Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia

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 (%)
Cases	31 (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 alleles	62 (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)
Mutations	62 (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.