A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient

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 mosaic pattern. Histological examination of the gonads from the patient revealed the presence of gonadoblastoma formation, while the father presented with oligoasthenozoospermia and a testicular seminoma. The frameshift mutation at this codon is novel, and may result in a mutated SRY protein.Conclusion: Our results suggest that lack of a second sex chromosome in majority cells of the patient may have triggered the short stature and primary infertility, and the mutated SRY protein may be associated with the development of gonadoblastoma. It is of importance to note that mosaic patients without a SRY mutation also have a risk for malignant germ cell tumors

A FUZZY BASED APPROACH FOR PRIVACY PRESERVING CLUSTERING

Abstract — Extracting previously unknown patterns from massive volume of data is the main objective of any data mining algorithm. In current days there is a tremendous expansion in data collection due to the development in the field of information technology. The patterns revealed by data mining algorithm can be used in various domains like Image Analysis, Marketing and weather forecasting. As a side effect of the mining algorithm some sensitive information is also revealed. There is a need to preserve the privacy of individuals which can be achieved by using privacy preserving data mining. In this paper, fuzzy based data transformation methods are proposed for privacy preserving clustering in database environment. In case one, a fuzzy data transformation method is proposed and various experiments are conducted by varying the fuzzy membership functions such as Z-shaped fuzzy membership function, Triangular fuzzy membership function, Gaussian fuzzy membership function to transform the original dataset. In case two, a hybrid method is proposed as a combination of fuzzy data transformation approach specified in case one and Random Rotation Perturbation (RRP). The experimental results proved that the proposed hybrid method yields good results for all the member functions which are used in case one