BMC Medical Genetics
Genetic variants in CYP4F2 were significantly correlated with susceptibility to ischemic stroke
Ischemic stroke (IS) is a serious cardiovascular disease and is associated with several single nucleotide polymorphisms (SNPs). However, the role of Cytochrome P450 family 4 subfamily F member 2 (CYP4F2) gene in ...BMC Medical Genetics 2019 20:155Published on: 11 September 2019BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center
Unique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region. Limited data are available for the Iraqi population. For many reas...BMC Medical Genetics 2019 20:154Published on: 5 September 2019The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts
Mutations in more than 52 genes have been identified in isolated congenital cataracts, the majority of which are located in crystalline and connexin (gap junction) genes. An in-frame one amino acid deletion in...BMC Medical Genetics 2019 20:153Published on: 5 September 2019Screening of 31 genes involved in monogenic forms of obesity in 23 Pakistani probands with early-onset childhood obesity: a case report
Consanguine families display a high degree of homozygosity which increases the risk of family members suffering from autosomal recessive disorders. Thus, homozygous mutations in monogenic obesity genes may be ...BMC Medical Genetics 2019 20:152Published on: 5 September 2019Genetic polymorphism in DGCR8 is associated with late onset of preeclampsia
PE (preeclampsia) is a heterogeneous disorder with early onset PE (EOPE) and late onset PE (LOPE) subtypes. Associations between maternal miRNAs biosynthesis genes polymorphisms and risk of PE have been previo...BMC Medical Genetics 2019 20:151Published on: 4 September 2019Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort
Genetic testing is becoming an essential tool for breast cancer (BC) diagnosis and treatment pathway, and particularly important for early detection and cancer prevention. The purpose of this study was to expl...BMC Medical Genetics 2019 20:150Published on: 2 September 2019Genetic basis of rotator cuff injury: a systematic review
Rotator cuff disease is a widespread musculoskeletal pathology and a major cause of shoulder pain. Studies on familial predisposition suggest that genetic plays a role in the pathogenesis of rotator cuff disea...BMC Medical Genetics 2019 20:149Published on: 2 September 2019Association of CYP gene polymorphisms with breast cancer risk and prognostic factors in the Jordanian population
Single nucleotide polymorphisms (SNPs) in several CYP genes have been associated with altered breast cancer (BC) risk in different populations. Despite this, there is a dearth of information on the roles of th...BMC Medical Genetics 2019 20:148Published on: 2 September 2019A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature
The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrom...BMC Medical Genetics 2019 20:147Published on: 29 August 2019Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report
Although Mitochondrial DNA depletion syndrome (MDS) can be classified into three forms: myopathic, encephalomyopathic and hepatocerebral form, it is difficult to identify its form due to its clinical heterogen...BMC Medical Genetics 2019 20:146Published on: 27 August 2019Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families
Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 g...BMC Medical Genetics 2019 20:145Published on: 23 August 2019MC4R variants rs12970134 and rs17782313 are associated with obese polycystic ovary syndrome patients in the Western region of Saudi Arabia
Polycystic ovary syndrome (PCOS) is a common endocrine disorder causing infertility in reproductive-age women. The cause of PCOS is not fully understood but it is thought to be influenced by environmental and ...BMC Medical Genetics 2019 20:144Published on: 20 August 2019Autoimmune Polyglandular Syndrome Type 1: a case report
Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome typ...BMC Medical Genetics 2019 20:143Published on: 16 August 2019Relationship between the rs2596542 polymorphism in the MICA gene promoter and HBV/HCV infection-induced hepatocellular carcinoma: a meta-analysis
Various studies have investigated the relationship between the polymorphism, rs2596542, in the promoter of the major histocompatibility complex class I-related gene A (MICA) gene with susceptibility to hepatitis ...BMC Medical Genetics 2019 20:142Published on: 16 August 2019Association of hypoxia-inducible factor-1α (HIF1α) 1790G/A gene polymorphism with renal cell carcinoma and prostate cancer susceptibility: a meta-analysis
