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King Fahad Medical City

Media Center / . / Consultant: A Genetic Code Match the Existence of Rare Genetic Disease in the Southern Region of KSA

Consultant: A Genetic Code Match the Existence of Rare Genetic Disease in the Southern Region of KSA

7/26/2018 12:00 AM

Dr. Eissa Ali Faqeih, Medical Genetic and Children Congenital Malformations Consultant and Head of Clinical Research Department at  King Fahad Medical City, revealed that KFMC has identified a complete match between the Mendelian versions or the genetic mutation of the KCTD3 gene in four different families. They are completely similar in the genetic code with another Saudi family which has been subjected to a genetic examination and confirmed these identical results; this disease is hereditary and exists in KSA, and may affect families particularly in the southern region of KSA.

 "We found 4 other families with the same genetic symptoms of the previous case, in which we found the new and potential gene two years ago. The symptoms are a severe neurological disability, a complete cerebral palsy of the mobility limbs and mental with severe epileptic seizures, and similarity in the facial and limbs appearances; A CT scan of the brain for all affected children has been reviewed and compared with the main case previously published in the American Journal of Medical Genetics in 2016. It is revealed that there is a typographic matching in severe cerebellar atrophy of all newly discovered children and families. By a mutual effort with the Molecular Genetics Laboratory at KFMC, the accurate genetic tests of the gene were conducted and the mutation was found accurately", Dr. Faqeih said.

"In 2016, we examined a Saudi family consisting of a father, a mother and three children who suffer from severe physical, mental and mobility disabilities, with incurable epileptic seizures. The brain CT scan also showed that the brainstem was affected and expanded in its cavities, with severe atrophy in the cerebellum and cerebral cortex. Unfortunately, this family did not have a genetic diagnosis while all the extensive genetic tests were intact; however, the existence of three affected children with direct kinship between the spouses is a clear indication that the disease is hereditary; therefore, there must be an unknown gene and it must be found by any means; whether by diagnosis or research. The exome sequencing screening (micro genome) was conducted by diagnostically and research and with the participation of the Research Center in the King Faisal Specialist Hospital, and a possible gene which is KCTD3 is found. It is an unknown gene that has never been published; making the case ambiguous since it is the only one in the world. It can not be confirmed yet that it caused the genetic disease; and therefore we waited two years later to find other families and ascertain that this gene is causing the problem. Thus, we have reviewed the genetic database and conducted a survey of more than 400 Saudi families, and the complete genome was examined in KFMC until the four families were reached", he added.

The results of the study showed that this gene is widespread in the southern region of KSA. It is a very rare neurological hereditary disease, causing a severe epileptic and mobility disorder and mental retardation with severe atrophy in the brain, cerebrum, and pigmentations in the brain layers.

 "After the discovery of this gene, the four families were communicated and informed about the results of this examination, the detailed genetic counseling was conducted in order to enable them to avoid this disease in the future; pointing out that the families are currently being followed up in KFMC, and there are two out of these four families were sent to the Women Specialized Hospital for pregnancy, fetus screening and ensure that the fetus is free of the genetic code of the gene "KCTD3"; thus, avoid this disease to occur", Dr. Faqeih confirmed.

 "Research results showed that marriage between relatives is one of the strongest