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https://www.readbyqxmd.com/read/28930842/type-4b-hereditary-hemochromatosis-associated-with-a-novel-mutation-in-the-slc40a1-gene-a-case-report-and-a-review-of-the-literature
#1
Wei Zhang, Tingxia Lv, Jian Huang, Xiaojuan Ou
RATIONALE: Hereditary hemochromatosis can be divided into HFE- and non-HFE-related based on genetic mutations in different genes. HFE-related hemochromatosis is the most common inherited genetic disease in European populations but rare in Asia-pacific region. Recently, non-HFE-related hemochromatosis has been reported in patients from the Asian countries. PATIENT CONCERNS: We report the case of a 48-year-old Chinese Han woman who presented with abnormal liver function, diabetes mellitus, hyperferritinemia, and high transferrin saturation, with severe iron overload in parenchymal cells, Kupffer cells, and periportal fibrosis on liver biopsy...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28929227/genetic-predisposition-in-children-with-cancer-affected-families-acceptance-of-trio-wes
#2
Triantafyllia Brozou, Julia Taeubner, Eunike Velleuer, Martin Dugas, Dagmar Wieczorek, Arndt Borkhardt, Michaela Kuhlen
A considerable percentage of childhood cancers are due to cancer predisposition syndromes (CPS). The ratio of CPSs caused by inherited versus de novo germline mutations and the risk of recurrence in other children are unknown. We initiated a prospective study performing whole-exome sequencing (WES) of parent-child trios in children newly diagnosed with cancer. We initially aimed to determine the interest in and acceptance of trio WES among affected families and to systematically collect demographic, medical, and family history data to analyze whether these point to an underlying CPS...
September 19, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28928995/acute-unilateral-renal-infarction-in-the-setting-of-an-inherited-thrombophilia-and-atrial-septal-defect
#3
Siavash Piran, Sam Schulman
We present a case of renal infarction in a 43-year-old female with history of stroke at age 14. She was found to be heterozygous for the prothrombin G20210A gene mutation. Loop monitoring revealed no atrial fibrillation. Transthoracic and transesophageal echocardiograms showed no thrombus. However, there was a small shunt due to an atrial septal defect (ASD). She was treated with warfarin and had device closure of her ASD. This was a suspected case of paradoxical embolism through an ASD leading to renal infarction...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28927429/the-impact-of-lipoprotein-lipase-deficiency-on-health-related-quality-of-life-a-detailed-structured-qualitative-study
#4
Sasi Neelamekam, See Kwok, Rachel Malone, Anthony S Wierzbicki, Handrean Soran
BACKGROUND: Lipoprotein lipase deficiency (LPLD) is an autosomal recessive inherited disorder caused by loss-of-function mutations in genes involved in the lipoprotein lipase pathway. It is characterised by chylomicronaemia, severe hypertriglyceridaemia and an increased risk of recurrent pancreatitis that often requires hospitalisation. This research aimed to improve our understanding of the debilitating impact that LPLD has on the daily lives of patients and their families. METHODS: The research comprised a 2-h interview with the patient and, where possible, a 1-h interview with a family member; a 1-week pre- and post-interview task (written and/or video diary); and a 30-45-min follow-up telephone interview...
September 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28927256/comparison-of-as-pcr-crs-pcr-and-pcr-pira-methods-used-for-screening-cvm-carriers-in-holstein-cattle
#5
Kozet Avanus, Ahmet Altinel
Complex vertebral malformation (CVM) is an inherited and autosomal recessive disorder of Holstein cattle. The aim of this study was comparing sensitivity, specificity, positive and negative predictive values, accuracy and rapidity of three methods; allele specific PCR (AS-PCR), created restriction site PCR (CRS-PCR) and PCR with primer introduced restriction analysis (PCR-PIRA) that were used in identification of CVM carriers in Holstein cattle population. In order to screen G>T mutation in solute carrier family 35 member A3 (SLC35A3) gene DNA sequencing was used as gold standard method...
September 20, 2017: Journal of Veterinary Science
https://www.readbyqxmd.com/read/28927238/factor-v-leiden-is-associated-with-increased-sperm-count
#6
T E van Mens, U N Joensen, Z Bochdanovits, A Takizawa, J Peter, N Jørgensen, P B Szecsi, J C M Meijers, H Weiler, E Rajpert-De Meyts, S Repping, S Middeldorp
STUDY QUESTION: Is the thrombophilia mutation factor V Leiden (FVL) associated with an increased total sperm count? SUMMARY ANSWER: Carriers of FVL have a higher total sperm count than non-FVL-carriers, which could not be explained by genetic linkage or by observations in a FVL-mouse model. WHAT IS KNOWN ALREADY: FVL has a high prevalence in Caucasians despite detrimental health effects. Carriers have been shown to have higher fecundity, which might partly explain this evolutionary paradox...
