Table 3: Distribution of mutations in the tested alleles and zygosity status among Iraqi CAH cases.

Homozygotes
number (%)
Heterozygotes
number (%)
Compound heterozygotes
number (%)
Total detected
number (%)
Undetected
number (%)
Total
number (%)

Cases31 (50)
(i) 12 Del
(ii) 19 PM
9 (14.51)
(i) 0 Del
(ii) 9 PM
2 (3.23)
(i) 0 Del
(ii) 2 PM
42 (67.75)
(i) 12
(ii) 30
20 (32.25)62 (100)
Tested alleles62 (50)18 (14.51)
(i) 9 detected (7.25)
(ii) 9 undetected (7.25)
4 (32.23)75 (60.48)49 (39.52)124 (100)
Mutations62 (50)
(i) 24 Del
(ii) 38 PM
9 (7.25)
(i) 0 Del
(ii) 9 detected PM
(iii) 9 undetected
6 (4.83)
(i) 0 Del
(ii) v6 PM
77 (62.1)#
(i) 24 Del
(ii) 53 PM
49 (39.52)124 expected mutations

Del = large deletion/conversion. PM = point mutation.
40 alleles from 20 homozygous cases plus 9 heterozygous cases where only one mutation was found.
Those two cases each carry 3 point mutations in their 2 alleles (I2Splice, Q318X, and Del 8 bp).
77 mutations were detected in 75 alleles.
126 total number of mutations (77 were detected and 49 undetected) instead of 124 expected mutations.