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https://www.readbyqxmd.com/read/28425981/whole-exome-sequencing-on-deceased-fetuses-with-ultrasound-anomalies-expanding-our-knowledge-of-genetic-disease-during-fetal-development
#1
Carin L Yates, Kristin G Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola
PurposeThe aim of this study was to determine the diagnostic yield of whole-exome sequencing (WES) in fetuses with ultrasound anomalies that resulted in fetal demise or pregnancy termination. The results were also utilized to aid in the identification of candidate genes for fetal development and to expand the clinical phenotype of known genetic conditions.MethodsWES was performed on specimens from 84 deceased fetuses. Data were analyzed and final results were classified into one of four categories: positive, possible, negative, and candidate gene only...
April 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28403691/novel-nlrc4-mutation-causes-a-syndrome-of-perinatal-autoinflammation-with-hemophagocytic-lymphohistiocytosis-hepatosplenomegaly-fetal-thrombotic-vasculopathy-and-congenital-anemia-and-ascites
#2
Jiancong Liang, Danielle N Alfano, James E Squires, Melissa M Riley, W Tony Parks, Julia Kofler, Areeg El-Gharbawy, Suneeta Madan-Kheterpal, Roxanne Acquaro, Jennifer Picarsic
Autoinflammatory diseases are caused by pathologic activation of the innate immune system. Primary hemophagocytic lymphohistiocytosis (HLH) is an aggressive syndrome of excessive immune activation caused by monogenic mutations resulting in cytotoxic cell defects and subsequent failure to eliminate activated macrophages. Secondary HLH is often diagnosed in cases without a known Mendelian inheritance. However, some cases of "secondary" HLH have been shown to harbor mutations with partial dysfunction of the cytotoxic system...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28387813/whole-exome-sequencing-for-prenatal-diagnosis-of-fetuses-with-congenital-anomalies-of-the-kidney-and-urinary-tract
#3
Ting-Ying Lei, Fang Fu, Ru Li, Dan Wang, Rong-Yue Wang, Xiang-Yi Jing, Qiong Deng, Zhou-Zhou Li, Ze-Qun Liu, Xin Yang, Dong-Zhi Li, Can Liao
Background.: In the absence of cytogenetic abnormality, fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with/without other structural anomalies show a higher likelihood of monogenic causes; however, defining the underlying pathology can be challenging. Here, we investigate the value of whole-exome sequencing (WES) in fetuses with CAKUT but normal findings upon karyotyping and chromosome microarray analysis. Methods.: WES was performed on DNA from the cord blood of 30 fetuses with unexplained CAKUT with/without other structural anomalies...
April 6, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28379579/discovery-of-novel-heart-rate-associated-loci-using-the-exome-chip
#4
Marten E van den Berg, Helen R Warren, Claudia P Cabrera, Niek Verweij, Borbala Mifsud, Jeffrey Haessler, Nathan A Bihlmeyer, Yi-Ping Fu, Stefan Weiss, Henry J Lin, Niels Grarup, Ruifang Li-Gao, Giorgio Pistis, Nabi Shah, Jennifer A Brody, Martina Müller-Nurasyid, Honghuang Lin, Hao Mei, Albert V Smith, Leo-Pekka Lyytikäinen, Leanne M Hall, Jessica van Setten, Stella Trompet, Bram P Prins, Aaron Isaacs, Farid Radmanesh, Jonathan Marten, Aiman Entwistle, Jan A Kors, Claudia T Silva, Alvaro Alonso, Joshua C Bis, Rudolf de Boer, Hugoline G de Haan, Renée de Mutsert, George Dedoussis, Anna F Dominiczak, Alex S F Doney, Patrick T Ellinor, Ruben N Eppinga, Stephan B Felix, Xiuqing Guo, Yanick Hagemeijer, Torben Hansen, Tamara B Harris, Susan R Heckbert, Paul L Huang, Shih-Jen Hwang, Mika Kähönen, Jørgen K Kanters, Ivana Kolcic, Lenore J Launer, Man Li, Jie Yao, Allan Linneberg, Simin Liu, Peter W Macfarlane, Massimo Mangino, Andrew D Morris, Antonella Mulas, Alison D Murray, Christopher P Nelson, Marco Orrú, Sandosh Padmanabhan, Annette Peters, David J Porteous, Neil Poulter, Bruce M Psaty, Lihong Qi, Olli T Raitakari, Fernando Rivadeneira, Carolina Roselli, Igor Rudan, Naveed Sattar, Peter Sever, Moritz F Sinner, Elsayed Z Soliman, Timothy D Spector, Alice V Stanton, Kathleen E Stirrups, Kent D Taylor, Martin D