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https://www.readbyqxmd.com/read/29220673/de-novo-variants-in-gria4-lead-to-intellectual-disability-with-or-without-seizures-and-gait-abnormalities
#1
Sonja Martin, Adam Chamberlin, Deepali N Shinde, Maja Hempel, Tim M Strom, Allison Schreiber, Jessika Johannsen, Lilian Bomme Ousager, Martin J Larsen, Lars Kjaersgaard Hansen, Ali Fatemi, Julie S Cohen, Johannes Lemke, Kristina P Sørensen, Katherine L Helbig, Davor Lessel, Rami Abou Jamra
Using trio whole-exome sequencing, we have identified de novo heterozygous pathogenic variants in GRIA4 in five unrelated individuals with intellectual disability and other symptoms. GRIA4 encodes an AMPA receptor subunit known as GluR4, which is found on excitatory glutamatergic synapses and is important for learning and memory. Four of the variants are located in the highly conserved SYTANLAAF motif in the transmembrane protein M3, and the fifth is in an extra-cellular domain. Molecular modeling of the altered protein showed that three of the variants in the SYTANLAAF motif orient toward the center of the pore region and most likely lead to disturbance of the gating mechanism...
December 7, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29220607/case-of-cone-dystrophy-with-normal-fundus-appearance-associated-with-biallelic-poc1b-variants
#2
Azusa Kominami, Shinji Ueno, Taro Kominami, Ayami Nakanishi, Yasuki Ito, Kaoru Fujinami, Kazushige Tsunoda, Takaaki Hayashi, Sachiko Kikuchi, Shuhei Kameya, Takeshi Iwata, Hiroko Terasaki
BACKGROUND: Biallelic variants of POC1B were recently reported to cause autosomal recessive non-syndromic cone dystrophy. However, the number of studies supporting this is limited, and the clinical phenotypes of cone dystrophy have not been definitively determined. The purpose of this study was to report the phenotype of a case of POC1B-associated cone dystrophy. MATERIALS AND METHODS: The medical chart of one case diagnosed with cone dystrophy was reviewed. RESULTS: The patient was a 20-year-old Japanese man whose chief complaint was a progressive decrease in his central vision...
December 8, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29217415/arima-syndrome-caused-by-cep290-specific-variant-and-accompanied-with-pathological-cilium-clinical-comparison-with-joubert-syndrome-and-its-related-diseases
#3
Masayuki Itoh, Shuhei Ide, Yuji Iwasaki, Takashi Saito, Keishi Narita, Hongmei Dai, Shinji Yamakura, Takeki Furue, Hirotsugu Kitayama, Keiko Maeda, Eihiko Takahashi, Kiyoshi Matsui, Yu-Ichi Goto, Sen Takeda, Masataka Arima
OBJECTIVE: Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD. PATIENTS AND METHODS: We performed genetic analyses of 4 AS patients of 3 families with combination of whole-exome sequencing and Sanger sequencing...
December 4, 2017: Brain & Development
https://www.readbyqxmd.com/read/29215096/exome-sequencing-revealed-a-novel-nonsense-variant-in-alx3-gene-underlying-frontorhiny
#4
Asmat Ullah, Muhammad Umair, Umm E-Kalsoom, Shaheen Shahzad, Sulman Basit, Wasim Ahmad
Frontorhiny is one of the two forms of mid-facial malformations characterized by ocular hypertelorism, wide and short nasal ridge, bifid nasal tip, broad columella, widely separated nares, long and wide philtrum and V-shaped hairline. Sometimes these phenotypes are associated with ptosis and midline dermoid cysts. Frontorhiny inherits in an autosomal recessive pattern. Sequence variants in the Aristaless-like homeobox 3 (ALX3) gene underlying frontorhiny have been reported previously. Here, in the present study, we have investigated four patients in a consanguineous family of Pakistani origin segregating frontorhiny in autosomal recessive manner...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29215095/homozygosity-for-a-nonsense-variant-in-aimp2-is-associated-with-a-progressive-neurodevelopmental-disorder-with-microcephaly-seizures-and-spastic-quadriparesis
#5
Anju Shukla, Aneek Das Bhowmik, Malavika Hebbar, Kadavigere V Rajagopal, Katta M Girisha, Neerja Gupta, Ashwin Dalal
We ascertained two unrelated consanguineous families with two affected children each having microcephaly, refractory seizures, intellectual disability, and spastic quadriparesis. Magnetic resonance imaging showed atrophy of cerebrum, cerebellum and spinal cord, prominent cisterna magna, symmetric T2 hypo-intensities in the bilateral basal ganglia and thinning of corpus callosum. Whole-exome sequencing of three affected individuals revealed c.105C>A [p.(Tyr35Ter)] variant in AIMP2. The variant lies in a common homozygous region of 940 kb on chromosome 7 and is likely to have been inherited from a common ancestor...
