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Consanguinity and reproductive health among Arabs
- G. Tadmouri, P. Nair, T. Obeid, M. T. Al Ali, Najib Al Khaja, H. Hamamy
- MedicineReproductive health
- 8 October 2009
Data on genetic disorders in Arab populations as extracted from the Catalogue of Transmission Genetics in Arabs (CTGA) database indicate a relative abundance of recessive disorders in the region that is clearly associated with the practice of consanguinity.
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.
a study in pleiotropy - Jalili syndrome
A role for the CNNM4 protein in metal ion transport and homeostasis and especially in the transport of magnesium ions is postulate and it is shown that mutations localized to the transmembrane domain of this protein result in more severe phenotypes of the syndrome, indicating an important function for this domain.
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.
COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants
A girl, born to first-cousin Lebanese parents, with severe intellectual disability, congenital hip luxation, cardiac malformation, short stature, facial dysmorphic features, and elevated lactate and pyruvate levels in serum is reported.