Tobin, André Uitterlinden, Ilonca Vaartjes, Arno W Hoes, Peter van der Meer, Uwe Völker, Melanie Waldenberger, Zhijun Xie, Magdalena Zoledziewska, Andrew Tinker, Ozren Polasek, Jonathan Rosand, Yalda Jamshidi, Cornelia M van Duijn, Eleftheria Zeggini, J Wouter Jukema, Folkert W Asselbergs, Nilesh J Samani, Terho Lehtimäki, Vilmundur Gudnason, James Wilson, Steven A Lubitz, Stefan Kääb, Nona Sotoodehnia, Mark J Caulfield, Colin N A Palmer, Serena Sanna, Dennis O Mook-Kanamori, Panos Deloukas, Oluf Pedersen, Jerome I Rotter, Marcus Dörr, Chris J O'Donnell, Caroline Hayward, Dan E Arking, Charles Kooperberg, Pim van der Harst, Mark Eijgelsheim, Bruno H Stricker, Patricia B Munroe
Background Resting heart rate is a heritable trait, and an increase in heart rate is associated with increased mortality risk. GWAS analyses have found loci associated with resting heart rate, at the time of our study these loci explained 0.9% of the variation.Aim To discover new genetic loci associated with heart rate from Exome Chip meta-analyses.Methods Heart rate was measured from either elecrtrocardiograms or pulse recordings. We meta-analysed heart rate association results from 104,452 European-ancestry individuals from 30 cohorts, genotyped using the Exome Chip...
April 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28346524/rare-mutations-and-potentially-damaging-missense-variants-in-genes-encoding-fibrillar-collagens-and-proteins-involved-in-their-production-are-candidates-for-risk-for-preterm-premature-rupture-of-membranes
#5
Bhavi P Modi, Maria E Teves, Laurel N Pearson, Hardik I Parikh, Piya Chaemsaithong, Nihar U Sheth, Timothy P York, Roberto Romero, Jerome F Strauss
Preterm premature rupture of membranes (PPROM) is the leading identifiable cause of preterm birth with ~ 40% of preterm births being associated with PPROM and occurs in 1% - 2% of all pregnancies. We hypothesized that multiple rare variants in fetal genes involved in extracellular matrix synthesis would associate with PPROM, based on the assumption that impaired elaboration of matrix proteins would reduce fetal membrane tensile strength, predisposing to unscheduled rupture. We performed whole exome sequencing (WES) on neonatal DNA derived from pregnancies complicated by PPROM (49 cases) and healthy term deliveries (20 controls) to identify candidate mutations/variants...
2017: PloS One
https://www.readbyqxmd.com/read/28345240/prenatal-dna-sequencing-clinical-counseling-and-diagnostic-laboratory-considerations
#6
Ahmad N Abou Tayoun, Nancy B Spinner, Heidi L Rehm, Robert C Green, Diana W Bianchi
Clinical diagnostic laboratories are producing next-generation sequencing-based test results that are becoming increasingly incorporated into patient care. Whole genome and exome sequencing on fetal material derived from amniocytes, chorionic villi, or products of conception is starting to be offered clinically in specialized centers, but it has not yet become routine practice. The technical, interpretation, and ethical challenges are greatest in the area of prenatal medicine because the fetus has a limited health history, and the physical examination is only indirectly available via prenatal sonography...
March 27, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#7
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28318499/loss-of-function-mutations-in-lgi4-a-secreted-ligand-involved-in-schwann-cell-myelination-are-responsible-for-arthrogryposis-multiplex-congenita
#8
Shifeng Xue, Jérôme Maluenda, Florent Marguet, Mohammad Shboul, Loïc Quevarec, Carine Bonnard, Alvin Yu Jin Ng, Sumanty Tohari, Thong Teck Tan, Mung Kei Kong, Kristin G Monaghan, Megan T Cho, Carly E Siskind, Jacinda B Sampson, Carolina Tesi Rocha, Fawaz Alkazaleh, Marie Gonzales, Luc Rigonnot, Sandra Whalen, Marta Gut, Ivo Gut, Martine Bucourt, Byrappa Venkatesh, Annie Laquerrière, Bruno Reversade, Judith Melki
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome sequencing in four unrelated multiplex families presenting with severe AMC, we identified biallelic loss-of-function mutations in LGI4 (leucine-rich glioma-inactivated 4). LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons...
