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Clinical Genetics

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https://www.readbyqxmd.com/read/28436997/truncating-mutations-on-myofibrillar-myopathies-causing-genes-as-prevalent-molecular-explanations-on-patients-with-dilated-cardiomyopathy
#1
Alexandre Janin, Karine N'Guyen, Gilbert Habib, Claire Dauphin, Valérie Chanavat, Patrice Bouvagnet, Romain Eschalier, Streichenberger Nathalie, Philippe Chevalier, Gilles Millat
Dilated Cardiomyopathy (DCM) is one of the leading causes of heart failure with high morbidity and mortality. More than 40 genes have been reported to cause DCM. To provide new insights into the pathophysiology of dilated cardiomyopathy, a NGS workflow based on a panel of 48 cardiomyopathies-causing genes was used to analyze a cohort of 222 DCM patients. Truncating variants were detected on 63 unrelated DCM cases (28.4%). Most of them were identified, as expected, on TTN (29 DCM probands), but truncating variants were also identified on myofibrillar myopathies causing genes in 17 DCM patients (7...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436599/metformin-as-targeted-treatment-in-fragile-x-syndrome
#2
Angel Belle C Dy, Flora Tassone, Marwa Eldeeb, María J Salcedo-Arellano, Nicole Tartaglia, Randi Hagerman
Individuals with Fragile X Syndrome (FXS) may be affected by several comorbid conditions, both behavioral and medical. Growth findings suggest that they are at an increased risk for obesity and overeating. The Prader-Willi phenotype (PWP) of FXS occurs in less than 10% of patients but it is associated with severe hyperphagia, lack of satiation and morbid obesity. Metformin is a drug used in individuals with high risk for diabetes type 2, obesity or impaired glucose tolerance. It has had a strong safety profile in children and adults with type 2 diabetes and obesity...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436541/pdx1-mody-and-dorsal-pancreatic-agenesis-new-phenotype-of-a-rare-disease
#3
L A Caetano, L S Santana, A D Costa-Riquetto, A M Lerario, M Nery, G F Nogueira, C D Ortega, M S Rocha, Aal Jorge, M G Teles
Maturity-Onset Diabetes of the Young (MODY) type 4 or PDX1-MODY is a rare form of monogenic diabetes caused by heterozygous variants in PDX1. Pancreatic developmental anomalies related to PDX1 are reported only in neonatal diabetes cases. Here, we describe dorsal pancreatic agenesis in two patients with PDX1-MODY. The proband presented with diabetes since 14 years of age and maintained regular glycemic control with low doses of basal insulin and detectable C-peptide levels after 30 years with diabetes. A diagnosis of MODY was suspected...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#4
M J Nirenberg, R Chaouni, T M Biller, R M Gilbert, C Paisán-Ruiz
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28425089/high-diagnostic-yield-of-clinically-unidentifiable-syndromic-growth-disorders-by-targeted-exome-sequencing
#5
Yoo-Mi Kim, Yun-Jin Lee, Jae Hong Park, Hyoung-Doo Lee, Chong Kun Cheon, Su-Young Kim, Jae-Yeon Hwang, Ja-Hyun Jang, Han-Wook Yoo
As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. We conducted targeted exome sequencing to identify the genetic causes of undiagnosed syndromic short stature or overgrowth in 15 pediatric patients from 13 families in Korea...
April 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28422281/wnk1-hsn2-founder-mutation-in-patients-with-hereditary-sensory-and-autonomic-neuropathy-a-japanese-cohort-study
#6
Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Norio Sakai, Masanori P Takahashi, Takehiro Ueda, Akira Taniguchi, Sayaka Okamoto, Nobuo Kanazawa, Yuki Yamamoto, Kazumasa Saigoh, Susumu Kusunoki, Masahiro Ando, Yu Hiramatsu, Yuji Okamoto, Hiroshi Takashima
The clinical and genetic spectrum of hereditary sensory and autonomic neuropathy (HSAN) is still unknown in Japan. We collected a broad cohort of 33 unrelated patients with predominant sensory and/or autonomic dysfunctions, who were referred to our genetic laboratory. A gene panel sequencing targeting 18 HSAN-related genes was performed using a next-generation sequencing system. A recurrent frame shift mutation in the WNK1/HSN2 gene, c.3237_3238insT (p.Asp1080*), was detected in five patients. This mutation was homozygous in four cases and of a compound heterozygous genotype in one case...
