Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital...

Area of Science:

• Genetics
• Medical Genetics
• Genomic Medicine

Background:

• Array comparative genomic hybridization (Array-CGH) is a primary method for detecting copy number variations (CNVs).
• Limited data exists on the genetic causes of developmental delay/intellectual disability and congenital malformations in East Africa.
• Congenital abnormalities and developmental disorders are significant health concerns globally.

Purpose of the Study:

• To investigate the genetic etiology of developmental delay/intellectual disability and congenital malformations in Rwandan patients using Array-CGH.
• To determine the prevalence and spectrum of copy number variations in this patient cohort.
• To assess the utility of genetic testing in East African populations.

Main Methods:

• Array comparative genomic hybridization (Array-CGH) was performed on 50 Rwandan patients.
• The Agilent 180K microarray platform was utilized for high-resolution analysis.
• Patients presented with a combination of global development delay, intellectual disability, and multiple congenital abnormalities.

Main Results:

• 28% of patients had global development delay, and 72% had intellectual disability.
• Clinically significant copy number variations (CNVs) were identified in 26% of patients (13 out of 50).
• CNVs ranged from 0.9 Mb to 34 Mb, with 6 patients having CNVs linked to known syndromes and 7 presenting rare genomic imbalances.

Conclusions:

• Copy number variations (CNVs) are a relevant genetic factor in the East African population.
• The findings underscore the importance of implementing genetic testing services in East African countries.
• Array-CGH is a valuable tool for diagnosing genetic disorders in diverse populations.