Gene Mutation Autosomal recessive<unk>  is an autosomal recessive disease with most of the mutations occur along the highly conservative regions of the gene. Both homozygous and heterozygous mutations have been identified along various location of the exon on the P450 arom (CYP19) gene localized on chromosome15p21.1. In addition, mutations in cytochrome P450 oxidoreductase (POR), which is required for enzymatic activity of<unk> , can also cause<unk> . + Table 1. Summary of known homozygous mutations in P450 arom (CPY19) gene Gender Mutation Transcription Results<unk>  Activity (%) Female GT to GC at the 5’ Terminus of intron VI An extra 87 bp insertion, between exon VI and intron VI 0.3% Female/Male Single base change at bp 1123: C to T in exon X Cysteine being transcribed instead of Arginine at position 375 (R375C) 0.2% Female Point mutation (R457X) in exon X No Transcription - Female Mutation Valine 370 to Methionine in exon IX - - Female 1600 bp deletion in exon V<unk>  lacking 59 Amino Acids - Female Point mutation in exon X (R435C) Missense mutation that causes loss of function - Female Deletion of a single Phenylalanine residue at codon 234 in exon VI - - Female 568C insertion in CYP19A1 190 Leucine was changed to Proline - Female Single base change at bp 1094 (G to A) in exon IX Glutamine instead of Arginine being transcribed at position 365 (R365Q) 0.4 Male C-base deletion in exon V Resulting in a stop codon after 21 codons 0.0 Male C to A substitution in intron V, at 3’ splicing acceptor site before exon VI Premature stop codon - Male Insertion of 21 bp at the codon 353 in exon IX - - Male Single base change at bp 628 (G to A) in the last nucleotide of exon V Glutamic acid instead of a Lysine being transcribed at position 210 (E210K) 1.0 + Table 2. Summary of known heterozygous mutations in P450 arom (CPY19) gene Gender Mutation Transcription Results<unk>  Activity (%) Female Single base changes in exon X at bp 1303: C to T Cysteine was transcribed instead of Arginine at position 435 (R435C) 1.1 Single base changes in exon X at bp 1310: G to A Tyrosine was transcribed instead of Cysteine at position 437 (C437Y) 0.0 Female Point mutation (G to A) at the splicing point between exon and intron III No transcription 0.0 Base pair deletion occurring at P408 (CCC) in exon IX Nonsense codon 111 bp were transcribed down in the CYP19 0.0 Female Point mutation (GAA to AAA) at bp 628 in exon V Glutamic acid transcribed instead of lysine at position 210 (E210K) 0.0 A Base pair deletion occurring at E412 in exon IX Transcribed a stop codon 98 bp downstream 0.0 Male Point mutation (ATG to AGG) at bp 380 in exon IV Methionine was transcribed instead of arginine at position 127 (M127R) - Point mutation (CGC to CAC) at bp 1123 in exon IX 2. Arginine was transcribed instead of histidine at position 375 (R375H) - Male 23 bp deletion in exon IV Premature stop codon in exon IV - Point mutation (G to T) at first bp in intron IX Alternative splicing? -
Aromatase deficiency
Estrogen insensitivity syndrome
Isolated 17,20-lyase deficiency
5α-Reductase 2 deficiency
Partial androgen insensitivity syndrome
Androgen-induced hermaphroditism
Congenital estrogen deficiency
Aromatase excess syndrome