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https://www.readbyqxmd.com/read/28539581/peripherin-2-and-rom-1-have-opposing-effects-on-rod-outer-segment-targeting-of-retinitis-pigmentosa-linked-peripherin-2-mutants
#1
Sybille Böhm, Lisa M Riedmayr, O N Phuong Nguyen, Andreas Gießl, Toni Liebscher, Elisabeth S Butz, Christian Schön, Stylianos Michalakis, Christian Wahl-Schott, Martin Biel, Elvir Becirovic
Mutations in the photoreceptor outer segment (OS) specific peripherin-2 lead to autosomal dominant retinitis pigmentosa (adRP). By contrast, mutations in the peripherin-2 homolog Rom-1 cause digenic RP in combination with certain heterozygous mutations in peripherin-2. The mechanisms underlying the differential role of peripherin-2 and Rom-1 in RP pathophysiology remained elusive so far. Here, focusing on two adRP-linked peripherin-2 mutants, P210L and C214S, we analyzed the binding characteristics, protein assembly, and rod OS targeting of wild type (per(WT)), mutant peripherin-2 (per(MT)), or Rom-1 complexes, which can be formed in patients heterozygous for peripherin-2 mutations...
May 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28530678/the-complex-genetics-of-hypoplastic-left-heart-syndrome
#2
Xiaoqin Liu, Hisato Yagi, Shazina Saeed, Abha S Bais, George C Gabriel, Zhaohan Chen, Kevin A Peterson, You Li, Molly C Schwartz, William T Reynolds, Manush Saydmohammed, Brian Gibbs, Yijen Wu, William Devine, Bishwanath Chatterjee, Nikolai T Klena, Dennis Kostka, Karen L de Mesy Bentley, Madhavi K Ganapathiraju, Phillip Dexheimer, Linda Leatherbury, Omar Khalifa, Anchit Bhagat, Maliha Zahid, William Pu, Simon Watkins, Paul Grossfeld, Stephen A Murray, George A Porter, Michael Tsang, Lisa J Martin, D Woodrow Benson, Bruce J Aronow, Cecilia W Lo
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28510639/toward-an-elucidation-of-the-molecular-genetics-of-inherited-retinal-degenerations
#3
G Jane Farrar, Matthew Carrigan, Adrian Dockery, Sophia Millington Ward, Arpad Palfi, Naomi Chadderton, Marian Humphries, Anna Sophia Kiang, Paul F Kenna, Pete Humphries
While individually classed as rare diseases, hereditary retinal degenerations (IRDs) are the major cause of registered visual handicap in the developed world. Given their hereditary nature, some degree of intergenic heterogeneity was expected, with genes segregating in autosomal dominant, recessive, X-linked recessive, and more rarely in digenic or mitochondrial modes. Today, it is recognized that IRDs, as a group, represent one of the most genetically diverse of hereditary conditions - at least 260 genes having been implicated, with 70 genes identified in the most common IRD, retinitis pigmentosa (RP)...
May 16, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28494446/mutation-load-of-multiple-ion-channel-gene-mutations-in-brugada-syndrome
#4
Francesca Gualandi, Fatima Zaraket, Michele Malagù, Giulia Parmeggiani, Cecilia Trabanelli, Sergio Fini, Xiao Dang, Xiaoming Wei, Mingyan Fang, Matteo Bertini, Roberto Ferrari, Alessandra Ferlini
Brugada syndrome is a primary arrhythmic syndrome that accounts for 20% of all sudden cardiac death cases in individuals with a structurally normal heart. Pathogenic variants associated with Brugada syndrome have been identified in over 19 genes, with SCN5A as a pivotal gene accounting for nearly 30% of cases. In contrast to other arrhythmogenic channelopathies (such as long QT syndrome), digenic inheritance has never been reported in Brugada syndrome. Exploring 66 cardiac genes using a new custom next-generation sequencing panel, we identified a double heterozygosity for pathogenic mutations in SCN5A and TRPM4 in a Brugada syndrome patient...
