February 28, 2014

Rare Disease Day

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16 new genetic mutations are identified as causative of 12 hereditary rare diseases among Arab children

Dr Mahmoud Taleb Al Ali, the Director of the Centre for Arab Genomic Studies (CAGS), affiliated with Sheikh Hamdan Bin Rashid Al Maktoum Award for Medical Sciences, 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.

In this context, 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. He said: “The concerted efforts by clinical geneticists, from Latifa Hospital, and Geneticists, from the Center 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”.

He added, “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”.

On the other hand, 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.

“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 that: “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”.

“An additional cause of microcephaly was also uncovered, namely, a novel mutation in the WDR62 gene. Patients with this syndrome have small head and brain, with mental disability”.

“As for the novel mutation discovered in GPSM2 gene, it leads to Chudley-McCullough syndrome, which involves deafness, skull deformities, and accumulation of fluid inside the brain”.

“Regarding the alpha-thalassemia X –linked intellectual disability syndrome, it affects males more than females, and may occur as a result of a mutation in ATRX gene. Among the symptoms of this syndrome in children, are severe developmental disability, speech delay, muscle weakness, birth defects, and thalassemia”.

Dr. Abdul Rezzek Hemzeh, Senior scientific coordinator, CAGS, continued talking about the results of the scientific project conducted under the collaborative work between CAGS and Latifa Hopital. He 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-Sjögren 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”.

It is worth mentioning that since March 2015, CAGS has started working on this ambitious scientific project, in collaboration with Latifa Hospital in Dubai. Over the next few months, new genetic mutations and their relationship with many hereditary diseases in Arab children are expected to be revealed.