Makale Arama

Androgen insensitivity syndrome (AIS) is an X-linked recessive disorder associated with incompatible
genotypes and phenotypes caused by mutations in the androgen receptor (AR) gene is located at
Xq11-q12. We have detected a rare mutation in the AR gene that has not been reported in the literatüre.
Clinical findings are female external genitalia at birth, abnormal secondary sexual development in puberty,
infertility in individuals with a 46, XY karyotype as typically characterized AIS. In our case, a 17-yearold
female phenotype presented with primary amenorrhoea and predominantly female external genitalia.
The patient had 46,XY with female phenotype. We detected a missense rare mutation in the first exon as
NM000044 c.5A>G variant was not found in ExAc or 1000genome population database, however, ıt was.
Substituting at position 2 to glutamic acid exchange to glycine. Glutamic acid is a polar amino acid with
a negative charge while glycine has stayed in a nonpolar hydrophobic group. So, we thought that the
mutation may cause a physical defect in protein and the native three-dimensional structure of the AR gene

Nörofibromatozis tip I (NF1), 17. kromozomda nörofibromin protein kodlayan genin mutasyonuna yol açan karmaşık bir hastalıktır. NF1 otozomal dominant bir hastalıktır. Bireylerde NF1 prevalansı yaklaşık 1: 2500 ila 1: 3500'tür. Erkekler ve kadınlarda eşit olarak görülür. Bu çalışmada çok sayıda hiperpigmente deri makülü, birden fazla café-au-lait lekesi, aksiller çillenmesi, optik gliomu, yüzlerce yumuşak deri nörofibromu ve her iki gözün irisinde lisch nodülleri bulunan 27 yaşında bir kadın hasta sunulmuştur. Klinik özelliklere göre, nörofibromatozis tip 1'den şüphelenilen hastadan, NF1 geninin dizi analizi yapıldı ve NF1 geninde bir heterozigot mutasyon c.980 T> G (p.L327R) tespit edildi. Bu mutasyon literatürde daha önce rapor edilmemiştir.