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28295209/a-nonsense-mutation-in-cep55-defines-a-new-locus-for-a-meckel-like-syndrome-an-autosomal-recessive-lethal-fetal-ciliopathy
#9
Marie-Louise Bondeson, Katharina Ericson, Sanna Gudmundsson, Adam Ameur, Fredrik Pontén, Jan Wesström, Carina Frykholm, Maria Wilbe
Mutations in genes involved in the cilium-centrosome complex are called ciliopathies. Meckel-Gruber syndrome (MKS) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, including renal cystic dysplasia, occipital encephalocele and polydactyly. Several genes have previously been associated with MKS and MKS-like phenotypes, but there are still genes remaining to be discovered. We have used whole exome sequencing (WES) to uncover the genetics of a suspected autosomal recessive Meckel syndrome phenotype in a family with two affected fetuses...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28265396/prenatal-diagnosis-of-x-linked-myopathy-associated-with-a-vma21-gene-mutation-afforded-through-a-novel-targeted-exome-sequencing-strategy-applied-in-fetuses-with-abnormal-ultrasound-findings
#10
Christopher Konialis, Efstratios Assimakopoulos, Birgitta Hagnefelt, Sophia Karapanou, Alexandros Sotiriadis, Constantinos Pangalos
Fetal malformations detected through routine prenatal ultrasound examination comprise a heterogeneous group potentially associated with genetic disorders where the underlying cause is difficult to establish. We present the prenatal diagnosis of a rare X-linked myopathy involving a new VMA21 gene mutation, detected through a novel prenatal exome sequencing-based approach.
March 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28212192/genetic-control-of-erythropoiesis
#11
Laxminath Tumburu, Swee Lay Thein
PURPOSE OF REVIEW: The discovery of several genetic variants associated with erythroid traits and subsequent elucidation of their functional mechanisms are exemplars of the power of the new genetic and genomic technology. The present review highlights findings from recent genetic studies related to the control of erythropoiesis and dyserythropoiesis, and fetal hemoglobin, an erythroid-related trait. RECENT FINDINGS: Identification of the genetic modulators of erythropoiesis involved two approaches: genome-wide association studies (GWASs) using single nucleotide polymorphism (SNP) arrays that revealed the common genetic variants associated with erythroid phenotypes (hemoglobin, red cell count, MCV, MCH) and fetal hemoglobin; and massive parallel sequencing such as whole genome sequencing (WGS) and whole exome sequencing (WES) that led to the discovery of the rarer variants (GFI1B, SBDS, RPS19, PKLR, EPO, EPOR, KLF1, GATA1)...
May 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28211990/homozygous-mutation-in-prune1-in-an-oji-cree-male-with-a-complex-neurological-phenotype
#12
Gregory Costain, Andrea Shugar, Pradeep Krishnan, Saadet Mahmutoglu, Suzanne Laughlin, Peter Kannu
The PRUNE1 gene encodes a member of the phosphoesterases (DHH) protein superfamily that is highly expressed in the human fetal brain and involved in the regulation of cell migration. Homozygous or compound heterozygous PRUNE1 mutations were recently identified in five individuals with brain malformations from four families. We present a case of a 2-year-old male with a complex neurological phenotype and abnormalities on brain MRI. Re-annotation of clinical whole-exome sequencing data revealed a homozygous likely pathogenic variant in PRUNE1 (c...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27933661/mutations-in-the-neb-gene-cause-fetal-akinesia-arthrogryposis-multiplex-congenita
#13
Michal Feingold-Zadok, David Chitayat, Karen Chong, Marie Injeyan, Patrick Shannon, Daphne Chapmann, Ron Maymon, Nir Pillar, Orit Reish
OBJECTIVE: We studied a series of patients with fetal akinesia deformation sequence (FADS)/arthrogryposis multiplex congenita (AMC), with nemaline bodies on muscle specimens, which revealed mutations in the NEB gene. METHOD: We pathologically assessed seven cases from three families, who presented with AMC/FADS. Targeted genetic analysis for Ashkenazi Jewish mutation (in relevant patients) was followed by next-generation sequencing and multiplex ligation-dependent probe amplification...
December 9, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27864101/targeted-exome-sequencing-identifies-novel-compound-heterozygous-mutations-in-p3h1-in-a-fetus-with-osteogenesis-imperfecta-type-viii
#14
Yanru Huang, Libin Mei, Weigang Lv, Haoxian Li, Rui Zhang, Qian Pan, Hu Tan, Jing Guo, Xiaomei Luo, Chen Chen, Desheng Liang, Lingqian Wu
Osteogenesis imperfecta (OI) is a highly clinically and genetically heterogeneous group of disorders. It is difficult to identify severe OI in the perinatal period. Here, a Chinese woman with a suspected history of fetal OI was referred to our institution at 19weeks of gestation, due to ultrasound inspection during antenatal screening, which revealed bulbous metaphyses, short humeri, and short thick bent femora in the fetus. Using targeted exome sequencing of 248 genes known to be involved in skeletal system diseases, we identified novel compound heterozygous mutation in the P3H1 gene in the fetus with OI type VIII: c...
