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731 Prader Willi Syndrome (PWS) - Particular Molecular Profile and Diagnostic Protocol in Romania
  1. IE Jurca- Simina1,
  2. M Gafencu1,
  3. D Dan2,
  4. M Puiu3
  1. 1Paediatrics, University of Medicine and Pharmacy, Timisoara
  2. 2President of Romanian Prader Willi Association, Zalau
  3. 3Genetics, University of Medicine and Pharmacy, Timisoara, Romania

Abstract

Background and Aims PWS-a rare genetic disease with a 1/12000–1/15000 newborns frequency, caused by deletion of some genes on paternal origin or maternal disomy of 15’th chromosome. Main clinical manifestations are: neonatal hypotonia, excessive childhood feeding, obesity, cognitive deficiencies. Our aims are to implement molecular genetic/epigenetic tests and to develop interdisciplinary clinical research protocol, which allow early diagnostic and intervention in Romania.

Materials and Methods This study is part of a multicenter research project (CNMP/Partnerships, 2008–2011), on 19 Romanian PWS patients, 12 females, 7 males, between 6 months and 29 years. For diagnostic, were used major and minor criteria (Gunay-Aygun) as clinical methods and 5 genetic tests.

Results All patients have a clinical diagnostic score above 5, 63% of them having a maximal major criteria number with 100% neonatal hypotonia, 95% feeding difficulties at infants and hyperphagia after and a BMI till 60.2kg/cm2. 15% of patients have all minor criteria positive, with lethargy at infants, viscous saliva and small extremities predominance. 5% of patients have a positive 15q11–q13 microdeletion, 79% a FISH positive and for 47% patients MS-PCR is positive. Techniques like MS-MLPA were late introduced in Romania, 20% of our patients having them.

Conclusions The study indicates a relative correlation between clinical score and cytogenetic/molecular PWS confirmation and emphasizes the importance of early diagnostic. Interdisciplinary clinical criteria, karyotype, FISH and methylation analysis (MS-PCR, MS-MLPA) are the main steps for a successful diagnostic protocol. Genetic tests results show a particular molecular profile in Romania with only 47% positive methylation results unlike literature (99%).

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