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Clinical Genetics

Kyung Hwan Jeong, Jin Sug Kim, Jeong-Taek Woo, Sang Youl Rhee, Yu Ho Lee, Yang Gyun Kim, Ju-Young Moon, Su Kang Kim, Sun Woo Kang, Sang Ho Lee, Yeong Hoon Kim
Genetic factors are considered to be important in the pathogenesis of diabetic nephropathy (DN). Despite several genome-wide association studies (GWASs) demonstrating that specific polymorphisms of candidate genes were associated with DN, there were some limitations in previous studies. We conducted a GWAS using customized DNA chips to identify novel susceptibility loci for DN in Korean. We analyzed a total of 414 DN cases and 474 normoalbuminuric diabetic hyper-controls across two stages using customized DNA chips containing 98,667 single nucleotide polymorphisms (SNPs)...
March 18, 2019: Clinical Genetics
P Castronovo, M Baccarin, A Ricciardello, C Picinelli, P Tomaiuolo, F Cucinotta, M Frittoli, C Lintas, R Sacco, A M Persico
Neurexins are presynaptic cell adhesion molecules critically involved in synaptogenesis and vesicular neurotransmitter release. They are encoded by three genes (NRXN1-3), each yielding a longer alpha (α) and a shorter beta (β) transcript. Deletions spanning the promoter and the initial exons of the NRXN1 gene, located in chromosome 2p16.3, are associated with a variety of neurodevelopmental, psychiatric, neurological and neuropsychological phenotypes. We have performed a systematic review to define (a) the clinical phenotypes most associated with mono-allelic exonic NRXN1 deletions, and (b) the phenotypic features of NRXN1 bi-allelic deficiency due to compound heterozygous deletions/mutations...
March 14, 2019: Clinical Genetics
Dominik S Westphal, Gloria S Leszinski, Esther Rieger-Fackeldey, Elisabeth Graf, Gregor Weirich, Thomas Meitinger, Eva Ostermayer, Renate Oberhoffer, Matias Wagner
Congenital heart defects (CHDs) are the most common birth defect with 30-40% being explained by genetic aberrations. With next generation sequencing becoming widely available, we sought to evaluate the clinical utility of exome sequencing (ES) in prenatally diagnosed CHD. We retrospectively analyzed the diagnostic yield as well as non-conclusive and incidental findings in 30 cases with prenatally diagnosed CHDs using ES, mostly as parent-child trios. A genetic diagnosis was established in 20% (6/30). Non-conclusive results were found in 13% (4/30) and incidental findings in 10% (3/30)...
March 14, 2019: Clinical Genetics
Caroline Horrow, Joel Pacyna, Erica Sutton, Beau P Sperry, Carmen Radecki Breitkopf, Richard R Sharp
Efforts to characterize stakeholder attitudes about the implementation of genomic medicine would benefit from a validated instrument for measuring public views of the potential benefits and harms of genomic technologies, which would facilitate comparison across populations and clinical settings. We sought to develop a scale to evaluate attitudes about the future of genomic medicine. We developed a 21-item scale that examined the likelihood of various outcomes of genomic medicine. The scale was administered to participants in a genomic sequencing study...
March 14, 2019: Clinical Genetics
Alistair T Pagnamenta, Pamela J Kaisaki, Fenella Bennett, Emma Burkitt-Wright, Hilary C Martin, Matteo P Ferla, John M Taylor, Lianne Gompertz, Nayana Lahiri, Katrina Tatton-Brown, Ruth Newbury-Ecob, Alex Henderson, Shelagh Joss, Astrid Weber, Jenny Carmichael, Peter D Turnpenny, Shane McKee, Francesca Forzano, Tazeen Ashraf, Kimberley Bradbury, Deborah Shears, Usha Kini, Anna de Burca, The D D D Study, Edward Blair, Jenny C Taylor, Helen Stewart
Noonan syndrome (NS) is characterized by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, recent studies indicate LZTR1 may be associated with both dominant and recessive forms. Seeking to describe the phenotypic characteristics of LZTR1-associated NS, we searched for likely-pathogenic variants using two approaches. Firstly, scrutiny of exomes from 9624 patients recruited by the Deciphering Developmental Disorders (DDD) study uncovered six dominantly-acting mutations (p...
March 12, 2019: Clinical Genetics
Andrea Angius, Paolo Uva, Manuela Oppo, Insa Buers, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Margot I Van Allen, Gurdip Hulait, Gudrun Aubertin, Francesco Muntoni, Andrew E Fry, Göran Annerén, Eva-Lena Stattin, María Palomares-Bralo, Fernando Santos-Simarro, Francesco Cucca, Giangiorgio Crisponi, Frank Rutsch, Laura Crisponi
Crisponi/Cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 (CS/CISS1), in CLCF1 (CS/CISS2) and in KLHL7 (CS/CISS-like). Here, a whole exome sequencing approach in individuals with CS/CISS-like phenotype with unknown molecular defect revealed unpredicted alternative diagnoses...