November 16, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29214085/sox5-null-heterozygous-mutation-in-a-family-with-adult-onset-hyperkinesia-and-behavioral-abnormalities
#6
Michael Zech, Katharina Poustka, Sylvia Boesch, Riccardo Berutti, Tim M Strom, Wolfgang Grisold, Werner Poewe, Juliane Winkelmann
SOX5 encodes a conserved transcription factor implicated in cell-fate decisions of the neural lineage. SOX5 haploinsufficiency induced by larger genomic deletions has been linked to a recognizable pediatric syndrome combining developmental delay with intellectual disability, mild dysmorphism, inadequate behavior, and variable additional features including motor disturbances. In contrast to SOX5-involving deletions, examples of pathogenic SOX5 small coding variations are sparse in the literature and have been described only in singular cases with phenotypic abnormalities akin to those seen in the SOX5 microdeletion syndrome...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/29213343/exome-sequencing-characterizes-the-somatic-mutation-spectrum-of-early-serrated-lesions-in-a-patient-with-serrated-polyposis-syndrome-sps
#7
Sukanya Horpaopan, Jutta Kirfel, Sophia Peters, Michael Kloth, Robert Hüneburg, Janine Altmüller, Dmitriy Drichel, Margarete Odenthal, Glen Kristiansen, Christian Strassburg, Jacob Nattermann, Per Hoffmann, Peter Nürnberg, Reinhard Büttner, Holger Thiele, Philip Kahl, Isabel Spier, Stefan Aretz
Background: Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway) of CRC formation has been postulated, however, to date only few molecular signatures of serrated neoplasia (BRAF, KRAS, RNF43 mutations, CpG Island Methylation, MSI) have been described in a subset of SPS patients and neither the etiology of the syndrome nor the distinct genetic alterations during tumorigenesis have been identified...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29212899/novel-mutation-in-flnc-filamin-c-causes-familial-restrictive-cardiomyopathy
#8
Nathan R Tucker, Micheal A McLellan, Dongjian Hu, Jiangchuan Ye, Victoria A Parsons, Robert W Mills, Sebastian Clauss, Elena Dolmatova, Marisa A Shea, David J Milan, Nandita S Scott, Mark Lindsay, Steven A Lubitz, Ibrahim J Domian, James R Stone, Honghuang Lin, Patrick T Ellinor
BACKGROUND: Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by impaired diastolic ventricular function resulting in a poor clinical prognosis. Rarely, heritable forms of RCM have been reported, and mutations underlying RCM have been identified in genes that govern the contractile function of the cardiomyocytes. METHODS AND RESULTS: We evaluated 8 family members across 4 generations by history, physical examination, electrocardiography, and echocardiography...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29211946/a-rare-anos1-variant-in-siblings-with-kallmann-syndrome-identified-by-whole-exome-sequencing
#9
D M Lopategui, A J Griswold, H Arora, R I Clavijo, M Tekin, R Ramasamy
Kallmann syndrome is a rare genetic condition causing congenital hypogonadotropic hypogonadism. It presents with delayed puberty, anosmia, and infertility. Here, we set out to identify a causative DNA variant for Kallmann syndrome in two affected brothers of Hispanic ancestry. The male siblings presented with a clinical diagnosis of Kallmann syndrome (anosmia, delayed puberty, azoospermia, and undetectable luteinizing hormone and follicle stimulating hormone levels). Genetic variations were investigated by whole exome sequencing...
December 6, 2017: Andrology
https://www.readbyqxmd.com/read/29211899/exome-sequencing-and-genotyping-identify-a-rare-variant-in-nlrp7-gene-associated-with-ulcerative-colitis
#10
Alexandros Onoufriadis, Kristina Stone, Antreas Katsiamides, Ariella Amar, Yasmin Omar, Katrina de Lange, Kirstin Taylor, Jeffrey C Barrett, Richard Pollok, Bu'Hussain Hayee, John C Mansfield, Jeremy D Sanderson, Michael A Simpson, Christopher G Mathew, Natalie J Prescott
Background and aims: Although genome-wide association studies (GWAS) in inflammatory bowel disease (IBD) have identified a large number of common disease susceptibility alleles for both Crohn's disease (CD) and ulcerative colitis (UC), a substantial fraction of IBD heritability remains unexplained, suggesting that rare coding genetic variants may also have a role in pathogenesis. We used high-throughput sequencing in families with multiple cases of IBD, followed by genotyping of cases and controls, to investigate whether rare protein altering genetic variants are associated with susceptibility to IBD...