This meta-analysis was performed to evaluate the relationship between hypoxia-inducible factor-1α (HIF1α) 1790G/A gene polymorphism and the susceptibility to renal cell carcinoma (RCC) and prostate cancer (PCa).BMC Medical Genetics 2019 20:141Published on: 16 August 2019Genetic variation in interleukin-7 is associated with a reduced erythropoietic response in Kenyan children infected with Plasmodium falciparum
Severe malarial anemia (SMA) is a leading cause of malaria-related morbidity and mortality in children. The genetic factors that influence development of SMA and inefficient erythropoiesis, a central pathogeni...BMC Medical Genetics 2019 20:140Published on: 16 August 2019Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) is the most common muscle disease in children, and there are no effective therapies for DMD or Becker Muscular Dystrophy (BMD). Currently, targeted gene therapy treatments hav...BMC Medical Genetics 2019 20:139Published on: 14 August 2019Novel reference genes in colorectal cancer identify a distinct subset of high stage tumors and their associated histologically normal colonic tissues
Reference genes are often interchangeably called housekeeping genes due to 1) the essential cellular functions their proteins provide and 2) their constitutive expression across a range of normal and pathophys...BMC Medical Genetics 2019 20:138Published on: 13 August 2019A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report
Bartter syndrome (BS) is a rare autosomal recessive disorder of salt reabsorption at the thick ascending limb of the Henle loop, characterized by hypokalemia, salt loss, metabolic alkalosis, hyperreninemic hyp...BMC Medical Genetics 2019 20:137Published on: 13 August 2019Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia
Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nat...BMC Medical Genetics 2019 20:136Published on: 9 August 2019Rapid detection of PAH gene mutations in Chinese people
Phenylketonuria (PKU) is an autosomal recessive genetic disease, caused by the phenylalanine hydroxylase (PAH) deficiency in the metabolic pathway, which prevents phenylalanine from being converted into tyrosi...BMC Medical Genetics 2019 20:135Published on: 5 August 2019De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by partial 4p deletion highly variable in size in individual patients. The core WHS phenotype is defined by the association of growth delay, ...BMC Medical Genetics 2019 20:134Published on: 5 August 2019Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family
Proximal symphalangism (SYM1; OMIM 185800), also called Cushing’s symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal join...BMC Medical Genetics 2019 20:133Published on: 1 August 2019Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated with c.223C > T p.(Leu75Phe) FOXL2 mutation: a case report
FOXL2 gene mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and may be associated with premature ovarian insufficiency (POI). Two types of BPES were described in the literature. BPES ty...BMC Medical Genetics 2019 20:132Published on: 31 July 2019Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report
CHEK2 is involved in the DNA damage repair response Fanconi anemia (FA)-BRCA pathway. An increased risk for breast and other cancers has been documented in individuals who carry a single pathogenic CHEK2 variant....BMC Medical Genetics 2019 20:131Published on: 26 July 2019Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report
Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders. The present study aimed to identify the genetic cause of a Chinese Han family with non-syndromic oculocutaneous albinism (O...BMC Medical Genetics 2019 20:130Published on: 25 July 2019Weak association between the interleukin-8 rs4073 polymorphism and acute pancreatitis: a cumulative meta-analysis
Several studies have been performed to investigate the associations between interleukin (IL)-8 rs4073 polymorphism and acute pancreatitis (AP), but the results are inconclusive. We conducted this cumulative me...BMC Medical Genetics 2019 20:129Published on: 24 July 2019A multivariable approach for risk markers from pooled molecular data with only partial overlap
Increasingly, molecular measurements from multiple studies are pooled to identify risk scores, with only partial overlap of measurements available from different studies. Univariate analyses of such markers ha...BMC Medical Genetics 2019 20:128Published on: 19 July 2019A novel CHD7 variant disrupting acceptor splice site in a patient with mild features of CHARGE syndrome: a case report
