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Α Β Γ Δ Ε Ζ Η Θ Ι Κ Λ Μ Ν Ξ Ο Π Ρ Σ Τ Υ Φ Χ Ψ Ω α β γ δ ε ζ η θ ι κ λ μ ν ξ ο π ρ σ τ υ φ χ ψ ω
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½ ⅓ ⅔ ¼ ¾ ⅛ ⅜ ⅝ ⅞ ¹ ² ³ ⁴ ⁿ ₁ ₂ ₃ ₄
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А Б В Г Д Е Ё Ж З И Й К Л М Н О П Р С Т У Ф Х Ц Ч Ш Щ Ъ Ы Ь Э Ю Я а б в г д е ё ж з и й к л м н о п р с т у ф х ц ч ш щ ъ ы ь э ю я
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      저자 : Obaid Ur Rahman (검색결과 2 건)
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        Two missense mutations in GPNMB cause autosomal recessive amyloidosis cutis dyschromica in the consanguineous pakistani families

        Obaid Ur Rahman,Jeena Kim,Caroline Mahon,Musharraf Jelani,강창수 한국유전학회 2021 Genes & Genomics Vol.43 No.5

        Background Amyloidosis cutis dyschromica (ACD) is a rare variant of cutaneous amyloidosis. This disorder often clusters in families, and it has been suggested that genetic factors might be involved in its development. Objective To identify the genetic causes of ACD, we recruited a consanguineous Pakistani family with multiple cases of ACD that display a recessive mode of inheritance. Methods We performed whole-exome sequencing of samples from 7 members of this family, followed by bioinformatic and in silico analyses to identify the causative variant. For the replication study, we recruited a British family with Pakistani ancestry, and sequenced all exons of glycoprotein non-metastatic melanoma protein b (GPNMB) to identify mutations. We also investigated efects of the mutations on the stability of the GPNMB protein using the I-TASSER three-dimensional modeling tool. Results We found a novel homozygous mutation, p.Gly363Val (c.1088 G>T), in GPNMB in all afected cases. In a replication study, another homozygous missense mutation in GPNMB, pIle174Met (c.522 C>G), was carried by the afected son. The two mutations were not observed in our in-house data set comprising 217 healthy Pakistani individuals or in The Genome Aggregation Database. Our structural modeling of GPNMB suggested that p.Gly363Val enhanced its stability, whereas p.Ile174Met caused instability. Conclusions This study reports two novel missense mutations in two Pakistani families that cause ACD. The mutations appear to infuence GPNMB stability, as revealed by protein modeling.

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        Whole-exome sequencing identifies a novel LRAT mutation underlying retinitis punctata albescens in a consanguineous Pakistani family

        Muhammad Naeem,전미연,Obaid Ur Rahman,Fazal Rahim,Muhammad Naeem,강창수 한국유전학회 2015 Genes & Genomics Vol.37 No.10

        Retinitis punctata albescens (RPA) is an ocular disease characterized by decreased visual acuity, night blindness, atropic maculopathy, and pigmentary retinopathy. Multiple genes have been linked to the etiology of RPA. In this study, we investigated the genetic causes of RPA in a consanguineous Pakistani family with multiple affected individuals. We performed whole-exome sequencing of seven family members, and screened variants co-segregating with RPA in recessive fashion. Bioinformatic and in silico analyses revealed that all affected individuals were homozygous for a novel mutation that substitutes glycine with arginine at position 66 (c.196 G[C) in exon 2 of the lecithin retinol acyltransferase (LRAT) that converts all-trans retinol to 11-cis retinal in the retinal pigment epithelium. This mutation was not present in 217 unrelated Pakistani control subjects nor in the Exome Aggregation Consortium database containing exome data from 60,638 individuals worldwide. Mutations in the LRAT gene were previously found from the patients with Leber congenital amaurosis and retinal dystrophy, however, we report first time that disruptions in this gene are also associated with RPA.

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