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European Journal of Medical Genetics

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https://www.readbyqxmd.com/read/28087401/how-the-eucerd-joint-action-supported-initiatives-on-rare-diseases
#1
REVIEW
Stephen Lynn, Victoria Hedley, Antonio Atalaia, Teresinha Evangelista, Kate Bushby
Joint Actions are successful initiatives from the European Commission (EC) that have helped to raise awareness and to bring significant benefit to those suffering from a rare disease (RD). In this paper, we will focus on the activities developed by the EUCERD Joint Action (EJA) and by the Orphanet Joint Action ("Orphanet Europe"). EUCERD Joint Action was co-funded by the EC and the Member States between 2012 and 2015 to help to define the activities and policies in the field of Rare Diseases and foster exchange of experiences amongst Member States...
January 10, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28027978/in-silico-analysis-for-predicting-pathogenicity-of-five-unclassified-mitochondrial-dna-mutations-associated-with-mitochondrial-cytophaties-phenotypes
#2
Mafalda Bacalhau, João Pratas, Marta Simões, Cândida Mendes, Carolina Ribeiro, Maria J Santos, Luisa Diogo, Maria Carmo Macário, Manuela Grazina
Mitochondrial DNA (mtDNA) mutations have been assigned as a major cause of genetic disease. When a novel sequence variation is found, it is necessary to evaluate its functional impact, usually requiring functional molecular studies. Given the fact that this approach is difficult to put in practice in a routine basis, it is possible to take advantage of the in silico tools available and predict protein/RNA structure changes and therefore pathogenicity. Here, we describe the characterization of five undescribed mtDNA variants, upon detection of 23 unclassified alterations at Laboratory of Biochemical Genetics, from 2004 to 2014...
December 24, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28027977/cleidocranial-dysplasia-clinical-endocrinologic-and-molecular-findings-in-15-patients-from-11-families
#3
Firdevs Dinçsoy Bir, Nuriye Dinçkan, Yeliz Güven, Firdevs Baş, Umut Altunoğlu, Senem S Kuvvetli, Şükran Poyrazoğlu, Güven Toksoy, Hülya Kayserili, Z Oya Uyguner
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57...
December 24, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28017902/a-severe-pulmonary-complication-in-a-patient-with-col4a1-related-disorder-a-case-report
#4
Yoshiichi Abe, Atsuko Matsuduka, Kazuo Okanari, Hiroaki Miyahara, Mitsuhiro Kato, Satoko Miyatake, Hirotomo Saitsu, Naomichi Matsumoto, Maeda Tomoki, Kenji Ihara
Patients with COL4A1 mutation-related disorders demonstrate a variety of disease phenotypes, which caused by small-vessel dysfunction in the brain, eyes, kidney, muscle, or heart. The involvement of organs mainly depends on the expression of the COL4A1 gene. Complication or dysfunction of the alveolar tissue has not been reported in the literature on COL4A1 mutation-related disorders. We herein report the case of a boy with schizencephaly, renovascular hypertension, and retinal arteriosclerosis of unknown origin, who suffered from severe and repetitive alveolar hemorrhage at 9 years of age...
December 23, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28007608/16p13-microduplication-without-crebbp-involvement-moving-toward-a-phenotype-delineation
#5
Claudia Ciaccio, Arianna Tucci, Giulietta Scuvera, Margherita Estienne, Susanna Esposito, Donatella Milani
The short arm of chromosome 16 is one of the less stable regions of our genome, as over 10% of the euchromatic region of 16p is composed of highly complex low copy repeats that are known to be predisposed to rearrangements mediated by non-allelic homologous recombination. The 16p13.3p13.13 molecular region has been defined as the 16p duplication hotspot, and duplications of chromosome 16p13 have recently been confirmed to cause a recognizable syndrome, with CREBBP being the main phenotype-causing gene. To date, only one case report is present in the literature with a 16p13 duplication without CREBBP involvement; we describe here a second analogous case with a not previously reported 16p13...
December 20, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28007609/editorial-updates-in-teratology
#6
EDITORIAL
(no author information available yet)
No abstract text is available yet for this article.
December 19, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27965001/calcifying-nested-stromal-epithelial-tumor-cnset-of-the-liver-in-beckwith-wiedemann-syndrome
#7
REVIEW
Nasim Khoshnam, Haynes Robinson, Michael R Clay, Lauren R Schaffer, Scott E Gillespie, Bahig M Shehata
Calcifying nested stromal-epithelial tumor (CNSET) is a rare neoplasm. In the 31 reported cases, CNSET is predominantly found in young girls and women. Beckwith-Wiedemann syndrome (BWS) (OMIM #130650) is an overgrowth syndrome with an increased risk to develop cancer. Associations have been seen between BWS and embryonal tumors, especially Wilms tumor, hepatoblastoma, and adrenocortical carcinoma. Here we report on a female patient with BWS who presented with CNSET. Two other cases with the same association have been reported, with our case representing the third such reported in the literature...