December 4, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29211846/slc25a10-biallelic-mutations-in-intractable-epileptic-encephalopathy-with-complex-i-deficiency
#11
Giuseppe Punzi, Vito Porcelli, Matteo Ruggiu, Faruk Hossain, Alessio Menga, Pasquale Scarcia, Alessandra Castegna, Ruggiero Gorgoglione, Ciro L Pierri, Luna Laera, Francesco M Lasorsa, Eleonora Paradies, Isabella Pisano, Carlo M T Marobbio, Eleonora Lamantea, Daniele Ghezzi, Valeria Tiranti, Sergio Giannattasio, Maria A Donati, Renzo Guerrini, Luigi Palmieri, Ferdinando Palmieri, Anna De Grassi
Mitochondrial diseases are a plethora of inherited neuromuscular disorders sharing defects in mitochondrial respiration, but largely different from one another for genetic basis and pathogenic mechanism. Whole exome sequencing was performed in a familiar trio (trio-WES) with a child affected by severe epileptic encephalopathy associated to respiratory complex I deficiency and mitochondrial DNA depletion in skeletal muscle. By trio-WES we identified biallelic mutations in SLC25A10, a nuclear gene encoding a member of the mitochondrial carrier family...
December 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29210071/whole-exome-sequencing-of-sickle-cell-disease-patients-with-hyperhemolysis-syndrome-suggests-a-role-for-rare-variation-in-disease-predisposition
#12
Savannah Mwesigwa, Joann M Moulds, Alice Chen, Jonathan Flanagan, Vivien A Sheehan, Alex George, Neil A Hanchard
BACKGROUND: Hyperhemolysis syndrome (HHS) is an uncommon, but life-threatening, transfusion-related complication of red blood cell transfusion. HHS has predominantly been described in patients with sickle cell disease (SCD) and is difficult to diagnose and treat. The pathogenesis of HHS, including its occurrence in only a subset of apparently susceptible individuals, is poorly understood. We undertook whole-exome sequencing (WES) of 12 SCD-HHS patients to identify shared genetic variants that might be relevant to the development of HHS...
December 6, 2017: Transfusion
https://www.readbyqxmd.com/read/29209898/clinical-application-of-next-generation-sequencing-in-hereditary-spinocerebellar-ataxia-increasing-the-diagnostic-yield-and-broadening-the-ataxia-spasticity-spectrum-a-retrospective-analysis
#13
REVIEW
Daniele Galatolo, Alessandra Tessa, Alessandro Filla, Filippo M Santorelli
One of the hardest challenges in medical genetics is to reach a molecular diagnosis in the presence of rare brain disorders. Hereditary spinocerebellar ataxia (HA), characterized by high clinical and genetic heterogeneity, is among the diseases that present this challenge. HA can have features overlapping with those of other neurological diseases, especially hereditary spastic paraplegia (HSP), as routine clinical application of next generation sequencing (NGS) has confirmed. This article reviews different NGS methods applied in heterogeneous cohorts of patients with suspected HA and suggests that exome sequencing should be considered the first-tier genetic approach in this setting...
December 6, 2017: Neurogenetics
https://www.readbyqxmd.com/read/29208948/a-novel-mutation-in-slc1a3-causes-episodic-ataxia
#14
Kazuhiro Iwama, Aya Iwata, Masaaki Shiina, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kazuhiro Ogata, Shuichi Ito, Takeshi Mizuguchi, Naomichi Matsumoto
Episodic ataxias (EAs) are rare channelopathies characterized by recurrent ataxia and vertigo, having eight subtypes. Mutated genes were found in four of these eight subtypes (EA1, EA2, EA5, and EA6). To date, only four missense mutations in the Solute Carrier Family 1 Member 3 gene (SLC1A3) have been reported to cause EA6. SLC1A3 encodes excitatory amino-acid transporter 1, which is a trimeric transmembrane protein responsible for glutamate transport in the synaptic cleft. In this study, we found a novel missense mutation, c...
