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genetic-predisposition
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Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13
, Article Journal of Human Genetics ; Volume 66, Issue 10 , 2021 , Pages 1009-1018 ; 14345161 (ISSN) ; Raza, S. I ; Anwar, M. Z ; Bharadwaj, T ; Liaqat, K ; Khokhar, M. A. S ; Everard, J. L ; Nasir, A ; Nickerson, D. A ; Bamshad, M. J ; Ansar, M ; Schrauwen, I ; Ahmad, W ; Leal, S. M ; University of Washington Center for Mendelian Genomics ; Sharif University of Technology
Springer Nature
2021
Abstract
Background: Wolfram syndrome (WFS) is characterized by deafness, diabetes mellitus, and diabetes insipidus along with optic atrophy. WFS has an autosomal recessive mode of inheritance and is due to variants in WFS1 and CISD2. Methods: We evaluated the underlying molecular etiology of three affected members of a consanguineous family with hearing impairment, bicuspid aortic valve, diabetes mellitus and insipidus, clinodactyly, and gastrointestinal tract abnormalities via exome sequencing approach. We correlated clinical and imaging data with the genetic findings and their associated phenotypes. Results: We identified a homozygous missense variant p.(Asn1097Lys) in CDK13, a gene previously...
Distribution of HLA alleles and genotypes in patients with chronic inflammatory demyelinating polyneuropathy
, Article Journal of Molecular Neuroscience ; Volume 72, Issue 3 , 2022 , Pages 574-584 ; 08958696 (ISSN) ; Akbari, M. T ; Houlden, H ; Mazdeh, M ; Nazer, N ; Rezaei, O ; Taheri, M ; Sayad, A ; Sharif University of Technology
Humana Press Inc
2022
Abstract
Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired immunological disorder. Although the precise pathoetiology of CIDP has not been clarified yet, it is believed that both B and T cells of immune system contribute in this disorder. Based on the importance of human leukocyte antigen (HLA) cluster in the regulation of immune responses, this family of proteins is putative determinants of risk of CIDP. We conducted the current investigation to appraise association between HLA alleles/genotypes/haplotypes and risk of CIDP in Iranian patients. HLA-DQB1*02 allele was significantly more prevalent among cases compared with controls (OR [95% CI] = 4.82 [2.06, 11.3], P value =...