May 12, 2017: Cardiology
https://www.readbyqxmd.com/read/28453858/digenic-inheritance-of-prokr2-and-wdr11-mutations-in-pituitary-stalk-interruption-syndrome
#5
Shana E McCormack, Dong Li, Yeon Joo Kim, Ji Young Lee, Soo-Hyun Kim, Robert Rapaport, Michael A Levine
Context: Pituitary stalk interruption syndrome (PSIS, ORPHA95496) is a congenital defect of the pituitary gland characterized by the triad of a very thin/interrupted pituitary stalk, an ectopic (or absent) posterior pituitary gland, and hypoplasia or aplasia of the anterior pituitary gland. Complex genetic patterns of inheritance of this disorder are increasingly recognized. Objective: The objective of this study was to identify a genetic etiology of PSIS in an affected child...
April 27, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28360400/cdkn2a-and-mc1r-variants-found-in-cypriot-patients-diagnosed-with-cutaneous-melanoma
#6
Georgia Koulermou, Christos Shammas, Andreas Vassiliou, Tassos C Kyriakides, Constantina Costi, Vassos Neocleous, Leonidas A Phylactou, Maria Pantelidou
The prevalence of genetic variants associated to cutaneous melanoma (CM) has never been determined within Cypriot melanomas. This study evaluates the frequency of variants in cyclin-dependent kinase inhibitor 2A (CDKN2A) and melanocortin-1 receptor (MC1R) in 32 patients diagnosed with CM. Other characteristics and risk factors were also assessed. CDKN2A p.Ala148Thr was detected in three of 32 patients, while the control group revealed no variations within CDKN2A. MC1R screening in 32 patients revealed the following variations: p...
March 2017: Journal of Genetics
https://www.readbyqxmd.com/read/28360124/genetic-mutations-linked-to-parkinson-s-disease-differentially-control-nucleolar-activity-in-pre-symptomatic-mouse-models
#7
Valentin Evsyukov, Andrii Domanskyi, Holger Bierhoff, Suzana Gispert, Rasem Mustafa, Falk Schlaudraff, Birgit Liss, Rosanna Parlato
Genetic mutations underlying neurodegenerative disorders impair ribosomal DNA (rDNA) transcription suggesting that nucleolar dysfunction could be a novel pathomechanism in polyglutamine diseases and in certain forms of amyotrophic lateral sclerosis/frontotemporal dementia. Here, we investigated nucleolar activity in pre-symptomatic digenic models of Parkinson's disease (PD) that model the multifactorial aetiology of this disease. To this end, we analysed a novel mouse model mildly overexpressing mutant human α-synuclein (hA53T-SNCA) in a PTEN-induced kinase 1 (PINK1/PARK6) knockout background and mutant mice lacking both DJ-1 (also known as PARK7) and PINK1...
May 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28327142/exome-sequencing-identified-rare-variants-in-genes-hspg2-and-atp2b4-in-a-family-segregating-developmental-dysplasia-of-the-hip
#8
Sulman Basit, Alia M Albalawi, Essa Alharby, Khalid I Khoshhal
BACKGROUND: Developmental dysplasia of the hip (DDH) is a common pathological condition of the musculoskeletal system in infants which results in a congenital and developmental malformation of the hip joint. DDH is a spectrum of pathologies affecting the infant hip ranging from asymptomatic subtle radiographic signs through mild instability to frank dislocations with acetabular dysplasia. A Saudi family with three affected individuals with DDH was identified and genetic analysis was performed to detect the possible genetic defect(s) underlying DDH in the affected members of the family...
March 21, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28263784/putative-tmprss3-gjb2-digenic-inheritance-of-hearing-loss-detected-by-targeted-resequencing
#9
Maria Pia Leone, Pietro Palumbo, Rocco Ortore, Stefano Castellana, Orazio Palumbo, Salvatore Melchionda, Teresa Palladino, Raffaella Stallone, Tommaso Mazza, Roberto Cocchi, Massimo Carella
The paper describes a putative digenic form of deafness in two siblings affected by non-syndromic hereditary hearing loss, detected by a Targeted resequencing approach. Given that a previous paper suggested TMPRSS3 and GJB2 genes as responsible for a digenic form of hearing loss, our data support and reinforce this hypothesis.
