Detection of New Genetic Mutations Responsible for Hereditary Diseases in Arab Children

Abu Dhabi, – The Centre for Arab Genomic Studies (CAGS), affiliated with the Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences, has announced that the joint research project between CAGS and Latifa Hospital, affiliated with Dubai Health Au…

Abu Dhabi, – The Centre for Arab Genomic Studies (CAGS), affiliated with the Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences, has announced that the joint research project between CAGS and Latifa Hospital, affiliated with Dubai Health Authority, has revealed links between 12 hereditary rare diseases among Arab children and 16 new genetic mutations in 14 genes.

This was included in 13 scientific research studies conducted on a group of 20 patients from the UAE, Jordan, Sudan, and Yemen, and recently published in a number of international peer-reviewed PubMed-indexed journals.

Director of CAGS Dr Mahmoud Taleb Al Ali praised the fruitful cooperation between the Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences and the Dubai Health Authority. “The concerted efforts by clinical geneticists, from Latifa Hospital, and Geneticists, from the Centre for Arab genomic studies, is the main reason behind the success of this important scientific project, as it is expected to play a vital role in the completion of the Arab Genome”.

“This valuable scientific project boosts efforts exerted for the early detection of rare genetic diseases, and for finding out effective treatment for them. These serious disorders usually appear after birth, and can deteriorate quickly and may lead to death at an early age”, he added.

Dr Fatima Bastaki, Consultant Pediatrician and Clinical Geneticist, Latifa Hospital, spoke about the results of this research project, and mentioned the genetic mutation, which has been discovered in the INSR gene as a cause of the Rapson-Mendenhall syndrome. Among the symptoms of this syndrome is early-onset diabetes in children, with very high resistance to insulin, along with skin deformities, short stature and muscle weakness, according to WAM, Emirates News Agency.

“As for the mutation discovered in CDKN1C gene, it leads to Beckwith-Weidmann syndrome, a disorder with asymmetrical overgrowth in the patients’ body organs and increased risk of cancer”.

Dr Bastaki added, “The study discovered a new mutation in the SOX18 gene which leads to hypertrichosis-lymphedema-telangiectasia syndrome. Patients with this syndrome have spider veins, lose their hair, and suffer from edema in their lower limbs”.

Senior scientific coordinator at CAGS Dr Abdul Rezzek Hemzeh, said, “Novel genetic mutations have been discovered in both ECEL1 and CHRNG genes and these result in congenital arthrogryposis. Affected children suffer a number of musculoskeletal deformities such as contractures of knees and elbows”. As for the previously unreported mutation in FGD1 gene, it leads to the Aarskog-Scott syndrome. Among the symptoms of this syndrome is mental retardation, congenital malformations of the face and muscular system, along with short stature”.

“The study revealed a link between Marinesco-Sjogren syndrome and a novel mutation in the SIL1 gene, which leads to muscles weakness, inability to control body movement, mental retardation, and cataracts”.

“A novel mutation in the PNKP gene leads to dwarfism with microcephaly, and mental disability. As for the novel mutation discovered in ECHS1 gene, it leads to delayed mental and motor growth, muscle weakness, as well as heart disease”.

Dr Hemzeh added, “As for the autosomal recessive congenital ichthyosis cases, our studies showed the causality of 4 novel genetic mutations in TGM1, ABCA12, and ALOX12B genes. Among the symptoms of the disease are severe dryness and cracking of the patient’s skin, as well as many other skin disorders”. (QNA)

Source: Qatar News Agency