September 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28926334/family-phenotypic-heterogeneity-caused-by-mitochondrial-dna-mutation-a3243g
#7
Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
Maternally inherited diabetes and deafness is a rare form of diabetes caused by a mitochondrial DNA mutation. The index case is a 55-year-old woman who was admitted with hypertrophic cardiomyopathy. She had a history of diabetes mellitus and hearing loss. The patient's mother, two brothers and two sisters also had a history of diabetes and hearing loss. This pattern suggests a maternally inherited disorder. All siblings carried the A3243G mitochondrial DNA mutation. The identification of people with monogenic forms of diabetes mellitus is a diagnostic challenge...
August 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28925365/generation-of-an-induced-pluripotent-stem-cell-ipsc-line-from-a-patient-with-maturity-onset-diabetes-of-the-young-type-13-mody13-with-a-the-potassium-inwardly-rectifying-channel-subfamily-j-member-11-kcnj11-mutation
#8
Frank Griscelli, Olivier Feraud, Tony Ernault, Noufissa Oudrihri, Ali G Turhan, Amélie Bonnefond, Philippe Froguel, Annelise Bennaceur-Griscelli
Heterozygous activating mutation (p.Glu227Lys) in KCNJ11 leads to maturity-onset diabetes of the young (MODY) type 13, that is a subtype of dominant inherited young-onset non-autoimmune diabetes due to a primary defect in pancreatic beta cells. We generated induced pluripotent stem cells (iPSCs) from a patient with KCNJ11(p.Glu227Lys) mutation who developed MODY at 13years old. KCNJ11(p.Glu227Lys)-mutated cells that were reprogrammed by non-integrative viral transduction had normal karyotype, harboured the KCNJ11(p...
August 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28924487/a-novel-stop-mutation-p-gln22-of-dax1-nr0b1-results-in-late-onset-x-linked-adrenal-hypoplasia-congenita
#9
Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner, Marcus Quinkler
DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. However, patients with a late-onset form of X-linked AHC have also been described in the past years...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28924445/the-first-argentinian-family-with-familial-amyloidosis-of-the-finnish-type
#10
Francisco Lucero Saá, Federico Andrés Cremona, Natalia Ximena Mínguez, María Laura Igarzabal, Pablo Chiaradía
Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumulates in tissues and leads to various signs. Obtaining an early diagnosis can be challenging, as the first manifestations of the disease are ophthalmological and may only be seen with slit-lamp biomicroscopy. We present the first 3 cases diagnosed in Argentina, confirmed by genetic molecular testing...
May 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28923933/longitudinal-identification-of-clinically-distinct-neurophenotypes-in-young-children-with-fragile-x-syndrome
#11
Jennifer L Bruno, David Romano, Paul Mazaika, Amy A Lightbody, Heather Cody Hazlett, Joseph Piven, Allan L Reiss
Fragile X syndrome (FXS), due to mutations of the FMR1 gene, is the most common known inherited cause of developmental disability. The cognitive, behavioral, and neurological phenotypes observed in affected individuals can vary considerably, making it difficult to predict outcomes and determine the need for interventions. We sought to examine early structural brain growth as a potential marker for identification of clinically meaningful subgroups. Participants included 42 very young boys with FXS who completed a T1-weighted anatomical MRI and cognitive/behavioral assessment at two longitudinal time points, with mean ages of 2...
September 18, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28923333/buccal-cell-micronucleus-frequency-is-significantly-elevated-in-patients-with-spinocerebellar-ataxia-type-2
#12
Dany A Cuello-Almarales, Luis E Almaguer-Mederos, Yaimé Vázquez-Mojena, Dennis Almaguer-Gotay, Pedro Zayas-Feria, José M Laffita-Mesa, Yanetza González-Zaldívar, Raúl Aguilera-Rodríguez, Annelié Rodríguez-Estupiñán, Luis Velázquez-Pérez
Spinocerebellar ataxia type 2 (SCA2) is part of a group of at least nine dominantly inherited disorders characterized by progressive degeneration of specific neuronal populations and a shared mutational mechanism involving the expansion of a CAG repeat tract in coding regions of novel genes. Efforts have been made to identify biomarkers of disease progression, which would allow timely preventive therapeutic interventions. In the present study was assessed the influence of several genome instability biomarkers on SCA2 clinical severity...
April 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/28923014/scn8a-mutations-in-chinese-patients-with-early-onset-epileptic-encephalopathy-and-benign-infantile-seizures
#13
Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen, Shujie Yu
BACKGROUND: SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutations. METHODS: To identify the pathogenic gene of a Chinese family, in which six members suffered from epilepsy, whole-exome sequencing was performed. In addition, target next-generation sequencing (NGS) was performed on 178 sporadic patients, who had epilepsy of unknown etiology within 6 months after birth...