March 12, 2019: Clinical Genetics
Elaine Suk-Ying Goh, Fiona A Miller, Deborah A Marshall, Wendy J Ungar
Preimplantation genetic diagnosis (PGD) allows couples to test for a genetically affected embryo prior to implantation. Patient access to this ethically complex and expensive technology differs markedly across jurisdictions, with differences in private/public insurance coverage and variations in patient inclusion and diagnostic criteria. The objective of the study was to identify trade-offs regarding PGD coverage decisions amongst genetic counsellors. To quantify stated preferences for PGD coverage, we conducted a discrete choice experiment with Canadian genetic counsellors (GC) considering attributes regarding the scope of testing (PGD indication, risk of the condition and number of cycles covered) and patient inclusion criteria (fertility status and family history)...
March 11, 2019: Clinical Genetics
Megan Bell, Barbara B Biesecker, Joann Bodurtha, Holly L Peay
Uncertainty is a challenging aspect of caring for children with Duchenne/Becker Muscular Dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope may influence caregivers' perceptions of uncertainty as opportunity. The goal of this cross-sectional quantitative study was to pilot a novel measure of state-based hope, and test relationships among uncertainty, hope, spirituality, and coping efficacy in mothers of children with DBMD. Mothers (n=202) were recruited through DuchenneConnect, Parent Project Muscular Dystrophy, and Cincinnati's Children Hospital...
March 7, 2019: Clinical Genetics
Yukiko Kuroda, Hiroaki Murakami, Yumi Enomoto, Yoshinori Tsurusaki, Kazumi Takahashi, Kanako Mitsuzuka, Hitoshi Ishimoto, Gen Nishimura, Kenji Kurosawa
Desbuquois dysplasia (DBQD) is an autosomal recessive heterogeneous disorder characterized by joint laxity and skeletal changes, including a distinctive monkey-wrench appearance of the femora, advanced carpal ossification, and abnormal patterning of the preaxial digits. Two genes for DBQD (CANT1 encoding calcium-activated nucleotidase-1 and XYLT1 encoding xylosyltransferase-1) have been reported. We propose a novel gene for neonatal short limb dysplasia resembling DBQD, based on the phenotype and genotype of two affected siblings...
March 7, 2019: Clinical Genetics
Brittany T Truong, Talitha K L Yarza, Tori Bootpetch Roberts, Susannah Roberts, Jonathan Xu, Matthew J Steritz, Celina A M Tobias-Grasso, Mahshid Azamian, Seema R Lalani, Karen L Mohlke, Nanette R Lee, Eva Maria Cutiongco-de la Paz, Maria Rina T Reyes-Quintos, Regie Lyn P Santos-Cortez, Charlotte M Chiong
No abstract text is available yet for this article.
March 4, 2019: Clinical Genetics
Goodarz Kolifarhood, Maryam S Daneshpour, Bahar Sedaghati Khayat, Hossein Mozafar Saadati, Kamran Guity, Nasim Khosravi, Mahdi Akbarzadeh, Siamak Sabour
Remarkable findings from genome wide association studies (GWAS) on blood pressure (BP) traits have made new insights for developing precision medicine towards more effective screening measures. However, generality of GWAS findings in diverse populations is hampered by some technical limitations. There is no comprehensive study to evaluate source(s) of the non-generality of GWAS results on BP traits, so to fill the gap, this systematic review study was carried out. Using MeSH terms, 1545 records were detected through searching in 5 databases and 49 relevant full-text articles were included in our review...
February 28, 2019: Clinical Genetics
Romina Gabriela Armando, Diego Luis Mengual Gomez, Julián Maggio, María Cecilia Sanmartin, Daniel Eduardo Gomez
Telomeropathies involve a wide variety of infrequent genetic diseases caused by mutations in the telomerase maintenance mechanism or the DNA damage response system (DDR). They are considered a family of rare diseases that often share causes, molecular mechanisms and symptoms. Generally, these diseases are not diagnosed until the symptoms are advanced, diminishing the survival time of patients. Although several related syndromes may still be unrecognized this work describes those that are known, highlighting that since they are rare diseases, physicians should be trained in their early diagnosis...
