A research team from Qassim University in Saudi Arabia has identified an extremely rare genetic disorder, Bethlem Myopathy, in a Saudi child, marking the first known case in the Arab world. This breakthrough sheds light on potential genetic risks associated with consanguineous marriages, emphasizing the importance of genetic studies within the Kingdom.

Groundbreaking Genetic Research in Saudi Arabia

Dr. Haitham Al Dhari, Assistant Professor and Senior Specialist in Medical Genetics at Qassim University, stated, “Our research team is dedicated to studying genetic diseases, with a particular focus on rare disorders.” Initially, the project aimed to study Duchenne muscular dystrophy in the Qassim region, with collaborative support from Dr. Hamdan Abu Al Bashar and the Deanship of Scientific Research.

The team identified a group of patients previously diagnosed with Duchenne muscular dystrophy, leading them to connect with a family whose case became the subject of a published scientific paper. One of four children in this family displayed symptoms like muscle weakness, movement difficulties, and delayed physical development.

Discovery of the Bethlem Myopathy Disorder

Upon examining the family, the team found that the youngest child was also beginning to show symptoms. They conducted a thorough study of the entire family, confirming the genetic nature of the disorder. In line with national policies on genetic research, the team performed genetic sequencing domestically in Saudi Arabia.

Challenges of Genetic Diagnosis

The research revealed that the initial diagnosis of Duchenne muscular dystrophy was incorrect. “Genetic muscle disorders often have overlapping symptoms,” explained Dr. Al Dhari. “For years, the family lived without knowing the exact cause of their child’s condition.”

Genetic Findings and Mode of Inheritance

Genetic testing indicated a mutation in the COL6A2 gene, the cause of Bethlem Myopathy. Of the children tested, two were affected—one carried the disorder, and the other was healthy. The research also uncovered a notable aspect related to inheritance patterns. Dr. Al Dhari noted, “This case, linked to consanguineous marriage, displayed a rare inheritance pattern uncommon in global records.”

Unique Inheritance Pattern in Saudi Arabia

Bethlem Myopathy is inherited in either a dominant or recessive manner. In this case, it was passed on through a recessive inheritance pattern, the most prevalent in Saudi Arabia due to higher rates of consanguinity.