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Clinical Genetics

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https://www.readbyqxmd.com/read/29676012/further-audiovestibular-characterization-of-dfnb77-caused-by-deleterious-variants-in-loxhd1-and-investigation-into-the-involvement-of-fuchs-corneal-dystrophy
#1
M Wesdorp, V Schreur, A J Beynon, J Oostrik, J M van de Kamp, M W Elting, M-J H van den Boogaard, I Feenstra, R J C Admiraal, H P M Kunst, C B Hoyng, H Kremer, H G Yntema, R J E Pennings, M Schraders
This study focuses on further characterization of the audiovestibular phenotype and on genotype-phenotype correlations of DFNB77, an autosomal recessive type of hearing impairment (HI). DFNB77 is associated with disease-causing variants in LOXHD1, and is genetically and phenotypically highly heterogeneous. Heterozygous deleterious missense variants in LOXHD1 have been associated with late-onset Fuchs corneal dystrophy (FCD). However, up to now screening for FCD of heterozygous carriers in DFNB77 families has not been reported...
April 19, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29675921/clinical-and-molecular-insights-into-glanzmann-s-thrombasthenia-in-china
#2
L Zhou, M Jiang, H Shen, T You, Z Ding, Q Cui, Z Ma, F Yang, Z Xie, H Shi, J Su, L Cao, J Lin, J Yin, L Dai, H Wang, Z Wang, Z Yu, C Ruan, L Xia
Glanzmann's thrombasthenia (GT) is a rare bleeding disorder characterized by spontaneous mucocutaneous bleeding. The disorder is caused by quantitative or qualitative defects in integrin αIIbβ3 (encoded by ITGA2B and ITGB3) on the platelet and is more common in consanguineous populations. However, the prevalence rate and clinical characteristics of GT in nonconsanguineous populations have been unclear. We analyzed 97 patients from 93 families with GT in the Han population in China. This analysis showed lower consanguinity (18...
April 19, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29672823/developmental-disorders-with-intellectual-disability-driven-by-chromatin-dysregulation-clinical-overlaps-and-molecular-mechanisms
#3
REVIEW
L Larizza, P Finelli
Advances in genomic analyses based on next generation sequencing and integrated omics approaches, have accelerated in an unprecedented way the discovery of causative genes of developmental delay (DD) and intellectual disability (ID) disorders. Chromatin dysregulation has been recognized as common pathomechanism of mendelian DD/ID syndromes due to mutation in genes encoding chromatin regulators referred as transcriptomopathies or epigenetic disorders. Common to these syndromes are the wide phenotypic breadth and the recognition of groups of distinct syndromes with shared signs besides cognitive impairment, likely mirroring common molecular mechanisms...
April 19, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29671881/a-known-pathogenic-variant-in-the-essential-mitochondrial-translation-gene-rmnd1-causes-a-perrault-like-syndrome-with-renal-defects
#4
LETTER
L A M Demain, D Antunes, J O'Sullivan, S S Bhaskhar, R T O'Keefe, W G Newman
No abstract text is available yet for this article.
April 19, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29667716/a-founder-mutation-mlc1-c-736dela-associated-with-megalencephalic-leukoencephalopathy-with-subcortical-cysts-1-in-north-indian-kindred
#5
LETTER
S K Vellarikkal, R Jayarajan, A Verma, R Ravi, V Senthilvel, A Kumar, L Saini, S Gulati, M Lal, A Mathur, M K Chhetri, M Faruq, V Scaria, S Sivasubbu
No abstract text is available yet for this article.