February 28, 2019: Clinical Genetics
Yang Li, Yanwei Sha, Xiong Wang, Lu Ding, Wensheng Liu, Zhiyong Ji, Libin Mei, Xianjing Huang, Shaobin Lin, Shuangbo Kong, Jinhua Lu, Weibing Qin, Xinzhong Zhang, Jianmin Zhuang, Yunge Tang, Zhongxian Lu
Multiple morphological abnormalities of flagella (MMAF) is one kind of severe teratozoospermia. Gene mutations reported in previous works only revealed the pathogenesis of approximately half of the MMAF cases, and more genetic defects in MMAF need to be explored. In the present study, we performed a genetic analysis on Han Chinese men with MMAF using Whole-Exome sequencing. After filtering out the cases with known gene mutations, we identified 5 novel mutation sites in the DNAH2 gene in 3 cases from 3 families...
February 27, 2019: Clinical Genetics
Zafer Yüksel, Florian Vogel, Amal M Alhashem, Talal S A Alanzi, Brahim Tabarki, Kapil Kampe, Krishna K Kandaswamy, Martin Werber, Aida M Bertoli-Avella, Christian Beetz, Arndt Rolfs, Peter Bauer
No abstract text is available yet for this article.
February 21, 2019: Clinical Genetics
Shaina Rodriguez, Rajiv Chaturvedi, Victor Blanchette, Sharon Dell, Michelle Oxford, Michaela Cada, Yigal Dror
No abstract text is available yet for this article.
February 21, 2019: Clinical Genetics
Melissa T Carter, Sunita Venkateswaran, Gali Shapira-Zaltsberg, Jorge Davila, Peter Humphreys, Kristin D Kernohan, Kym M Boycott
The GTPBP2 gene encodes a GTP-binding protein of unknown function. Biallelic loss-of-function variants in the GTPBP2 gene have been previously reported in association with a neuro-ectodermal clinical presentation in six individuals from four unrelated families. Here, we provide detailed descriptions of three additional individuals from two unrelated families in the context of the previous literature. Both families carry nonsense variants in GTPBP2: homozygous p.(Arg470*) and compound heterozygous p.(Arg432*)/p...
February 20, 2019: Clinical Genetics
S U Peters, C Fu, B Suter, E Marsh, T A Benke, S A Skinner, D N Lieberman, S Standridge, M Jones, A Beisang, T Feyma, P Heydeman, R Ryther, W E Kaufmann, D G Glaze, J L Neul, A K Percy
Individuals with MECP2 duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. In this study, we examine the relationship between duplication size, gene content, and overall phenotype in MDS using a clinical severity scale. Other genes typically duplicated within Xq28 (e.g. GDI1, RAB39B, FLNA) are associated with distinct clinical features independent of MECP2. We additionally compare the phenotype of this cohort (n=48) to other reported cohorts with MDS...
February 20, 2019: Clinical Genetics
Gry Velvin, Jan Erik Wilhelmsen, Heidi Johansen, Trine Bathen, Amy Østertun Geirdal
The purpose of this study was to explore the literature on quality of life (QoL) in patients with Hereditary Thoracic Aortic Aneurysm and Dissection (HTAAD); including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular EDS (vEDS) and other HTAAD diagnoses, critically appraising and synthesizing the relevant literature. A systematic review was performed by searching the published literature using available medical, physical, psychological, social databases and other sources. Studies addressing QoL in persons with a HTAAD diagnosis, published in peer-reviewed journals were assessed...
February 20, 2019: Clinical Genetics
Yang-Tian Yan, Qiao Wei, Yicen Zheng, Wen-Jiao Luo, Hai-Lin Dong, Cong Lu, Juan Zhang, Mei-Jiao Chen, Ying-Xiao Bao, Hong-Fu Li
Pedigree chart of hereditary spastic paraplegia (HSP) patients and chromatogram of novel mutations. A. Pedigree chart of 12 Chinese HSP families with mutation. Squares indicate males; circles indicate females; the black symbols indicate affected individuals; arrows indicate the probands; and asterisks indicate the individual with mutation.B. Chromatogram of six novel mutations identified in our cohort. The upper panel in chromatogram depicts the reference sequence. The lower panel represents heterozygous mutated sequence...
February 19, 2019: Clinical Genetics
Piranit Nik Kantaputra, Apitchaya Pruksametanan, Nattapol Phondee, Athiwat Hutsadaloi, Worrachet Intachai, Katsushig Kawasaki, Atsushi Ohazama, Chumpol Ngamphiw, Sissades Tongsima, James R Ketudat Cairns, Polbhat Tripuwabhrut
Mandibular prognathism is characterized by a prognathic or prominent mandible. The objective of this study was to find the gene responsible for mandibular prognathism. Whole exome sequencing analysis of a Thai family (family 1) identified the ADAMTSL1 c.176C>A variant as the potential defect. We cross-checked our exome data of 215 people for rare variants in ADAMTSL1 and found that the c.670C>G variant was associated with mandibular prognathism in families 2 and 4. Mutation analysis of ADAMTSL1 in 79 unrelated patients revealed the c...
February 3, 2019: Clinical Genetics
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