March 3, 2017: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/28251098/digenic-heterozygous-mutations-in-eys-lrp5-in-a-chinese-family-with-retinitis-pigmentosa
#10
Feng-Juan Gao, Sheng-Hai Zhang, Jun-Yi Chen, Ge-Zhi Xu, Ji-Hong Wu
No abstract text is available yet for this article.
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28214896/the-genomic-landscape-of-pax5-ikzf1-and-cdkn2a-b-alterations-in-b-cell-precursor-acute-lymphoblastic-leukemia
#11
Zhishuo Ou, Maureen Sherer, Jane Casey, Heather A Bakos, Kathleen Vitullo, Jie Hu, Erika Friehling, Susanne M Gollin, Urvashi Surti, Svetlana A Yatsenko
We present a comprehensive comparison of PAX5,IKZF1, and CDKN2A/B abnormalities in 21 B-cell precursor acute lymphoblastic leukemia (B-ALL) patients studied by aCGH and gene-specific FISH assays. In our cohort of B-ALL patients, alterations of IKZF1, PAX5, and CDKN2A/B were detected by aCGH analysis in 43, 52, and 57% of samples, respectively. Deletions of IKZF1 were present in 9 samples, including 5 cases positive for both PAX5 and IKZF1 deletions, implying digenic impairment. Furthermore, all cases with IKZF1 deletions also had additional genomic alterations, including BCR-ABL1 gene fusions, PAX5 deletions, CDKN2A/B deletions, and FLT3 amplification...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28211206/variable-familial-exudative-vitreoretinopathy-in-a-family-harbouring-variants-in-both-fzd4-and-tspan12
#12
Patrik Schatz, Arif O Khan
PURPOSE: To report a family affected by familial exudative vitreoretinopathy (FEVR) in which more severe disease phenotypes segregated with digenic rather than monogenic variants in FEVR-related genes. METHODS: Phenotype was documented with high-resolution imaging of retinal structure and wide-field fundus photography. Next-generation sequencing (NGS) of known genes involved in FEVR was performed. RESULTS: Three affected individuals within a family with FEVR presented with variable disease severity...
February 16, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28177213/characterization-of-optically-and-electrically-evoked-dopamine-release-in-striatal-slices-from-digenic-knock-in-mice-with-dat-driven-expression-of-channelrhodopsin
#13
Brian O'Neill, Jyoti C Patel, Margaret E Rice
Fast-scan cyclic voltammetry (FCV) is an established method to monitor increases in extracellular dopamine (DA) concentration ([DA]o) in the striatum, which is densely innervated by DA axons. Ex vivo brain slice preparations provide an opportunity to identify endogenous modulators of DA release. For these experiments, local electrical stimulation is often used to elicit release of DA, as well as other transmitters, in the striatal microcircuitry; changes in evoked increases in [DA]o after application of a pharmacological agent (e...
February 15, 2017: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/28141509/development-validation-and-testing-costs-of-an-in-house-real-time-pcr-assay-for-the-detection-of-chlamydia-trachomatis
#14
Camila Gurgel Dos Santos, Meritxell Sabidó, André Luiz Leturiondo, Cynthia de Oliveira Ferreira, Thielle Pereira da Cruz, Adele Schwartz Benzaken
PURPOSE: To improve the screening of Chlamydia trachomatis(C. trachomatis) in Brazil, an accurate and affordable method is needed. The objective of this study was to develop and assess the performance and costs of a new in-house real-time PCR (qPCR) assay for the diagnosis of C. trachomatis infection. METHODOLOGY: Asymptomatic women aged 14-25 years who attended primary health services in Manaus, Brazil, were screened for C. trachomatis using the Digene Hybrid Capture II CT-ID (HCII CT-ID) DNA test...
