ISCA2

This website provides information on patients with mutations in the ISCA2 gene, including clinical data, molecular data, management and research options.

Mutations in ISCA2 gene cause multiple mitochondrial dysfunctions syndrome 4, characterized by leukodystrophy, optic atrophy, nystagmus, hypotonia with spasticity and neurodevelopmental regression.

Not all individuals with a mutation in ISCA2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ISCA2 gene.

Dr. Namik Kaya, PhD, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, nkaya@kfshrc.edu.sa

Dr. Zuhair AlHassnan, Consultant, MD ABP ABMG, Prof. of Genetics, College of Medicine, Alfaisal University and Chairman, National Strategic Committee for Genetic Diseases, Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, zhassnan@kfshrc.edu.sa

Dr. Mazhor S. Aldosary, PhD, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, MazhorD@kfshrc.edu.sa

Dr. Dilek Colak, PhD, Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, dkcolak@gmail.com

Rawan Almass, MSc, Genetic Counselor, Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, ralmass@kfshrc.edu.sa

Maysoon Alsagob, MSc, Researcher, Center of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia, malsagob@kacst.edu.sa

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