April 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28407228/deleterious-protein-altering-mutations-in-the-scn10a-voltage-gated-sodium-channel-gene-are-associated-with-prolonged-qt
#7
Maen D Abou Ziki, Sara B Seidelmann, Emily Smith, Gourg Atteya, Yuexin Jiang, Rodolfo Gil Fernandes, Mark A Marieb, Joseph G Akar, Arya Mani
Long QT syndrome (LQT) is a pro-arrhythmogenic condition with life threatening complications. Fifteen genes have been associated with congenital LQT however, the genetic causes remain unknown in more than 20% of cases. Eighteen patients with history of palpitations, presyncope, syncope and prolonged QT were referred to the Yale Cardiovascular Genetics Program. All subjects underwent whole exome sequencing (WES) followed by confirmatory Sanger sequencing. Mutation burden analysis was carried out using WES data from sixteen subjects with no identifiable cause of LQT...
April 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28401540/two-novel-mylk-nonsense-mutations-causing-thoracic-aortic-aneurysms-dissections-in-patients-without-apparent-family-history
#8
LETTER
I Luyckx, D Proost, J M H Hendriks, J Saenen, E M Van Craenenbroeck, T Vermeulen, N Peeters, W Wuyts, I Rodrigus, A Verstraeten, L Van Laer, B L Loeys
No abstract text is available yet for this article.
April 12, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28397259/patient-understanding-of-genetic-information-influences-reproductive-decision-making-in-retinoblastoma
#9
A Foster, L Boyes, L Burgess, S Carless, V Bowyer, H Jenkinson, M Parulekar, J Ainsworth, J Hungerford, Z Onadim, M Sagoo, E Rosser, M A Reddy, T Cole
Retinoblastoma is the most common malignant tumour of the eye in childhood, with nearly all bilateral tumours and around 17-18% of unilateral tumours due to an oncogenic mutation in the RB1 gene in the germline. Genetic testing in all cases enables accurate risk assessment and optimal clinical management for the affected individual, siblings, and future offspring. We carried out the first UK-wide audit of understanding of genetic testing in individuals with retinoblastoma. A total of 292 individuals aged 16-45 years were included...
April 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28393351/whole-exome-sequencing-identifies-a-homozygous-donor-splice-site-mutation-in-stag3-that-causes-primary-ovarian-insufficiency
#10
Wen-Bin He, Santasree Banerjee, Lan-Lan Meng, Juan Du, Fei Gong, Hui Huang, Xin-Xin Zhang, Yan-Yan Wang, Guang-Xiu Lu, Ge Lin, Yue-Qiu Tan
Primary ovarian insufficiency (POI) is the depletion or loss of normal ovarian function, which cause infertility in women before the age of 40 years. Two homozygous germline truncation mutations in STAG3 gene had been reported to causes POI in consanguineous families. Here, we aimed to identify the genetic cause of POI in two affected sisters manifested with primary amenorrhea and partial development of secondary sexual characters with normal range of height of a consanguineous Han Chinese family. Whole exome and Sanger sequencing identified a homozygous donor splice site mutation (NM_012447...
