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Table 4 Gene spectrum of uncharacterized PAI in other ethnic groups

From: Genetic aetiology of primary adrenal insufficiency in Chinese children

Country STAR NR0B1 SAMD9 AAAS NNT MC2R CDKN1C AIRE CYP11A1 MRAP NR5A1 ABCD1 CYP11B1 Unknown Positive percentage (%)
Japan [17]a 19 18 7 2 2 1 1 0 0 0 9 84.7
Canada [18]a 5 0 0 0 1 3 0 0 2 81.8
Turkey [19]a+b 11 12 0 1 7 25 0 0 9 9 1 2 0 18 81.0
UK Study [20]c 0 4 0 2 2 1 0 2 5 0 0 0 1 26 41.9
China (this study)c+d 0 3 0 3 1 0 0 0 0 0 0 1 0 3 72.7
  1. aTargeted gene sequence
  2. bNext-generation sequencing
  3. cWhole-exome sequencing
  4. dArray-based comparative genomic hybridization