CHARGE syndrome (MIM# 214800)—which is characterised by a number of congenital anomalies including coloboma, ear anomalies, deafness, facial anomalies, heart defects, atresia choanae, genital hypoplasia, growt...BMC Medical Genetics 2019 20:127Published on: 17 July 2019New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report
Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatologic...BMC Medical Genetics 2019 20:126Published on: 16 July 2019Protein modeling to assess the pathogenicity of rare variants of SERPINA1 in patients suspected of having Alpha 1 Antitrypsin Deficiency
Alpha 1 Antitrypsin (AAT) is a key serum proteinase inhibitor encoded by SERPINA1. Sequence variants of the gene can cause Alpha 1 Antitrypsin Deficiency (AATD), a condition associated with lung and liver disease...BMC Medical Genetics 2019 20:125Published on: 15 July 2019Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report
The association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two u...BMC Medical Genetics 2019 20:124Published on: 12 July 2019Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients
Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative disease (1 per 100 000 newborns) caused by NPC proteins impairment that leads to unesterified cholesterol accumulation in late endosomal/lys...BMC Medical Genetics 2019 20:123Published on: 11 July 2019A novel frame-shift deletion in FANCF gene causing autosomal recessive Fanconi anemia: a case report
Fanconi anemia (FA) is a heterogeneous genetic disorder characterized by congenital anomalies, early-onset bone marrow failure, and a high predisposition to cancers. Up to know, different genes involved in the...BMC Medical Genetics 2019 20:122Published on: 9 July 2019Interaction between mitochondrial NADH dehydrogenase subunit-2 5178 C > A and clinical risk factors on the susceptibility of essential hypertension in Chinese population
The mitochondrial genotype 5178 cytosine/adenine (5178 C > A) within the NADH dehydrogenase subunit-2 gene (ND2) was proved to associate with longevity and predispose resistance to adult-onset diseases. This s...BMC Medical Genetics 2019 20:121Published on: 5 July 2019Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient
Diamond-Blackfan anemia (DBA), a congenital pure red cell aplasia (PRCA), is characterized by normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. DBA1...BMC Medical Genetics 2019 20:120Published on: 5 July 2019Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegi...BMC Medical Genetics 2019 20:119Published on: 4 July 2019SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct
Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also have a thyroid iodination defect that can lead t...BMC Medical Genetics 2019 20:118Published on: 2 July 2019Overexpression of MicroRNA-148b-3p stimulates osteogenesis of human bone marrow-derived mesenchymal stem cells: the role of MicroRNA-148b-3p in osteogenesis
Mesenchymal stem cells (MSCs) are attractive choices in regenerative medicine and can be genetically modified to obtain better results in therapeutics. Bone development and metabolism are controlled by various...BMC Medical Genetics 2019 20:117Published on: 1 July 2019Effect of prematurity on genome wide methylation in the placenta
Preterm birth is a significant clinical problem and an enormous burden on society, affecting one in eight pregnant women and their newborns. Despite decades of research, the molecular mechanism underlying its ...BMC Medical Genetics 2019 20:116Published on: 28 June 2019Rapid, low cost and sensitive detection of Calreticulin mutations by a PCR based amplicon length differentiation assay for diagnosis of myeloproliferative neoplasms
Calreticulin (CALR) gene mutations are currently recommended as biomarkers in diagnosis of patients with myeloproliferative neoplasms (MPN) with Jak2 V617F negative phenotype. Our aim was to establish a rapid, lo...BMC Medical Genetics 2019 20:115Published on: 27 June 2019DOCK8 mutation diagnosed using whole-exome sequencing of the dried blood spot-derived DNA: a case report of an Iraqi girl diagnosed in Japan
Dedicator of cytokinesis 8 (DOCK8) deficiency (MIM #243700) is a rare disease, leads to a combined primary immunodeficiency (PID), and accounts for the autosomal recessive-hyper immunoglobulin E syndrome (AR-H...BMC Medical Genetics 2019 20:114Published on: 26 June 2019
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