Table 1. Clinical characteristics, histological findings, and type of mutation in the UMOD gene among 11 families with FJHNa

FamilyOriginNo. of individuals with UMOD mutationClinical phenotypeCystscRenal histologyMutation
Renal functionAgebGout/age at first attackNucleotide changeEffect on coding sequence
a ESRF, end stage renal failure; CRF, chronic renal failure; NL, normal renal function; TIN, tubulointerstitial nephritis; ND, no data available.
b Age at the time of examination or at ESRF.
c Detected by renal imaging (ultrasonography or CT).
d Mutation previously reported (22).
F1Belgium6ESRF28, 36, 40, 42, 54, 63+ (6/6)/8, 18, 19, 26, 32, ND+ (3/3)3/3 TINC658AArginine → Serine R185S
5NL7, 10, 16, 22, 34− (5/5)NDND
F2France (Corsica)1ESRF47+/34− (1/1)NDG770CArginine → Proline R222P
6CRF23, 26, 38, 44, 45, 54+ (3/6)/21, 23, 28+ (2/2)2/2 TIN
F3France1ESRF38+/14NDND668del99In-frame deletion
2CRF9, 12− (2/2)NDND
F4France2CRF72, 73− (2/2)+ (1/2)NDG614ACysteine → Thyrosine C170Y
1NL33NDND
F5Italy1ESRF52+/31NDNDT481CCysteine → Arginine C126Rd
1CRF31+/20NDND
F6Belgium1ESRF64+/30+NDT439CCysteine → Arginine C112R
F7Morocco1CRF57+/38NDC715GArginine → Glycine R204G
F8Belgium1ESRF59+NDA281CAspartate → Alanine D59A
F9France4ESRF38, 52, 58, 60+ (1/4)/15+ (1/1)1/4 TINC779TThreonine → Methionine T225M
3CRF34, 35, 40− (3/3)NDND
1NL34NDND
F10France1ESRF25+/14NDNDT949CCysteine → Arginine C282R
F11Belgium1ESRF36+/21NDT794GCysteine → Glycine C217G