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Carrier Screening For Inherited Genetic Conditions
Published in Vincenzo Berghella, Obstetric Evidence Based Guidelines, 2022
Whitney Bender, Lorraine Dugoff
Sickle cell disease refers to a group of autosomal recessive disorders involving hemoglobin S. Hemoglobin S differs from hemoglobin A due to a single nucleotide substitution in the beta-globin gene on chromosome 11. The most severe form of sickle cell disease, sickle cell anemia, occurs in individuals with two copies of hemoglobin S. Sickle cell disorders can also occur in individuals who have hemoglobin S and another abnormality of B-globin structure or production such as hemoglobin C or beta-thalassemia. Sickle cell disease occurs most commonly in people of African origin. One in 12 African Americans has sickle cell trait. Patients with sickle cell disease are prone to distortion, or sickling, of their red blood cells under conditions of decreased oxygen tension. These distorted cells can result in increased viscosity, hemolysis, and anemia, resulting in interrupted blood supply to vital organs. These vasoocclusive crises can cause interruption of normal perfusion and function of several organs, including the spleen, lungs, kidney, heart, and brain. See Chap. 15 in Maternal-Fetal Medicine Evidence Based Guidelines.
Molecular Approaches Towards the Isolation of Pediatric Cancer Predisposition Genes
Published in John T. Kemshead, Pediatric Tumors: Immunological and Molecular Markers, 2020
Beckwith-Wiedemann syndrome is a condition involving somatic overgrowth.100,101 In a few cases, it is also associated with a chromosome abnormality involving the distal tip of chromosome 11.102,103 One of the features of this condition is that individuals often develop specific rare pediatric tumors, most frequently Wilms’ tumors, but also hepatoblastomas, rhabdomyosarcomas, adrenal adenocarcinomas, and non-Burkitt’s lymphoma. In some patients, combinations of these tumors have been reported, suggesting a common etiological event arising as a result of a mutation at the same locus. Koufos et al.104 analyzed three hepatoblastomas and showed that in two, homozygosity for chromosome 11 markers developed, while in a third tumor, heterozygosity was retained. There were similar findings in two rhabdomyosarcomas. Markers from other chromosomes were the same in tumor and normal tissues showing that loss of alleles was restricted to chromosome 11. Recently Haas et al.102 reported a patient with BWS who developed nephroblastoma and carried a constitutional chromosome deletion of region 11p11.1-p11.2. These studies suggest a common pathogenicity mechanism by these clinically associated tumor types. It is not clear whether the locus involved is the same or constitutes a complex of several genes in the same region of the chromosome. It does appear, however, that these genes contribute to the normal differentiation of the tissues involved.
Paediatric Urology
Published in Manit Arya, Taimur T. Shah, Jas S. Kalsi, Herman S. Fernando, Iqbal S. Shergill, Asif Muneer, Hashim U. Ahmed, MCQs for the FRCS(Urol) and Postgraduate Urology Examinations, 2020
Jemma Hale, Arash K. Taghizadeh
Which of the following is not related to increased risk of nephroblastoma?Abnormality of chromosome 11 qBeckwith-Wiedemann syndromeDenys-Drash syndromeWAGR syndromePerlman syndrome
Central retinal artery occlusion and subsequent amaurosis fugax in the contralateral eye associated with the G20210A prothrombin gene (F2) variant: a case report
Published in Ophthalmic Genetics, 2022
María Camila Sierra-Cote, Juliana Muñoz-Ortiz, Juan Sebastián Botero-Meneses, Carolina Saldarriaga-Santos, Natalia Camacho, William Rojas-Carabali, Alejandra de-la-Torre
Regarding the genetic component, one of the most common variants in the prothrombin gene (F2) is the G20210A. Prothrombin is a glycoprotein and precursor form of Factor II (thrombin), and it is essential for the final phase of clotting (5). It is encoded by the F2 gene located in the short arm of chromosome 11 (11p11.2). Variants in this gene, including polymorphisms and variants, may lead to thrombophilic disorders in many patients (6,7). Although the G20210A is an established risk factor for venous thrombosis, and it is debatable that this variant is a risk factor for arterial thromboembolism, some cases have been linked to myocardial infarction and cerebral arterial disease (8). In the case of ocular vessel occlusions, studies are scarce (9–12). This study aims to report the fourth case described in the literature of CRAO associated with prothrombin G20210A pathogenic variant and the first case with bilateral ocular findings (9–11), emphasizing the usefulness of OCT-A in reaching the diagnosis and establishing the specific and timely therapeutic measures.
Hereditary spherocytosis overlooked for 7 years in a pediatric patient with β-thalassemia trait and novel compound heterozygous mutations of SPTA1 gene
Published in Hematology, 2020
Min Chen, Yu-Ping Ye, Lin Liao, Xue-Lian Deng, Yu-Ling Qiu, Fa-Quan Lin
A gene mutation of the β-globin peptide chain synthesized on chromosome 11 causes a reduction or deletion in β-globin peptide chain synthesis that causes β-thalassemias [9]. Due to insufficient β-globin peptide chains, relatively abundant α-globin peptide chains polymerize and form inclusion bodies that bind to the erythrocyte membrane skeleton. This reduces deformability and renders erythrocytes vulnerable to oxidative damage, eventually leading to hemolytic and ineffective hematopoiesis [1]. The β-thalassemia gene mutation HBB:c.126 _129delCTTT was discovered in the proband at the age of 8 months, when it should have been an asymptomatic β-thalassemia trait. However, severe anemia developed around that time and monthly blood transfusions were required to maintain Hb levels. However, splenomegaly gradually developed. Splenectomy at the age of 3 years significantly improved the severe anemia. Laboratory findings of the proband upon admission to our hospital showed decreased MCV, MCH, and MSCV values, various sizes of mature erythrocytes in peripheral blood smears, and obvious target and spherical erythrocytes, and erythrocyte fragments. The results of erythrocyte osmotic fragility tests showed increased initial hemolysis, decreased complete hemolysis, a negative Coombs test, and normal G6PD activity. We considered that the proband had not only the β-thalassemia trait but also the hemolytic anemia, HS.
Clinical and genetic predictors of diabetes drug’s response
Published in Drug Metabolism Reviews, 2019
Adriana Fodor, Angela Cozma, Ramona Suharoschi, Adela Sitar-Taut, Gabriela Roman
Ataxia-telangiectasia mutated gene (ATM) Zhou et al. described for the first time how GWAS could be applied to the glycemic response to metformin (Zhou et al. 2011). In the Scottish participants from GoDARTS and UK patients from UKPDS a genome-wide association ‘signal’ on chromosome 11 has been reported in a locus containing seven genes. The minor C-allele of the most strongly associated SNP, rs11212617 increased the ability of metformin to achieve HbA1c below 7% with OR of 1.35 for each minor C-allele (allele frequency of 44%) and OR of 3.3 for two alleles (19% of the patients), compared with those without any variant. The authors suggested that the most likely candidate is the ATM gene, and the researchers have shown in vitro that ATM is involved in AMPK’s activation by metformin. The data have been replicated in a meta-analysis (van Leeuwen et al. 2012) and in a study on Chinese diabetic patients (Zhou et al. 2014). However, the association between rs11212617 variant and the incidence of diabetes might be confined to populations of European descent, as no association was observed in people of American ancestry, enrolled in DPP study (Florez et al. 2012). Moreover, it is a matter of debate if the ATM gene is the causal gene at this region, as the ATM inhibitor used in the in vitro studies, it has since been shown to inhibit OCT1 transport and prevent metformin uptake into hepatic cells (Woods et al. 2012).