | S287X | Algeria | Father and mother are cousins |
| AKU_DB_108 | Husband of ^ | M | 56 | L44F | wt | Algeria | |
| AKU_DB_108 | P (son of ^) | M | 23 | L44F | S287X | Algeria | |
| AKU_DB_97 | P | F | 38 | D153fs (G152fs) | A218fs | Algeria/France | |
| AKU_DB_97 | Mother | F | 58 | wt | A218fs | Algeria | |
| AKU_DB_97 | Son1 | F | 5 | wt | ? | Algeria/France | |
| AKU_DB_97 | Son2 | F | 7 | wt | ? | Algeria/France | |
| AKU_DB_96 | P | M | 52 | IVS7+2T>C | M368V | France | Father and mother are not consanguineous but come from the same region in north of France, he has affected sister |
| AKU_DB_111 | P | M | 61 | G360A | G360A | France | Parents are not consanguineous but come from the same region in south–west of France |
| AKU_DB_109 | P | F | 54 | G270R | M368V | France/Armenia | Father from Armenia, mother from France |
| AKU_DB_109 | Mother | F | 91 | wt | M368V | France | |
| AKU_DB_110 | P | M | 46 | G161R | V157fs | France/Serbia | |
| AKU_DB_110 | Father | M | 79 | G161R | wt | Serbia | |
| AKU_DB_110 | Son1 | M | 20 | G161R | wt | France/Serbia | |
| AKU_DB_110 | Son2 | M | 7 | wt | V157fs | France/Serbia | |
| AKU_DB_110 | Son3 | M | 3 | G161R | wt | France/Serbia | |
| AKU_DB_110 | Son4 | M | 16 | G161R | wt | France/Serbia | |
| AKU_DB_110 | Daughter | F | 12 | G161R | wt | France/Serbia | |
| AKU_DB_110 | Daughter | F | 9 | G161R | wt | France/Serbia | |
| AKU_DB_112 | P | F | 56 | L116P | L116P | India | Parents are not consanguineous |
| AKU_DB_99 | P | M | A122V | A122V | India/Canada | ||
| AKU_DB_107 | P | F | 52 | W60X | W60X | Italy | Parents are not consanguineous, she has affected brother |
| AKU_DB_81 | P | M | 57 | G161R | G161R | Poland | |
| AKU_DB_100 | P | M | Q33R | G152A | South Korea | ||
| AKU_DB_100 | Mother | F | wt | G152A | South Korea | ||
| AKU_DB_100 | Father | M | Q33R | wt | South Korea | ||
| AKU_DB_98 | P | F | 14 | N219S | N219S | Turkey | Parents are not consanguineous, she has affected sister |
| AKU_DB_98 | P | F | 10 | N219S | N219S | Turkey | Parents are not consanguineous, she has affected sister, also has FMF |
| AKU_DB_98 | Father | M | 45 | wt | N219S | Turkey | |
| AKU_DB_98 | Mother | F | 40 | N219S | wt | Turkey | |
| AKU_DB_98 | Brother | M | 3 | N219S | wt | Turkey | Symptom free |
| AKU_DB_98 | Sister | F | 5 | N219S | wt | Turkey | Symptom free |
| AKU_DB_101 | P | F | 10 | G161R | D153fs (G152fs) | Slovakia | |
| AKU_DB_101 | Father | M | 45 | G161R | wt | Slovakia | |
| AKU_DB_101 | Mother | F | 37 | wt | D153fs (G152fs) | Slovakia | |
| AKU_DB_101 | Brother | M | 13 | G161R | wt | Slovakia | |
| AKU_ZAT_1 | P | M | 24 | G161R | G161R | Slovakia | |
| AKU_DB_102 | P | M | 24 | G161R | V300G | Slovakia | |
| AKU_DB_102 | P | M | 9 | G161R | V300G | Slovakia | |
| AKU_DB_102 | Brother | M | 11 | wt | wt | Slovakia | |
| AKU_DB_102 | Father | M | 52 | G161R | wt | Slovakia | |
| AKU_DB_102 | Mother | F | 46 | wt | V300G | Slovakia | |
| AKU_DB_103 | P | F | 8 | H371fs (P370fs) | G125fs | Slovakia | |
| AKU_DB_103 | Grandfather | M | 58 | H371fs (P370fs) | wt | Slovakia | |
| AKU_DB_103 | Mother | F | 37 | H371fs (P370fs) | wt | Slovakia | |
| AKU_DB_103 | Sister | F | 15 | H371fs (P370fs) | wt | Slovakia | |
| AKU_DB_104 | P | F | 53 | G161R | G161R | Slovakia | |
| AKU_DB_104 | P* | M | 51 | G161R | G161R | Slovakia | |
| AKU_DB_104 | Wife of* | F | 46 | wt | G161R | Slovakia | |
| AKU_DB_104 | P (son of*)# | M | 10 | G161R | G161R | Slovakia | |
| AKU_DB_104 | Cousin of# | M | 36 | wt | G161R | Slovakia | |
| AKU_DB_104 | Wife of cousin | F | 36 | wt | G161R | Slovakia | |
| AKU_DB_104 | P (son of cousin) | M | 9 | G161R | G161R | Slovakia | |
| AKU_DB_95 | P | F | 6 | P230S | M368V | Slovakia | |
| AKU_DB_95 | P | F | 7 | P230S | M368V | Slovakia | |
| AKU_DB_105 | P | F | 31 | G161R | G161R | Slovakia | |
| AKU_DB_106 | P | F | 32 | G161R | G161R | Slovakia | She has affected brother |
| AKU_DB_93 | P | F | 27 | E178G | G161R | Slovakia | |
| AKU_DB_94 | P | F | 52 | G161R | M368V | Slovakia | |
| AKU_DB_94 | Daughter | F | 32 | wt | M368V | Slovakia | |
| AKU_DB_94 | Son | M | 27 | G161R | wt | Slovakia | |
| AKU_DB_115 | P | M | 3m | G161R | G270R | Slovakia | |
| AKU_DB_115 | Father | M | 32 | wt | G270R | Slovakia | |
| AKU_DB_115 | Mother | F | 27 | G161R | wt | Slovakia | |
| AKU_DB_127 | P | M | 11 | G161R | G161R | Slovakia | |
| AKU_DB_127 | Father | M | 39 | G161R | wt | Slovakia | |
| AKU_DB_127 | Mother | F | 40 | wt | G161R | Slovakia | |
| AKU_DB_127 | Maternal grandfather | M | 67 | G161R | wt | Slovakia | |
| AKU_DB_127 | Maternal grandmother | F | 66 | wt | G161R | Slovakia | |
| AKU_DB_127 | Paternal grandfather | M | 76 | G161R | wt | Slovakia | |
| AKU_DB_127 | Paternal grandmother | F | 70 | wt | G161R | Slovakia | |
| AKU_DB_127 | Step brother (mother side) | M | 19 | G161R | wt | Slovakia | |
| AKU_DB_128 | P | F | 52 | G161R | G161R | Slovakia | He has affected siblings |