April 10, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28390064/pgap3-related-hyperphosphatasia-with-mental-retardation-syndrome-report-of-10-new-patients-and-a-homozygous-founder-mutation
#11
M S Abdel-Hamid, M Y Issa, G A Otaify, S F Abdel-Ghafar, H M Elbendary, M S Zaki
Hyperphosphatasia with mental retardation syndrome (HPMRS) is caused by recessive mutations in genes involved in the glycosylphosphatidylinsitol pathway, including PGAP3. Herein, we describe 10 patients from 8 Egyptian families presenting with developmental delay, severe intellectual disability, distinct facial dysmorphism and increased alkaline phosphatase. Eight patients had cleft palate, four had postnatal microcephaly and five had seizures. Neuroimaging findings showed thin corpus callosum in 9 patients, mild ventriculomegaly in 3 patients and variable degrees of cerebellar vermis hypoplasia in 4 patients, a finding not previously reported in patients with HPMRS...
April 8, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28386946/comprehensive-molecular-screening-strategy-of-ocln-in-band-like-calcification-with-simplified-gyration-and-polymicrogyria
#12
Emma M Jenkinson, John H Livingston, Mary C O'Driscoll, Isabelle Desguerre, Rima Nabbout, Nathalie Boddaert, Gabriela Soares, Miguel Gonçalves da Rocha, Stefano D'Arrigo, Gillian I Rice, Yanick J Crow
Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll and colleagues reported mutations in OCLN to cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). BLC-PMG is a rare autosomal recessive syndrome, characterised by early onset seizures, progressive microcephaly, severe developmental delay and deep cortical gray matter and basal ganglia calcification with symmetrical, predominantly fronto-parietal, polymicrogyria...
April 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28386937/a-recognizable-systemic-connective-tissue-disorder-with-polyvalvular-heart-dystrophy-and-dysmorphism-associated-with-tab2-mutations
#13
Marco Ritelli, Silvia Morlino, Edoardo Giacopuzzi, Laura Bernardini, Barbara Torres, Graziano Santoro, Viola Ravasio, Nicola Chiarelli, Daniela D'Angelantonio, Antonio Novelli, Paola Grammatico, Marina Colombi, Marco Castori
Deletions encompassing TAK1-binding protein 2 (TAB2) associate with isolated and syndromic congenital heart defects. Rare missense variants are found in patients with a similar phenotype as well as in a single individual with frontometaphyseal dysplasia. We describe a family and an additional sporadic patient with polyvalvular heart disease, generalized joint hypermobility and related musculoskeletal complications, soft, velvety and hyperextensible skin, short limbs, hearing impairment, and facial dysmorphism...
April 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28378410/large-gene-panel-sequencing-in-clinical-diagnostics-results-from-501-consecutive-cases
#14
Sander Pajusalu, Tiina Kahre, Hanno Roomere, Ülle Murumets, Laura Roht, Kristi Simenson, Tiia Reimand, Katrin Õunap
In addition to whole exomes, large gene panels of clinically associated genes are used as high-throughput sequencing tests in many clinical centers, but their clinical utility has been much less investigated. Here we report the results of the 501 first unselected cases for whom TruSight One panel (Illumina Inc.) was sequenced as a clinical diagnostic test for a variety of indications in our department. The analysis was restricted to virtual subpanels based on referral forms, where doctors were asked to list candidate genes or select one from predefined larger panels...
April 5, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28374925/clinical-spectrum-of-kabuki-like-syndrome-caused-by-hnrnpk-haploinsufficiency
#15
Maria Lisa Dentici, Sabina Barresi, Marcello Niceta, Francesca Pantaleoni, Simone Pizzi, Bruno Dallapiccola, Marco Tartaglia, Maria Cristina Digilio
Kabuki syndrome is a genetically heterogeneous disorder characterized by postnatal growth retardation, skeletal abnormalities, intellectual disability, facial dysmorphisms and a variable range of organ malformations. In ~30% of affected individuals, the underlying genetic defect remains unknown. A small number of inactivating heterozygous HNRNPK mutations has recently been reported to be associated with a condition partially overlapping or suggestive of Kabuki syndrome. Here, we report on an 11-year-old girl with a complex phenotype in whom the diagnosis of KS was suggested but molecular testing for the known causative disease genes was negative...
