Genetics of Prader Willi Syndrome

Table of contents:

Conclusion:

PWS is a complex disorder with variable phenotypic changes according to the age of the

patient. There are numbers of Associations and Support groups are working together to

give a better management to the PWS individuals e.g. Prader Willi Syndrome Association

(UK) and PWSA (USA) etc. Researches are still in progress in all concerned parts of

medical sciences throughout the world. According to Stankiewicz and Lupski (2002)

UBE3A gene has been recognized as a deletion in case of Angelman Syndrome, for PWS

it is still a question mark. There are a lot of work has been done on SNURF-SNRPN gene

which indicates involvement in most of the cases of PWS. In a very recent microarray

analysis Bittel et al. (2003) analyzed 73 transcripts from the 15q11-q13 region in

lymphoblastoid cell lines and observed different biallelic expression considering

individuals with PWS caused by either deletion or UPD in comparison of controls.

Hopefully, with the help of more elaborated ideas on imprinting, UPD, deletion and

further studies of human genetics, and advances in its technologies, could give a better

understanding on the particular disease.

Considerable steps have been taken in past 20 years to understand the symptoms, to

understand the recurrence, to understand the mutation and its inheritance, and to enable

PWS individuals healthy and happy, but still a very handful information has been

gathered and much more has to be done.