April 18, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29665027/genetic-variant-spectrum-in-265-chinese-patients-with-hemophagocytic-lymphohistiocytosis-molecular-analyses-of-prf1-unc13d-stx11-stxbp2-sh2d1a-and-xiap
#6
X Chen, F Wang, Y Zhang, W Teng, M Wang, D Nie, X Zhou, D Wang, H Zhao, P Zhu, H Liu
Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening hyperinflammatory disease. This study aimed to investigate the frequencies and distributions of inherited variants in PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP genes in Chinese patients with HLH. A total of 265 patients diagnosed with HLH from January 2010 to December 2016 were recruited and analyzed for the six genes. Genetic variants were observed in 87 (32.83%) patients. 36 (13.58%) exhibited variants in UNC13D, 18 (6.79%) exhibited PRF1 variants, 10 (3...
April 17, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29660117/polymorphisms-of-genes-involved-in-inflammation-and-blood-vessel-development-influence-the-risk-of-varicose-veins
#7
A Shadrina, Y Tsepilov, M Smetanina, E Voronina, E Seliverstov, E Ilyukhin, A Kirienko, I Zolotukhin, M Filipenko
Heredity plays an important role in the etiology of varicose veins (VVs). However, the genetic basis underlying this condition remains poorly understood. Our aim was to replicate top association signals from genome-wide association studies (GWAS) for VVs of lower extremities using two independent datasets - our sample of ethnic Russian individuals (709 cases and 278 controls) and a large cohort of British residents from UK Biobank (10,861 cases and 397,594 controls). Associations of polymorphisms rs11121615, rs6712038, rs507666, rs966562, rs7111987, rs6062618, and rs6905288 were validated in the UK Biobank individuals at a Bonferroni-corrected significance level...
April 16, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29655252/genetic-variant-spectrum-in-265-chinese-patients-with-hemophagocytic-lymphohistiocytosis-molecular-analyses-of-prf1-unc13d-stx11-stxbp2-sh2d1a-and-xiap
#8
X Chen, F Wang, Y Zhang, W Teng, M Wang, D Nie, X Zhou, D Wang, H Zhao, P Zhu, H Liu
Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening hyperinflammatory disease. This study aimed to investigate the frequencies and distributions of inherited variants in PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP genes in Chinese patients with HLH. A total of 265 patients diagnosed with HLH from January 2010 to December 2016 were recruited and analyzed for the six genes. Genetic variants were observed in 87 (32.83%) patients. 36 (13.58%) exhibited variants in UNC13D, 18 (6.79%) exhibited PRF1 variants, 10 (3...
April 14, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29652087/expanding-the-clinical-spectrum-of-biallelic-znf335-variants
#9
K Stouffs, A B Stergachis, T Vanderhasselt, A Dica, S Janssens, L Vandervore, A Gheldof, O Bodamer, K Keymolen, S Seneca, I Liebaers, D Jayaraman, H E Hill, J N Partlow, C A Walsh, A C Jansen
ZNF335 plays an essential role in neurogenesis and biallelic variants in ZNF335 have been identified as the cause of severe primary autosomal recessive microcephaly in two unrelated families. We describe herein two additional affected individuals with biallelic ZNF335 variants, one individual with a homozygous c.1399T>C, p.(Cys467Arg) variant, and a second individual with compound heterozygous c.2171_2173delTCT, p.(Phe724del) and c.3998A>G, p.(Glu1333Gly) variants in ZNF335; with the latter variant predicted to affect splicing...
April 13, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29652076/systematic-reanalysis-of-genomic-data-improves-quality-of-variant-interpretation
#10
S M Hiatt, M D Amaral, K M Bowling, C R Finnila, M L Thompson, D E Gray, J M J Lawlor, J Nicholas Cochran, E Martina Bebin, K B Brothers, K M East, W V Kelley, N E Lamb, S E Levy, E J Lose, M B Neu, C A Rich, S Simmons, R M Myers, G S Barsh, G M Cooper
As genomic sequencing expands, so does our knowledge of the link between genetic variation and disease. Deeper catalogs of variant frequencies improve identification of benign variants, while sequencing affected individuals reveals disease-associated variation. Accumulation of human genetic data thus makes reanalysis a means to maximize benefits of clinical sequencing. We implemented pipelines to systematically reassess sequencing data from 494 individuals with developmental disability. Reanalysis yielded pathogenic or likely pathogenic (P/LP) variants in six individuals who initially had no P/LP variants, a 16% increase to P/LP yield...