December 10, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27956278/the-m694i-m694i-genotype-a-genetic-risk-factor-of-aa-amyloidosis-in-a-group-of-algerian-patients-with-familial-mediterranean-fever
#8
Djouher Ait-Idir, Bahia Djerdjouri, Faiza Bouldjennet, Rowaida Z Taha, Hatem El-Shanti, Rawda Sari-Hamidou, Ghalia Khellaf, Mustapha Benmansour, Mohamed Benabadji, Farid Haddoum
Familial Mediterranean fever (FMF, OMIM 249100) is the most common hereditary fever, resulting from mutations in MEFV. FMF is characterized by episodic febrile attacks and polyserositis. Renal AA-amyloidosis is a major complication, which often leads to end-stage renal disease in untreated patients. The data about the renal AA-amyloidosis secondary to FMF are scarce in North African countries and non-existent in Algeria. We aimed to investigate the MEFV mutations associated with this complication in an Algerian patient cohort...
December 10, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27939946/stargardt-disease-associated-mutation-spectrum-of-a-russian-federation-cohort
#9
Inna V Zolnikova, Vladimir V Strelnikov, Natalia A Skvortsova, Alexander S Tanas, Debmalya Barh, Elena V Rogatina, Irina V Egorova, Darja V Levina, Olga N Demenkova, Egor G Prikaziuk, Marianna E Ivanova
ABCA4-associated mutation screening is extensively performed in European, African, American and several other populations for various retinopathies. However, it has not been well studied in a Russian cohort. Using next-generation (325 genes inherited disease panel) and Sanger sequencing technologies for the first time we documented the spectrum of genetic variations in a Russian retinopathy cohort of 51 patients from 10 ethnic groups. We found ABCA4 variations in 70.5% cases and one case with BEST1 variation...
December 9, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27915094/clinical-features-associated-with-ctnnb1-de-novo-loss-of-function-mutations-in-ten-individuals
#10
Mira Kharbanda, Daniela T Pilz, Susan Tomkins, Kate Chandler, Anand Saggar, Alan Fryer, Victoria McKay, Pedro Louro, Jill Clayton Smith, John Burn, Usha Kini, Anna De Burca, David R FitzPatrick, Esther Kinning
Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with haploinsufficiency for this gene. Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified eleven further individuals with de novo loss of function mutations in CTNNB1. Here we report detailed phenotypic information on ten of these...
November 30, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27913285/autosomal-recessive-spinocerebellar-ataxia-20-report-of-a-new-patient-and-review-of-literature
#11
Anju Shukla, Priyanka Upadhyai, Jhanvi Shah, K Neethukrishna, Stephanie Bielas, K M Girisha
Inherited ataxias are an extremely heterogeneous group of disorders. Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities. Mutations in the gene SNX14, which plays an important role in autophagy, have been found to cause SCAR20. The unique clinical findings of progressive coarsening of facial features makes the clinical phenotype recognizable among the various hereditary ataxias...
November 29, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27890788/genetic-testing-among-spanish-pediatric-neurologists-knowledge-attitudes-and-practices
#12
J Domínguez-Carral, J López-Pisón, A Macaya, M Bueno Campaña, M A García-Pérez, D Natera-de Benito
Advances in genetic testing applied to child neurology have enabled the development of genetic tests with greater sensitivity in elucidating an etiologic diagnosis for common neurological conditions. The objective of the current study was to examine child neurologists' perspectives and insights into genetic testing. We surveyed 118 Spanish child neurologists, exploring their knowledge, attitudes, and practices concerning genetic tests. All of them had requested at least one genetic test in the past six months...
November 25, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27866050/boucher-neuh%C3%A3-user-syndrome-a-rare-cause-of-inherited-hypogonadotropic-hypogonadism-a-case-of-two-adult-siblings-with-two-novel-mutations-in-pnpla6
#13
Jakob H Langdahl, Anja L Frederiksen, Nina Nguyen, Klaus Brusgaard, Claus B Juhl
Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five healthy siblings were non- or heterozygous carriers of the mutations. The cases, which presented with ataxia in childhood and hypogonadotropic hypogonadism (HH), were diagnosed at age 17 and 25, respectively, when examined for delayed puberty...
November 16, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27866049/novel-eln-mutation-in-a-family-with-supravalvular-aortic-stenosis-and-intracranial-aneurysm
#14
Anne Marie Jelsig, Zsolt Urban, Vishwanathan Hucthagowder, Henrik Nissen, Lilian Bomme Ousager
Pathogenic germline mutations in ELN can be detected in patients with supravalvular aortic stenosis. The mutation might occur de novo or be inherited following an autosomal dominant pattern of inheritance. In this report we describe a three-generation family suffering from supravalvular aortic stenosis, various other arterial stenoses, sudden death, and intracranial aneurysms. A frameshift mutation in exon 12, not described before, was detected in the affected family members. This report emphasises the importance of family history, genetic counselling, and demonstrates the great variability in the phenotype within a single SVAS family...