March 2017: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/28134085/digenic-mefv-tnfrsf1a-autoinflammatory-syndrome-with-relapsing-aseptic-neutrophilic-meningitis-and-chronic-myelitis
#15
Anne Murarasu, Catherine Dodé, Guillaume Sarrabay, Isabelle Klein, Thomas Papo, Karim Sacré
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January 26, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28125549/o-001-a-diagnostic-approach-of-immune-dysregulation-on-very-early-onset-ibd
#16
Judith Kelsen, Noor Dawany, Maire Conrad, Kathleen Sullivan, Edward Behrens, Marcella Devoto
BACKGROUND: Immune deficiencies have been associated with inflammatory bowel disease (IBD), and are reported to be particularly enriched in patients with very early-onset IBD (VEO-IBD). However, the actual frequency of primary immune deficiencies in an unselected cohort of patients with VEO-IBD is not known, nor is the optimal screening approach for this population. This study was undertaken to identify a diagnostic approach that will enhance identification of children with primary immune deficiencies who present with VEO-IBD...
February 2017: Inflammatory Bowel Diseases
https://www.readbyqxmd.com/read/28053051/rom1-converts-y141c-prph2-associated-pattern-dystrophy-to-retinitis-pigmentosa
#17
Shannon M Conley, Michael W Stuck, Jamie N Watson, Muna I Naash
Mutations in peripherin 2 (PRPH2), also known as retinal degeneration slow/RDS, lead to various retinal degenerations including retinitis pigmentosa (RP) and macular/pattern dystrophy (MD/PD). PRPH2-associated disease is often characterized by a phenotypic variability even within families carrying the same mutation, raising interest in potential modifiers. PRPH2 oligomerizes with its homologue rod outer segment (OS) membrane protein 1 (ROM1), and non-pathogenic PRPH2/ROM1 mutations, when present together, lead to digenic RP...
February 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28018608/digenic-mutations-of-human-ocrl-paralogs-in-dent-s-disease-type-2-associated-with-chiari-i-malformation
#18
Daniel Duran, Sheng Chih Jin, Tyrone DeSpenza, Carol Nelson-Williams, Andrea G Cogal, Elizabeth W Abrash, Peter C Harris, John C Lieske, Serena Je Shimshak, Shrikant Mane, Kaya Bilguvar, Michael L DiLuna, Murat Günel, Richard P Lifton, Kristopher T Kahle
OCRL1 and its paralog INPP5B encode phosphatidylinositol 5-phosphatases that localize to the primary cilium and have roles in ciliogenesis. Mutations in OCRL1 cause the X-linked Dent disease type 2 (DD2; OMIM# 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variable presence of cataracts, glaucoma and intellectual disability without structural brain anomalies. Disease-causing mutations in INPP5B have not been described in humans. Here, we report the case of an 11-year-old boy with short stature and an above-average IQ; severe proteinuria, hypercalciuria and osteopenia resulting in a vertebral compression fracture; and Chiari I malformation with cervico-thoracic syringohydromyelia requiring suboccipital decompression...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/28012523/digenic-mutations-involving-both-the-bsnd-and-gjb2-genes-detected-in-bartter-syndrome-type-iv
#19
Hong-Han Wang, Yong Feng, Hai-Bo Li, Hong Wu, Ling-Yun Mei, Xing-Wei Wang, Lu Jiang, Chu-Feng He
Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the abovementioned causative genes. To investigate the underlying mutations in a Chinese patient with Bartter syndrome type IV, genetic analysis of BSND, CLCNKA, CLCNKB and GJB2 were performed by polymerase chain reaction and direct sequencing...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/27994174/evidence-of-digenic-inheritance-in-autoinflammation-associated-genes
#20
Vassos Neocleous, Stefania Byrou, Meropi Toumba, Constantina Costi, Christos Shammas, Christina Kyriakou, Violetta Christophidou-Anastasiadou, George A Tanteles, Adamos Hadjipanayis, Leonidas A Phylactou
Familial Mediterranean fever (FMF) has traditionally been considered as a monogenic autosomal recessive disorder caused by mutations in the MEFV gene with highest incidence among Mediterranean populations. In a considerable number of patients with typical FMF, only one MEFV mutation was identified and the possibility that more than one autoinflammatory gene may be responsible for their disease was investigated. In the present study, an extensive search for possible mutations in three hereditary recurrent fever (HRF) genes was performed in 128 MEFV heterozygous Greek-Cypriots clinically diagnosed based on their phenotype with FMF-like disease from a previous study...
December 2016: Journal of Genetics
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