Whole exome sequencing analysis identifies a missense variant in COL1A2 gene which causes osteogenesis imperfecta Type IV in a family from Saudi Arabia

Yaser M Alkhiary¹, Anum Ramzan², Muhammad Ilyas², Ubaidullah Khan², Abdul Nasir³, Muhammad I Khan⁴, Habib Ahmad⁵, Musharraf Jelani^6
1 Department of Oral and Maxillofacial Prosthodontics, Faculty of Dentistry, King Abdulaziz University, Jeddah, Saudi Arabia
² Centre for Human Genetics, Hazara University, Mansehra, Pakistan
³ Department of Molecular Science and Technology, Ajou University, Suwon, South Korea
⁴ Department of Zoology, Islamia College University, Peshawar, Pakistan
⁵ Centre for Human Genetics, Hazara University, Mansehra; Department of Zoology, Islamia College University, Peshawar, Pakistan
⁶ Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia

Correspondence Address:
Musharraf Jelani
Princess Al-Jawhara Albrahim Center of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah 21589
Saudi Arabia

Source of Support: None, Conflict of Interest: None

2

DOI: 10.4103/jmsr.jmsr_26_17