January 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27853526/recent-advances-in-prenatal-genetic-screening-and-testing
#15
REVIEW
Ignatia B Van den Veyver
The introduction of new technologies has dramatically changed the current practice of prenatal screening and testing for genetic abnormalities in the fetus. Expanded carrier screening panels and non-invasive cell-free fetal DNA-based screening for aneuploidy and single-gene disorders, and more recently for subchromosomal abnormalities, have been introduced into prenatal care. More recently introduced technologies such as chromosomal microarray analysis and whole-exome sequencing can diagnose more genetic conditions on samples obtained through amniocentesis or chorionic villus sampling, including many disorders that cannot be screened for non-invasively...
2016: F1000Research
https://www.readbyqxmd.com/read/27836978/a-homozygous-nobox-truncating-variant-causes-defective-transcriptional-activation-and-leads-to-primary-ovarian-insufficiency
#16
Lin Li, Binbin Wang, Wei Zhang, Beili Chen, Minna Luo, Jing Wang, Xi Wang, Yunxia Cao, Kehkooi Kee
STUDY QUESTION: Does a novel homozygous NOBOX truncating variant, identified in whole exome sequencing (WES) of patients with primary ovarian insufficiency (POI), cause defective transcriptional activation of multiple oocyte-related genes? SUMMARY ANSWER: A novel homozygous truncating mutation of NOBOX was confirmed to exhibit a loss-of-function effect using well-defined molecular and functional analyses. WHAT IS KNOWN ALREADY: Several NOBOX mutations have been reported to be associated with POI but all of them are heterozygous mutations...
January 2017: Human Reproduction
https://www.readbyqxmd.com/read/27788041/fetal-dysmorphology-still-an-essential-art-analysis-of-the-limitations-of-microarray-in-a-fetal-population-and-a-look-toward-the-genome-sequencing-era
#17
Elaine Fletcher, Mary Porteous, Eddy Maher, Kathryn J McKenzie, Margaret J Evans
Cytogenomic microarray allows assessment of the genome at higher resolutions than traditional karyotyping. The objective of this study is to evaluate the utility of microarray in a routine fetal autopsy setting before the advent of routine fetal exome / genome sequencing and the issues these technologies may generate. A systematic review of fetal post mortems performed between Jan 2011 - Dec 2014 was undertaken. Cases where there was no consent for audit, research or genetic testing were excluded as were cases referred to the Procurator Fiscal, stillbirths and neonatal deaths...
October 27, 2016: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/27749392/combined-ultrasound-and-exome-sequencing-approach-recognizes-opitz-g-bbb-syndrome-in-two-malformed-fetuses
#18
Anna Maria Pinto, Valentina Imperatore, Laura Bianciardi, Margherita Baldassarri, Paolo Galluzzi, Simone Furini, Giovanni Centini, Alessandra Renieri, Francesca Mari
Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal...
January 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/27663074/genetic-analysis-of-hyperemesis-gravidarum-reveals-association-with-intracellular-calcium-release-channel-ryr2
#19
Marlena Schoenberg Fejzo, Ronny Myhre, Lucía Colodro-Conde, Kimber W MacGibbon, Janet S Sinsheimer, M V Prasad Linga Reddy, Päivi Pajukanta, Dale R Nyholt, Margaret J Wright, Nicholas G Martin, Stephanie M Engel, Sarah E Medland, Per Magnus, Patrick M Mullin
Hyperemesis Gravidarum (HG), severe nausea/vomiting in pregnancy (NVP), can cause poor maternal/fetal outcomes. Genetic predisposition suggests the genetic component is essential in discovering an etiology. We performed whole-exome sequencing of 5 families followed by analysis of variants in 584 cases/431 controls. Variants in RYR2 segregated with disease in 2 families. The novel variant L3277R was not found in any case/control. The rare variant, G1886S was more common in cases (p = 0.046) and extreme cases (p = 0...
September 20, 2016: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/27645814/cell-free-fetal-dna-testing-for-prenatal-diagnosis
#20
REVIEW
S Drury, M Hill, L S Chitty
Prenatal diagnosis and screening have undergone rapid development in recent years, with advances in molecular technology driving the change. Noninvasive prenatal testing (NIPT) for Down syndrome as a highly sensitive screening test is now available worldwide through the commercial sector with many countries moving toward implementation into their publically funded maternity systems. Noninvasive prenatal diagnosis (NIPD) can now be performed for definitive diagnosis of some recessive and X-linked conditions, rather than just paternally inherited dominant and de novo conditions...
2016: Advances in Clinical Chemistry
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