December 5, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29207948/homozygous-grid2-missense-mutation-predicts-a-shift-in-the-d-serine-binding-domain-of-glud2-in-a-case-with-generalized-brain-atrophy-and-unusual-clinical-features
#15
Zafar Ali, Shumaila Zulfiqar, Joakim Klar, Johan Wikström, Farid Ullah, Ayaz Khan, Uzma Abdullah, Shahid Baig, Niklas Dahl
BACKGROUND: Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutations were recently reported in rare cases with cerebellar syndrome and variable degree of ataxia, ocular symptoms, hypotonia and developmental delay. CASE PRESENTATION: We report on a consanguineous family with autosomal recessive childhood onset of slowly progressive cerebellar ataxia and delayed psychomotor development in three siblings...
December 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29206995/concordance-of-circulating-tumor-dna-and-matched-metastatic-tissue-biopsy-in-prostate-cancer
#16
Alexander W Wyatt, Matti Annala, Rahul Aggarwal, Kevin Beja, Felix Feng, Jack Youngren, Adam Foye, Paul Lloyd, Matti Nykter, Tomasz M Beer, Joshi J Alumkal, George V Thomas, Robert E Reiter, Matthew B Rettig, Christopher P Evans, Allen C Gao, Kim N Chi, Eric J Small, Martin E Gleave
Background: Real-time knowledge of the somatic genome can influence management of patients with metastatic castration-resistant prostate cancer (mCRPC). While routine metastatic tissue biopsy is challenging in mCRPC, plasma circulating tumor DNA (ctDNA) has emerged as a minimally invasive tool to sample the tumor genome. However, no systematic comparisons of matched "liquid" and "solid" biopsies have been performed that would enable ctDNA profiling to replace the need for direct tissue sampling...
December 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29206863/blood-collection-in-cell-stabilizing-tubes-does-not-impact-germline-dna-quality-for-pediatric-patients
#17
Bruce M Wollison, Edwin Thai, Aimee Mckinney, Abigail Ward, Andrea Clapp, Catherine Clinton, Anwesha Nag, Aaron R Thorner, Julie M Gastier-Foster, Brian D Crompton
OBJECTIVES: Liquid biopsy technologies allow non-invasive tumor profiling for patients with solid tumor malignancies by sequencing circulating tumor DNA. These studies may be useful in risk-stratification, monitoring for relapse, and understanding tumor evolution. The quality of DNA obtained for these studies is improved when blood samples are collected in tubes that stabilizing white blood cells (WBC). However, ongoing germline research in pediatric oncology generally requires obtaining blood samples in EDTA tubes, which do not contain a WBC-stabilizing preservative...
2017: PloS One
https://www.readbyqxmd.com/read/29206688/current-developments-in-the-genetics-of-rett-and-rett-like-syndrome
#18
Friederike Ehrhart, Nasim Bahram Sangani, Leopold M G Curfs
PURPOSE OF REVIEW: This article reviews the current molecular genetic studies, which investigate the genetic causes of Rett syndrome or Rett-like phenotypes without a classical MECP2 mutation. RECENT FINDINGS: As next generation sequencing becomes broadly available, especially whole exome sequencing is used in clinical diagnosis of the genetic causes of a wide spectrum of intellectual disability, autism, and encephalopathies. Patients who were diagnosed with Rett syndrome or Rett-like syndrome because of their phenotype but were negative for mutations in the MECP2, CDKL5 or FOXG1 genes were subjected to whole exome sequencing and the results of the last few years revealed yet 69 different genes...
December 4, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/29206278/clinical-sequencing-from-raw-data-to-diagnosis-with-lifetime-value
#19
REVIEW
S M Caspar, N Dubacher, A M Kopps, J Meienberg, C Henggeler, G Matyas
High-throughput sequencing (HTS) has revolutionized genetics by enabling the detection of sequence variants at hitherto unprecedented large scale. Despite these advances, however, there are still remaining challenges in the complete coverage of targeted regions (genes, exome or genome) as well as in HTS data analysis and interpretation. Moreover, it is easy to get overwhelmed by the plethora of available methods and tools for HTS. Here, we review the step-by-step process from the generation of sequence data to molecular diagnosis of Mendelian diseases...
December 5, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29205997/who-would-benefit-from-exome-sequencing
#20
Janna Saarela, Kaisa Kettunen
Next-generation sequencing methods have revolutionized the possibilities for analyzing the human genome. Sequencing the exome, the protein-encoding portion of the genome, is used, in clinical medicine, especially in the diagnosis of rare hereditary diseases, congenital developmental disorders and cancer. Using exome sequencing as a diagnostic test is justified when the results could lead to an accurate diagnosis, significantly influence the treatment and genetic counseling. It is a reliable method for detecting single base mutations as minor deletions and insertions...
2017: Duodecim; Lääketieteellinen Aikakauskirja
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