a sry-hmg box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in turner syndrome patientsry-hmg盒子帧转移突变马赛克从父亲那里继承的一种轻微的睾丸发育不全综合症特纳综合征患者.pdfVIP

Shahid et al. BMC Medical Genetics 2010, 11:131 /1471-2350/11/131 CASE REPORT Open Access A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient 1,3 2* 3 4 5 Mohammad Shahid , Varinderpal S Dhillon , Hesham Saleh Khalil , Shameemul Haque , Swaraj Batra , 4 6 Syed Akhtar Husain , LHJ Looijenga Abstract Background: Sex determining factor (SRY) located on the short arm of the Y chromosome, plays an important role in initiating male sex determination, resulting in development of testicular tissue. Presence of the SRY gene in females results in XY sex reversal and increased risk of gonadal germ cell tumours if the karyotype also includes the so-called GonadoBlastoma on the Y chromosome (GBY) region. The majority of mutations within the SRY gene are de novo affecting only a single individual in the family. The mutations within the high-mobility group (HMG) region have the potential to affect its DNA binding activity. Case Presentation: We performed G- and R-banding cytogenetic analysis of the patient and her family members including her father. We also performed molecular genetic analysis of SRY gene. Cytogenetic analysis in the patient (Turner Syndrome) revealed the mosaic karyotype as 45, X/46, XY (79%/21% respectively) while her father (milder features with testicular dysgenesis syndrome) has a normal male karyotype (46, XY). Using molecular approach, we screened the patient and her father for mutations in the SRY gene. Both patient and her father showed the same deletion of cytosine within HMG box resulting in frame shift mutation (L94fsX180), the father in a mosa