Qassim University Researchers Discover Rare Genetic Disorder for First Time in Arab World
Researchers from Qassim University in Saudi Arabia have identified Bethlem Myopathy, a rare genetic disorder, for the first time in the Arab world. The team discovered the disorder in a Saudi child, highlighting the potential genetic implications of consanguineous marriages.
Localizing Genetic Sequencing Efforts
The research team conducted the genetic sequencing domestically, aligning with Saudi Arabia’s national policy to localize genetic testing. Dr. Haitham Al Dhari, assistant professor in Medical Genetics at Qassim University, explained the team’s focus on rare genetic disorders. “Our initial project aimed to study Duchenne muscular dystrophy in Qassim,” Dr. Al Dhari said. He collaborated with Dr. Hamdan Abu Al Bashar, with support from the university’s Deanship of Scientific Research.
The researchers first examined patients diagnosed with Duchenne muscular dystrophy, connecting with a family whose case led to a scientific publication. One of four children in the family showed muscle weakness, movement difficulties, and delayed physical activities. “During a family visit, we noted that the youngest brother also displayed symptoms,” Dr. Al Dhari said. The team expanded their study, which confirmed the disorder’s genetic nature.
Genetic Revelation and Diagnostic Challenges
The team’s research revealed an unexpected result: the child’s diagnosis of Duchenne muscular dystrophy was inaccurate. “Genetic muscle disorders often show overlapping symptoms,” Dr. Al Dhari noted. “For years, the family had no clarity on the child’s actual condition due to similar symptoms across various muscular diseases.”
The researchers discovered a mutation in the COL6A2 gene, confirming Bethlem Myopathy. Of the children examined, two had the disorder—one affected and the other healthy. Dr. Al Dhari added, “The case involved consanguineous marriage, suggesting an unusual inheritance pattern different from other global cases.”
Inheritance Patterns and National Insights
Bethlem Myopathy can be inherited in a dominant or recessive manner, meaning children may inherit one or two defective genes. This Saudi case was inherited through the recessive pattern, the most common in the country, often linked to consanguinity.