April 13, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29633245/tasp1-is-deleted-in-an-infant-with-developmental-delay-microcephaly-distinctive-facial-features-and-multiple-congenital-anomalies
#11
J Suleiman, M Mundt, S Sampath, A W El-Hattab
We report a 20p12.1 homozygous deletion including exons 5-10 of the TASP1 gene in an infant with developmental delay, acquired microcephaly, distinctive facial features, and multiple congenital anomalies involving skeletal, cardiac, and renal systems. TASP1 encodes taspase 1 which is responsible for cleaving, thus activating, a number of transcription factors including the mixed lineage leukemia 1 (MLL1). Taspase 1-deficient mice demonstrated early lethality, skeletal abnormalities, and growth failure, which supports a potentially causal role of TASP1 deletion in this infant...
April 6, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29604051/clinical-implication-of-fmr1-intermediate-alleles-in-a-spanish-population
#12
M I Alvarez-Mora, I Madrigal, F Martinez, M I Tejada, S Izquierdo-Alvarez, P S-V de Saz, A Caro-Llopis, O Villate, B Rodríguez-Santiago, L A Pérez-Jurado, L Rodriguez-Revenga, M Milà
FMR1 premutation carriers (55-200 CGGs) are at risk of developing Fragile X-associated primary ovarian insufficiency as well as Fragile X-associated tremor/ataxia syndrome. FMR1 premutation alleles are also associated with a variety of disorders, including psychiatric, developmental, and neurological problems. However, there is major concern regarding clinical implications of smaller CGG expansions known as intermediate alleles (IA) or gray zone alleles (45-54 CGG). Although several studies have hypothesized that IA may be involved in the etiology of FMR1 premutation associated phenotypes, this association still remains unclear...
March 31, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29582426/prevalence-of-brca1-2-large-genomic-rearrangements-in-chinese-women-with-sporadic-triple-negative-or-familial-breast-cancer
#13
L Su, J Zhang, H Meng, T Ouyang, J Li, T Wang, Z Fan, T Fan, B Lin, Y Xie
The prevalence of BRCA1/2 large genomic rearrangements (LGRs) and their underlying mechanisms have not been fully evaluated in Chinese women with breast cancer. In this study, we determined the prevalence of BRCA1/2 LGRs in 834 patients with familial breast cancer and 660 patients with sporadic triple-negative breast cancer who were negative for BRCA1/2 small-range mutations using the multiplex ligation-dependent probe amplification method. We found that twenty index patients (2.4%) in the familial breast cancer group carried a BRCA1 or BRCA2 LGR, and the frequencies of BRCA1 and BRCA2 LGRs were 1...
March 27, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29574747/wiedemann-steiner-syndrome-as-a-major-cause-of-syndromic-intellectual-disability-a-study-of-33-french-cases
#14
S Baer, A Afenjar, T Smol, A Piton, B Gérard, Y Alembik, T Bienvenu, G Boursier, O Boute, C Colson, M-P Cordier, V Cormier-Daire, B Delobel, M Doco-Fenzy, B Duban-Bedu, M Fradin, D Geneviève, A Goldenberg, M Grelet, D Haye, D Heron, B Isidor, B Keren, D Lacombe, A-S Lèbre, G Lesca, A Masurel, M Mathieu-Dramard, C Nava, L Pasquier, A Petit, N Philip, J Piard, S Rondeau, P Saugier-Veber, S Sukno, J Thevenon, J Van-Gils, C Vincent-Delorme, M Willems, E Schaefer, G Morin
Wiedemann-Steiner syndrome (WSS) is a rare syndromic condition in which ID is associated with hypertrichosis cubiti, short stature, and characteristic facies. Following the identification of the causative gene (KMT2A) in 2012, only 31 cases of WSS have been described precisely in the literature. We report on 33 French individuals with a KMT2A mutation confirmed by targeted gene sequencing, high-throughput sequencing or exome sequencing. Patients' molecular and clinical features were recorded and compared with the literature data...
