I172N mutation in the CYP21 gene as an etiology for salt wasting congenital adrenal hyperplasia

In this study, two Egyptian families with salt-wasting 21-hydroxylase deficiency [SW-21 OHD] due to I172N mutation were reported. Two cases presenting within the neonatal period were the products of consanguineous marriages and had a family history of recurrent deaths of male and ambiguous female sibs during infancy. The proband female case of the family had ambiguous genitalia, 46, XX karyotype and intact Mullerian structures. The proband male case of the family had enlarged penis, darkened genital skin and normal testes. Both probands had low sodium and high potassium serum levels as well as high basal 17 alpha hydroxy progesterone values [i.e. 190 and 18 ng/ml]. Using allele specific-polymerase chain reaction technique, genomic DNA samples from both probands and their mothers were tested for four prevalent CYP21 mutations among Egyptians. Screening for the four mutations revealed that both cases were homozygous for I172N mutation, while both mothers were heterozygous [wild/I172N]

Allele profiles of short tandem repeat loci in Egyptians

In this study, relative allele frequencies of 4 short tandem repeats [STR] loci in 47 unrelated subjects from Egyptian population as a primary step for forming a nationwide database was reported. The sample represented various geographical, ethnic and religious backgrounds that constituted contemporary Egyptian population. DNA was extracted from whole blood using salting out method. The allele patterns in Egyptian sample showed high levels of heterozygosity over 74% in 3 loci. The interpopulation differences were least detected with Caucasians and most with Asian and Hispanic Americans