November 16, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27866048/7p22-1-microduplication-syndrome-refinement-of-the-critical-region
#15
Luisa Ronzoni, Francesca Sofia Grassi, Lidia Pezzani, Arianna Tucci, Marco Baccarin, Susanna Esposito, Donatella Milani
7p22.1 microduplication syndrome is mainly characterized by developmental and speech delay, craniofacial dysmorphisms and skeletal abnormalities. The minimal critical region includes two OMIM genes: ACTB and RNF216. Here, we report on a girl carrying the smallest 7p22.1 microduplication detected to date, contributing to the delineation of the clinical phenotype of the 7p22.1 duplication syndrome and to the refinement of the minimal critical region. Our patient shares several major features of the 7p22.1 duplication syndrome, including craniofacial dysmorphisms and speech and motor delay, but she also presents with renal anomalies...
November 16, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27838393/mutation-spectrum-of-nf1-gene-in-italian-patients-with-neurofibromatosis-type-1-using-ion-torrent-pgm%C3%A2-platform
#16
Francesco Calì, Valeria Chiavetta, Giuseppa Ruggeri, Maria Piccione, Angelo Selicorni, Daniela Palazzo, Maria Bonsignore, Anna Cereda, Maurizio Elia, Pinella Failla, Maria Grazia Figura, Agata Fiumara, Silvia Maitz, Giuseppa Maria Luana Mandarà, Teresa Mattina, Alda Ragalmuto, Corrado Romano, Martino Ruggieri, Roberto Salluzzo, Antonino Saporoso, Carmelo Schepis, Giovanni Sorge, Maria Spanò, Gaetano Tortorella, Valentino Romano
Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient shows different signs on the skin and other organs from early childhood. The best known are six or more café au lait spots, axillary or inguinal freckling, increased risk of developing benign nerve sheath tumours and plexiform neurofibromas. Mutation detection is complex, due to the large gene size, the large variety of mutations and the presence of pseudogenes...
November 9, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27836748/-serpentine-like-syndrome-a-very-rare-multiple-malformation-syndrome-characterised-by-brachioesophagus-and-vertebral-anomalies
#17
Ana Beleza-Meireles, Patricia Steenhaut, Catheline Hocq, Philippe Clapuyt, Pierre Bernard, Christian Debauche, Yves Sznajer
"Serpentine-like syndrome" is a severe and rare association of multiple congenital malformations, characterised by brachioesophagus, secondary intrathoracic stomach, and vertebral anomalies. Other associated anomalies have been described, such as malposition and herniation of abdominal organs. We report the natural history of a baby girl born at 29 weeks of gestation with intra uterine growth restriction, short neck, large rachischisis from cervical to thoracic spine, a very short oesophagus, thoracic stomach associated with a midline diaphragmatic hernia, malrotated gut and median cleft lip...
November 9, 2016: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27742482/interventions-in-fetal-alcohol-spectrum-disorders-an-international-perspective
#18
Christie L M Petrenko, Michelle E Alto
Fetal alcohol spectrum disorders (FASD) are present across countries and cultures, with prevalence rates threatening to rise in the coming years. In order to support children and families with FASD around the world, researchers must work to disseminate and implement evidence-based interventions. However, each cultural context presents unique elements and barriers to the implementation process. This review considers the challenges of addressing FASD in an international context. It summarizes existing FASD interventions that have empirical support in the domains of parenting and education, attention and self-regulation, adaptive functioning, and nutrition and medication...
January 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27729236/a-review-of-the-physical-features-of-the-fetal-alcohol-spectrum-disorders
#19
Miguel Del Campo, Kenneth Lyons Jones
The fetal alcohol spectrum of disorders (FASD) includes four diagnostic categories for the clinical consequences of prenatal alcohol exposure (PAE) in the unborn child. Physical features are necessary for the diagnosis of the fetal alcohol syndrome (FAS) and partial pFAS. Moreover, these features are specific and a diagnosis of FAS can be made even in the absence of knowledge of PAE. Not only growth deficits, microcephaly and the 3 facial features (short palpebral fissures, smooth philtrum and narrow vermillion of the upper lip) are characteristic, since other dysmorphic features particularly in the hands are key to the recognition of FAS...
January 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27697599/chornobyl-30-years-later-radiation-pregnancies-and-developmental-anomalies-in-rivne-ukraine
#20
Wladimir Wertelecki, Christina D Chambers, Lyubov Yevtushok, Natalya Zymak-Zakutnya, Zoriana Sosyniuk, Serhiy Lapchenko, Bogdana Ievtushok, Diana Akhmedzhanova, Oleksandr Komov
In the 30 years since the Chornobyl nuclear power plant disaster, there is evidence of persistent levels of incorporated ionizing radiation in adults, children and pregnant women in the surrounding area. Measured levels of Cesium-137 vary by region, and may be influenced by dietary and water sources as well as proximity to nuclear power plants. Since 2000, comprehensive, population-based birth defects monitoring has been performed in selected regions of Ukraine to evaluate trends and to generate hypotheses regarding potential causes of unexplained variations in defect rates...
January 2017: European Journal of Medical Genetics
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