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. 2016 Oct 15;55(20):3001–3007. doi: 10.2169/internalmedicine.55.6882

Table 1.

Gene Mutations Associated with NPH-MCKD.

Reference Inheritance Chromosome Gene Protein ESKD (yrs)
8.9 AR 2q13 NPHP1 Nephrocystin-1 13
10 AR 9q22-q31 NPHP2 Inversin <1
11 AR 3q21.1 NPHP3 Nephrocystin-3 19
12 AR 1p36.22 NPHP4 Nephroretinin 21
13 AR 3q21.1 IQCB1, NPHP5 Nephrocystin-5 13
14 AR 12q21.33 CEP290, NPHP5 Nephrocystin-6
15 AR 16q13.3 GLIS2 Zinc finger protein GLIS2
16 AD 1q21 MUC1 Mucin-1 62
17 AD 16q12.3 UMOD Uromodulin 32

AR: Autosomal Recessive, AD: Autosomal Dominant