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 consanguinous 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 consanguinous 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 consanguinous
AKU_DB_99 / P / M / A122V / A122V / India/Canada
AKU_DB_107 / P / F / 52 / W60X / W60X / Italy / parents are not consanguinous, 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 consanguinous, she has affected sister
AKU_DB_98 / P / F / 10 / N219S / N219S / Turkey / parents are not consanguinous, 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 / grand father / 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 / maternar 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