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Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.
The prevalence of LSD in Emiratis was 26.9/100,000 live births, and the prevalence of fucosidosis, Batten disease, and α-mannosidoses was 40-, sevenfold, and fourfold higher in UAE, respectively.
Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis
- P. Nair, A. R. Hamzeh, M. Mohamed, E. M. Malik, M. Al-Ali, F. Bastaki
- Biology, MedicineMetabolic Brain Disease
- 25 May 2016
The first Arab case of ECHS1 Deficiency is reported, and in-silico analysis suggests that the residue affected by this mutation may be involved in an important functional or structural role.
A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child
A case of a novel homozygous splice site mutation in the ECEL1 gene in a child with a phenotype consistent with distal arthrogryposis type 5D, born to consanguineous Emirati parents heterozygous for the novel ECel1 mutation.
Novel splice‐site mutation in WDR62 revealed by whole‐exome sequencing in a Sudanese family with primary microcephaly
A novel WDR62 variant is uncovered from two Sudanese siblings whose parents are first cousins who suffered MCPH2 with incomplete lissencephaly and developmental delay, and probably leads to aberrant splicing, which may result in a truncated protein lacking all functional domains.
Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report
Comparing the clinical picture of the herewith-reported individual with previously reported cases of MRD21, there seems to be many common symptoms, and few new ones that were not observed before, which helps to further define this rare condition and its molecular underpinnings.
A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa
- P. Nair, A. R. Hamzeh, E. M. Malik, Darshjit Oberoi, M. Al-Ali, F. Bastaki
- BiologyOman journal of ophthalmology
- 1 September 2017
The first known case of a pathological variant in the PDE6A gene from the Arabian Peninsula is described, caused by a novel mutation in PDE 6A, which completely removed the catalytic PDEase domain in the protein.
Single‐center experience of N‐linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs
A single‐center experience within a list of reported CDG mutations in the Arab world is integrated, accompanied by full molecular and clinical details pertaining to the studied cases, which sheds light on potential ethnic differences that were not noted before in regards to CDG in theArab world.
Novel SPG20 mutation in an extended family with Troyer syndrome
Clinical and molecular characterization of Troyer Syndrome in five patients from an extended consanguineous family in the United Arab Emirates revealed a novel homozygous missense mutation in SPG20 occurring at an evolutionarily conserved residue in the Plant-Related Senescence domain of Spartin.
Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome
It is necessary to select patients suitable for surgery on the basis of their prior history and quality of care, not just the number of procedures performed, but also the quality of the treatments provided.