April 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28374897/galactose-1-phosphate-uridyltransferase-deficiency-a-literature-review-of-the-putative-mechanisms-of-short-and-long-term-complications-and-allelic-variants
#16
REVIEW
Emanuela Viggiano, Anna Marabotti, Luisa Politano, Alberto Burlina
Galactosemia type 1 is an autosomal recessive disorder of galactose metabolism, determined by a deficiency in the enzyme galactose-1-phosphate uridyltransferase (GALT). GALT deficiency is classified as severe or variant depending on biochemical phenotype, genotype and potential to develop acute and long-term complications. Neonatal symptoms usually resolve after galactose-restricted diet; however, some patients, despite the diet, can develop long-term complications, in particular when the GALT enzyme activity results absent or severely decreased...
April 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28369732/study-of-the-huntington-s-disease-it-15-gene-in-different-ethnic-groups-in-ecuador
#17
César Paz-Y-Miño, Carolina Salazar, Jennyfer M García-Cárdenas, Alejandro Cabrera-Andrade, Andrés López-Cortés, Víctor H Pavón-Realpe, Estefanía Eras, Carla Rodriguez P, Juan P Domínguez Enríquez, Cristian D Cusco Cuzco, Diana C Navarrete Socasi, Paola E Leone
This study aims to establish the current state of the IT-15 (HTT) gene in different Ecuadorian ethnic groups and patients by determining CAG triplet repeats, compared with the ethnicity of individuals. Four hundred twelve individuals were studied using nested PCR and Sanger sequencing: 75 individuals were indigenous (Kichwas), 211 mestizos, and 65 Afro-Ecuadorians. We included 31 patients who were clinically diagnosed with Huntington's disease and relatives of the affected patients (n = 30). Moreover, we correlated the presence of HD in Ecuadorian patients with 46 genetic ancestry-informative insertion-deletion polymorphic markers (AIMs-INDELs)...
April 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28369730/genetics-of-hypertrophic-cardiomyopathy-a-review-of-current-state
#18
REVIEW
María Sabater-Molina, Inmaculada Pérez-Sánchez, Juan Pedro Hernández Del Rincón, Juan R Gimeno
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations, but also the severity of phenotype, symptom burden, and the risk of complications, like heart failure and sudden death. The penetrance is incomplete and it is age and gender dependent. It is accepted as a disease of the sarcomere. Sixty percent of HCM cases carry mutations in one of eight sarcomere protein genes, mainly non-sense MYBPC3 and missense MYH7 variants...
April 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28369810/new-epcam-founder-deletion-in-polish-population
#19
Dagmara Dymerska, Katarzyna Gołębiewska, Magdalena Kuświk, Helena Rudnicka, Rodney J Scott, Raewyn Billings, Andrzej Pławski, Paweł Boruń, Monika Siołek, Beata Kozak-Klonowska, Marek Szwiec, Ewa Kilar, Tomasz Huzarski, Tomasz Byrski, Jan Lubinski, Grzegorz Kurzawski
It is well known that founder mutations associated with cancer risk have useful implications for molecular diagnostics. We report the presence of a founder mutation in EPCAM involved in the etiology of Lynch syndrome (LS). The mutation extends nearly 8,7 kb (c.858 + 2478_*4507del) and is shared by eight Polish families. Family members suffered almost exclusively from colorectal cancer, however, pancreatic and gastric cancers were also apparent. Next to mutations c. 2041G>A in MLH1 gene and c.942+3A>T in MSH2, the deletion mutation encompassing EPCAM is one of the most common causative changes responsible for LS in Poland...
March 31, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28369852/metatarsal-bony-syndactyly-in-2-fetuses-with-smith-lemli-opitz-syndrome-an-under-recognized-part-of-the-clinical-spectrum
#20
LETTER
Shahida Moosa, Bart Loeys, Janine Altmüller, Geert Mortier, Peter Nürnberg, Yun Li, Bernd Wollnik, Ida Vogel
No abstract text is available yet for this article.
March 30, 2017: Clinical Genetics
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