Ali Awaji

King Fahad Hospital Medina La Munawarah Kingdom Of Saudi Arabia, Al Madīnah al Munawwarah, Al Madīnah, Saudi Arabia

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Publications (3)12.43 Total impact

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    ABSTRACT: Background: Intellectual disability (ID) is one of the most common forms of disability worldwide, displaying a wide range of aetiologies and affecting nearly 2% of the global population. Objective: To describe a novel autosomal recessive form of ID with strabismus and its underlying aetiology. Materials and methods: Autozygosity mapping, linkage analysis and exome sequencing were performed in a large multiplex consanguineous family that segregates ID and strabismus. Exome sequencing was independently performed in three other consanguineous families segregating the same disease. Direct sequencing of the resulting candidate gene was performed in four additional families with the same phenotype. Results: A single missense mutation was identified in ADAT3 in all studied families on an ancient ancestral haplotype. This gene encodes one of two eukaryotic proteins that are necessary for the deamination of adenosine at position 34 to inosine in t-RNA. Our results show the first human mutation in the t-RNA editing machinery and expand the landscape of pathways involved in the pathogenesis of ID.
    Journal of Medical Genetics 04/2013; 50(7). DOI:10.1136/jmedgenet-2012-101378 · 6.34 Impact Factor
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    ABSTRACT: Al-Owain M, Wakil S, Shareef F, Al-Fatani A, Hamadah E, Haider M, Al-Hindi H, Awaji A, Khalifa O, Baz B, Ramadhan R, Meyer B. Novel homozygous mutation in DSP causing skin fragility–woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes. Desmoplakin is an important cytoskeletal linker for the function of the desmosomes. Linking desmoplakin to certain types of cardiocutaneous syndromes has been a hot topic recently. Skin fragility–woolly hair syndrome is a rare autosomal recessive disorder involving the desmosomes and is caused by mutation in the desmoplakin gene (DSP). We report five members from a large family with skin fragility–woolly hair syndrome. The index is a 14-year-old girl with palmoplantar keratoderma, woolly hair, variable alopecia, dystrophic nails, and excessive blistering to trivial mechanical trauma. No cardiac symptoms were reported. Although formal cardiac examination was not feasible, the echocardiographic evaluation of the other two affected younger siblings was normal. Homozygosity mapping and linkage analysis revealed a high LOD score region in the short arm of chromosome 6 that harbors the DSP. Full sequencing of the DSP showed a novel homozygous c.7097 G>A (p.R2366H) mutation in all affected members, and the parents were heterozygous. This is the report of the third case/family of the skin fragility–woolly hair syndrome in the literature. We also present a clinical and molecular review of various desmoplakin-related phenotypes, with emphasis on onset of cardiomyopathy. The complexity of the desmoplakin and its variable presentations warrant introducing the term ‘desmoplakinopathies’ to describe all the phenotypes related to defects in the desmoplakin.
    Clinical Genetics 07/2011; 80(1):50-8. DOI:10.1111/j.1399-0004.2010.01518.x · 3.93 Impact Factor
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    ABSTRACT: Bruck syndrome (BS) is an autosomal recessive syndromic form of osteogenesis imperfecta (OI) that is characterized by the additional presence of pterygium formation. We have recently shown that FKBP10 previously reported as a novel autosomal recessive OI gene also defines a novel Bruck syndrome locus (BKS3). In this manuscript, we extend our analysis to describe a mutation previously described in isolated OI patients and show that it results in BS phenotype in a Saudi family. More interestingly, we describe a novel FKBP10 mutation that results in isolated OI as well as BS phenotype in the same family. These results, combined with recently published work, confirm that FKBP10 is a bonafide BS locus and lay the foundation for future research into modifiers that underlie the phenotypic heterogeneity of FKBP10 mutations.
    American Journal of Medical Genetics Part A 06/2011; 155A(6):1448-52. DOI:10.1002/ajmg.a.34025 · 2.16 Impact Factor