September 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28922471/a-phenotype-combining-hidradenitis-suppurativa-with-dowling-degos-disease-caused-by-a-founder-mutation-in-psenen
#14
M Pavlovsky, O Sarig, M Eskin-Schwartz, N Malchin, R Bochner, J Mohamad, A Gat, A Peled, A Hafner, E Sprecher
Dowling-Degos disease, featuring reticulate pigmentation, and familial hidradenitis suppurativa share many clinical features including autosomal dominant inheritance, flexural location and follicular defects. The co-existence of the two disorders was recently found to result from mutations in PSENEN, encoding protein presenilin enhancer gamma-secretase subunit. Here we report 4 additional families of Jewish Ashkenazi origin who presented with clinical features characteristic of both disorders. All patients were found to carry the same, heterozygous mutation in PSENEN (c...
September 18, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28922105/hereditary-multiple-exostoses-clinical-molecular-and-radiologic-survey-in-9-families
#15
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our group of 9 families with HME we evaluated the clinical course of the disease and analysed molecular background using Sanger sequencing and MLPA in EXT1 and EXT2 genes. The mean age in our group of patients, when the first exostosis was recognised was 4.5 years (range 2-10 years) and the number of exostoses per one patient documented on X-ray ranged from 2 to 54...
2017: Prague Medical Report
https://www.readbyqxmd.com/read/28921696/exome-sequencing-identifies-a-tcf4-mutation-in-a-chinese-pedigree-with-symmetrical-acral-keratoderma
#16
Pingjiao Chen, Silong Sun, Kang Zeng, Changxing Li, Ju Wen, Jingyao Liang, Xin Tian, Yiqi Jiang, Jing Zhang, Sanquan Zhang, Kai Han, Chunlei Han, Xibao Zhang
BACKGROUND: Symmetrical acral keratoderma (SAK) is a rare skin disorder and its pathogenesis and inheritability are unknown. OBJECTIVES: To investigate the inheritance and pathogenesis of SAK. METHODS: Four SAK cases occurred in a four-generation Chinese family. Exome sequencing identified SNPs with potential SAK related mutations, and a potentially responsible gene (Transcription factor 4, TCF4) was identified. TCF4 was then sequenced in all 11 family members and pedigree analysis was performed...
September 18, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28918066/enzymatic-testing-sensitivity-variability-and-practical-diagnostic-algorithm-for-pyruvate-dehydrogenase-complex-pdc-deficiency
#17
Ha Kyung Shin, George Grahame, Shawn E McCandless, Douglas S Kerr, Jirair K Bedoyan
Pyruvate dehydrogenase complex (PDC) deficiency is a major cause of primary lactic acidemia in children. Prompt and correct diagnosis of PDC deficiency and differentiating between specific vs generalized, or secondary deficiencies has important implications for clinical management and therapeutic interventions. Both genetic and enzymatic testing approaches are being used in the diagnosis of PDC deficiency. However, the diagnostic efficacy of such testing approaches for individuals affected with PDC deficiency has not been systematically investigated in this disorder...
September 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28918056/the-therapeutic-potential-of-crispr-cas9-systems-in-oncogene-addicted-cancer-types-virally-driven-cancers-as-a-model-system
#18
REVIEW
Luqman Jubair, Nigel A J McMillan
The field of gene editing is undergoing unprecedented growth. The first ex vivo human clinical trial in China started in 2016, more than 1000 US patents have been filed, and there is exponential growth in publications. The ability to edit genes with high fidelity is promising for the development of new treatments for a range of diseases, particularly inherited conditions, infectious diseases, and cancers. For cancer, a major issue is the identification of driver mutations and oncogenes to target for therapeutic effect, and this requires the development of robust models with which to prove their efficacy...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28918053/ush2a-gene-editing-using-the-crispr-system
#19
Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D Sequedo, Carmen Ayuso, Rafael P Vázquez-Manrique, José M Millán, Elena Aller
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are associated with this disorder, with USH2A being the most prevalent, due partially to the recurrence rate of the c.2299delG mutation. Excluding hearing aids or cochlear implants for hearing impairment, there are no medical solutions available to treat USH patients. The repair of specific mutations by gene editing is, therefore, an interesting strategy that can be explored using the CRISPR/Cas9 system...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28917829/a-chinese-boy-with-geleophysic-dysplasia-caused-by-compound-heterozygous-mutations-in-adamtsl2
#20
Li Dongxiao, Dong Hui, Zheng Hong, Song Jinqing, Li Xiyuan, Jin Ying, Liu Yupeng, Yang Yanling
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. Two genes, FBN1 and ADAMTSL2, were known to be linked to this disorder. The disorder presents as extreme short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickening, progressive cardiac valvular thickening and characteristic facial features, including a round face with full cheeks. Here, we report the first Chinese case with geleophysic dysplasia type 1 based on clinical and genetic features...
September 13, 2017: European Journal of Medical Genetics
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