PMID- 37223137
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230525
IS  - 2168-8184 (Print)
IS  - 2168-8184 (Electronic)
IS  - 2168-8184 (Linking)
VI  - 15
IP  - 4
DP  - 2023 Apr
TI  - The Diagnosis and Genetic Mechanisms of Prader-Willi Syndrome: Findings From a 
      Moroccan Population Study.
PG  - e37866
LID - 10.7759/cureus.37866 [doi]
LID - e37866
AB  - Background Prader-Willi syndrome (PWS) is a complex genetic disorder caused by a 
      deficit in gene expression on the paternal inherited chromosome 15q11.2-q13. It 
      affects various aspects of growth and development, including feeding, cognitive 
      function, and behavior. Early diagnosis and management of PWS can significantly 
      improve outcomes for patients and their families. Methods In this study, we 
      analyzed a group of 29 clinically diagnosed patients suspected of PWS. All 
      patients were referred to the medical genetics and onco-genetics service for 
      genetic consultation and molecular analysis. We used DNA methylation analysis and 
      fluorescence in situ hybridization (FISH) to confirm the diagnosis and identify 
      the underlying genetic mechanisms. Results Our analysis showed that five out of 
      seven patients (71.43%) with a positive methylation-specific PCR (MSP) had 
      chromosomal deletion by FISH and presented major clinical signs summarized by 
      morbid obesity in 65.21% of cases and neonatal hypotonia in 42.85% of cases. This 
      finding indicates that paternal 15q11-q13 deletion is the most common genetic 
      mechanism involved in PWS. Conclusion The results of this study highlight the 
      importance of early diagnosis and molecular analysis in the management of 
      Prader-Willi syndrome. Our findings contribute to a better understanding of the 
      genotype-phenotype correlation in the Moroccan population and provide families 
      with a rigorous molecular diagnosis, relevant genetic counseling, and 
      multidisciplinary support. Further research is needed to explore the underlying 
      mechanisms of PWS and develop effective interventions to improve outcomes for 
      affected individuals.
CI  - Copyright (c) 2023, Ahakoud et al.
FAU - Ahakoud, Mohamed
AU  - Ahakoud M
AD  - Medical Genetics and Onco-Genetics Laboratory, Hospital University Hassan II, 
      Fez, MAR.
FAU - Daha Belghiti, Hanae
AU  - Daha Belghiti H
AD  - Medical Genetics and Onco-Genetics Laboratory, Hospital University Hassan II, 
      Fez, MAR.
FAU - Nedbour, Ayoub
AU  - Nedbour A
AD  - Medical Genetics and Onco-Genetics Laboratory, Hospital University Hassan II, 
      Fez, MAR.
FAU - Bouramtane, Abdelhamid
AU  - Bouramtane A
AD  - Medical Genetics and Onco-Genetics Laboratory, Hospital University Hassan II, 
      Fez, MAR.
FAU - Chaouki, Sana
AU  - Chaouki S
AD  - Pediatric Neurology, Hospital University Hassan II, Fez, MAR.
FAU - Bouguenouch, Laila
AU  - Bouguenouch L
AD  - Medical Genetics and Onco-Genetics Laboratory, Hospital University Hassan II, 
      Fez, MAR.
FAU - Ouldim, Karim
AU  - Ouldim K
AD  - Medical Genetics and Onco-Genetics Laboratory, Hospital University Hassan II, 
      Fez, MAR.
LA  - eng
PT  - Journal Article
DEP - 20230420
PL  - United States
TA  - Cureus
JT  - Cureus
JID - 101596737
PMC - PMC10202671
OTO - NOTNLM
OT  - fluorescence in situ hybridization (fish)
OT  - methyl-pcr
OT  - paternal 15q11-q13 deletion
OT  - prader-willi syndrome
OT  - syndromic mental retardation
COIS- The authors have declared that no competing interests exist.
EDAT- 2023/05/24 13:08
MHDA- 2023/05/24 13:09
PMCR- 2023/04/20
CRDT- 2023/05/24 11:43
PHST- 2023/04/19 00:00 [accepted]
PHST- 2023/05/24 13:09 [medline]
PHST- 2023/05/24 13:08 [pubmed]
PHST- 2023/05/24 11:43 [entrez]
PHST- 2023/04/20 00:00 [pmc-release]
AID - 10.7759/cureus.37866 [doi]
PST - epublish
SO  - Cureus. 2023 Apr 20;15(4):e37866. doi: 10.7759/cureus.37866. eCollection 2023 
      Apr.