March 25, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29574695/children-and-young-people-s-understanding-of-inherited-conditions-and-their-attitudes-towards-genetic-testing-a-systematic-review
#15
REVIEW
B C McGill, C E Wakefield, J Vetsch, K Barlow-Stewart, N A Kasparian, A F Patenaude, M-A Young, R J Cohn, K M Tucker
Children and young people are increasingly likely to receive information regarding inherited health risks relevant to their genetic relatives and themselves. We reviewed the literature to determine what children and young people (21 years and younger) understand about inherited conditions and their attitudes towards genetic testing. We screened 1815 abstracts to identify 20 studies representing the perspectives of 1811 children and young people between the ages of 6 and 21 years (1498 children or young people at general population-level risk from 9 studies, 313 affected/at-risk from 15 studies)...
March 25, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29572815/single-short-in-del-and-copy-number-variations-detection-in-monogenic-dyslipidemia-using-an-ngs-strategy
#16
O Marmontel, S Charrière, T Simonet, V Bonnet, S Dumont, M Mahl, C Jacobs, S Nony, K Chabane, D Bozon, A Janin, N Peretti, A Lachaux, C Bardel, G Millat, P Moulin, C Marçais, M Di Filippo
Optimal molecular diagnosis of primary dyslipidemia is challenging to confirm the diagnosis, test and identify at risk relatives. The aim of this study was to test the application of a single targeted next-generation sequencing (NGS) panel for hypercholesterolemia, hypocholesterolemia, and hypertriglyceridemia molecular diagnosis. NGS workflow based on a custom AmpliSeq panel was designed for sequencing the most prevalent dyslipidemia causing genes (ANGPTL3, APOA5, APOC2, APOB, GPIHBP1, LDLR, LMF1, LPL, PCSK9) on the Ion PGM™ Sequencer...
March 23, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29566257/seven-additional-families-with-spondylocarpotarsal-synostosis-syndrome-with-novel-biallelic-deleterious-variants-in-flnb
#17
S Salian, A Shukla, H Shah, S N Bhat, V R Bhat, S Nampoothiri, R Shenoy, S R Phadke, S V Hariharan, K M Girisha
The location and/or type of variants in FLNB result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe perinatal lethal forms, such as atelosteogenesis I and III and Boomerang dysplasia. Spondylocarpotarsal synostosis syndrome is characterized by disproportionate short stature, vertebral anomalies and fusion of carpal and tarsal bones. Biallelic loss-of-function variants in FLNB are known to cause spondylocarpotarsal synostosis syndrome and nine families and nine pathogenic variants have been reported so far...
March 22, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29542815/splice-site-mutations-in-vegfc-cause-loss-of-function-and-nonne-milroy-like-primary-lymphedema
#18
LETTER
E Fastré, L-E Lanteigne, R Helaers, G Giacalone, N Revencu, D Dionyssiou, E Demiri, P Brouillard, M Vikkula
No abstract text is available yet for this article.
March 15, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29532936/hypercalciuria-and-nephrolithiasis-expanding-the-renal-phenotype-of-donnai-barrow-syndrome
#19
LETTER
F Anglani, L Terrin, M Brugnara, M Battista, V Cantaluppi, M Ceol, L Bertoldi, G Valle, M P Joy, B R Pober, M Longoni
Whole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai-Barrow/facio-oculo-acustico-renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions.
March 13, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29521444/the-d313y-genotype-pathogenic-mutation-or-polymorphism
#20
LETTER
D Oder, C Wanner, P Nordbeck
No abstract text is available yet for this article.
March 9, 2018: Clinical Genetics
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