Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families [0.03%]
全外显子测序强调了与约旦家族角膜营养不良相关的变化变异特性
Tawfiq Froukh,Ammar Hawwari,Khalid Al Zubi
Tawfiq Froukh
Background: Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. ...
A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report [0.03%]
一项有关严重凝血因子XIII缺乏症的新发现Cys328终止突变体病例报告
Ruimin Cai,Yi Li,Wenyang Wang et al.
Ruimin Cai et al.
Background: Factor XIII (FXIII) deficiency is an extremely rare bleeding disorder that is commonly due to mutations in the FXIIIA subunit gene (F13A1), and it has been reported to have a prevalence of one per 2 million. W...
A very early diagnosis of Alstrӧm syndrome by next generation sequencing [0.03%]
下一代测序对Alström综合征的极早期诊断
Leonardo Gatticchi,Jan Miertus,Paolo Enrico Maltese et al.
Leonardo Gatticchi et al.
Background: Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy,...
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study [0.03%]
骨桥蛋白启动子区基因多态性与尿石症发病风险的候选基因关联及 Meta 分析研究
Ali Amar,Ayesha Afzal,Athar Hameed et al.
Ali Amar et al.
Background: Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. ...
Meta-Analysis
BMC medical genetics. 2020 Aug 25;21(1):172. DOI:10.1186/s12881-020-01101-2 2020
Mutant POLQ and POLZ/REV3L DNA polymerases may contribute to the favorable survival of patients with tumors with POLE mutations outside the exonuclease domain [0.03%]
具有胞外酶域以外区域突变的POLE基因突变肿瘤患者可能由于变异的POLQ和POLZ/REV3L DNA聚合酶而获得良好的生存机会
Fangjin Huang,Hisashi Tanaka,Beatrice S Knudsen et al.
Fangjin Huang et al.
Background: Mutations in the exonuclease domain of POLE, a DNA polymerase associated with DNA replication and repair, lead to cancers with ultra-high mutation rates. Most studies focus on intestinal and uterine cancers wi...
Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome [0.03%]
全外显子测序揭示DGKE催化域中存在一个纯合变异新位点：一例家族溶血性尿毒症综合征报告
Soraya Gholizad-Kolveiri,Nakysa Hooman,Rasoul Alizadeh et al.
Soraya Gholizad-Kolveiri et al.
Background: Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS i...
Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome [0.03%]
全外显子测序在精子合成酶基因(SMS)中鉴定出与Snyder-Robinson综合征相关的新型突变
Talal J Qazi,Qiao Wu,Ailikemu Aierken et al.
Talal J Qazi et al.
Background: Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS ...
Adekunle Adekile,Jalaja Sukumaran,Diana Thomas et al.
Adekunle Adekile et al.
Background: The frequency of the alpha thalassemia trait is approximately 40% in the Kuwaiti population, but there has been no comprehensive study of the prevalent alleles. This is a report of patients who were referred f...
Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report [0.03%]
与CHILD综合征和并指有关的NSDHL基因新突变-一个病例报告
D Hettiarachchi,Hetalkumar Panchal,P S Lai et al.
D Hettiarachchi et al.
Background: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects also known as CHILD syndrome is an X-linked dominant, male lethal genodermatosis with a prevalence of 1 in 100,000 live births. Mutatio...
A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report [0.03%]
与新生儿丙酸血症相关的PCCA基因新型杂合子delins(c.773_819+47delinsAA)突变一例报告
Hai-Rong Wang,Yan-Qiu Liu,Xue-Lian He et al.
Hai-Rong Wang et al.
Background: Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes. ...