Skip to main content
  Sign In   Register

ePoster Presentations Proceedings »

Application of advanced molecular technologies in revealing the etiology of intellectual disability – clarification or more questions

Objectives: Recent advances of molecular technologies helped in elucidating the etiology of intellectual disability (ID) in many patients. Therefore, the proportion of undiscovered cases with developmental delay is being constantly reduced. There is no standardized approach for genetic work-up in many countries. Sometimes several molecular techniques are used, with biased results. Methods: comparison of different molecular techniques in detecting apposite cause of intellectual disability Results: We describe 4 patients with moderate/severe motor and mental delay, early developmental milestones and dysmorphic appearance. Additional findings such as epilepsy has been established in one; congenital hypothyroidism in the second child; hydrocephaly and growth hormone deficiency in third; and breeding difficulties in the fourth child. Both array CGH and WES were performed in all. The methods confirm causative changes for ID in the first case (microdeletion of 14q11.2, 16p11.2 and additional variant in PARS2 gene), CNV analysis confirmed microdeletion (18p11.32 and 10q26) in other two patients consistent with their phenotype, where WES confirmed mutation in genes that could explain additional findings not associated with the ID; in the fourth case microdeletion (2q22.1) with additional mutation on the second allele of HNMT gene was found. Conclusion: Over the last several years implementation of several molecular methods broaden the spectrum of detected causes for ID. However, uncertainty remains in some cases what is the actual causative variant when having the positive result from both techniques. Meticulous clinical assessment is needed to evaluate the accurate diagnosis. Collaboration between clinicians and laboratory is obligatory in this process.
Keywords: intellectual disability, WES, array CGG, phenotype

Elena Sukarova-Angelovska
University Pediatric Clinic
North Macedonia

Slavica Trajkova
University of Turin
Italy

Dragica Nestoroska
University Pediatric Clinic
North Macedonia

Natalija Angelkova
Acibadem Sistina
North Macedonia

Aneta Demerdzieva
Acibadem Sistina
North Macedonia

Lejla Kazanoska-Muaremoska
University Pediatric Clinic
North Macedonia

 

 


®2002-2021 ICNApedia