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Clinical Genetics

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https://www.readbyqxmd.com/read/27918067/systematic-approach-to-understanding-the-pathogenesis-of-systemic-sclerosis
#1
REVIEW
Xiao Xia Zuo, Li Hua Zhang, Hui Luo, Yisha Li, Honglin Zhu
Systemic sclerosis (SSc) is a complex heterogeneous autoimmune disease. Progressive organ fibrosis is a major contributor to SSc mortality. Despite extensive efforts, the underlying mechanism of SSc remains unclear. Efforts to understand the pathogenesis of SSc have included genomics, epigenetics, transcriptomic, proteomic and metabolomic studies in the last decade. This review focuses on recent studies in SSc research based on multi-omics. The combination of these technologies can help us understand the pathogenesis of SSc...
December 5, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27905099/a-new-mutation-in-tubb1-associated-with-thrombocytopenia-confirms-that-c-terminal-part-of-%C3%AE-1-tubulin-plays-a-role-in-microtubule-assembly
#2
LETTER
M Fiore, C Goulas, X Pillois
No abstract text is available yet for this article.
November 30, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27893151/anomalies-in-human-sex-determination-provide-unique-insights-into-the-complex-genetic-interactions-of-early-gonad-development
#3
REVIEW
Anu Bashamboo, Caroline Eozenou, Sandra Rojo, Ken McElreavey
Human sex-determination (SD) involves complex mutually antagonistic genetic interactions of testis- and ovary-determining pathways. For many years both male and female sex-determination was considered to be regulated by a linear cascade of pro-male and pro-female genes respectively, however it has become clear that male and female development is achieved through the repression of the alternative state. A gene determining the formation of a testis may function by repressing the female state and vice-versa. Uniquely in development, SD is achieved by suppression of the alternate fate and maintained in adulthood by a mutually antagonistic double-repressive pathway...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27891590/bi-allelic-iars-mutations-in-a-child-with-intra-uterine-growth-retardation-neonatal-cholestasis-and-mild-developmental-delay
#4
Naama Orenstein, Karin Weiss, Stephanie N Oprescu, Rivka Shapira, Dvora Kidron, Lina Vanagaite-Basel, Anthony Antonellis, Maximilian Muenke
Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology. Furthermore, we provide functional data on two novel missense substitutions and expand the phenotype to include mild developmental delay, skin hyper-elasticity, and hypervitaminosis D...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27891585/novel-mutations-in-kars-cause-hypertrophic-cardiomyopathy-and-combined-mitochondrial-respiratory-chain-defect
#5
Daniela Verrigni, Daria Diodato, Michela Di Nottia, Alessandra Torraco, Emanuele Bellacchio, Teresa Rizza, Giulia Tozzi, Margherita Verardo, Fiorella Piemonte, Giorgio Tasca, Adele D'Amico, Enrico Bertini, Rosalba Carrozzo
Mutations in KARS, which encodes for both mitochondrial and cytoplasmic lysyl-tRNA synthethase, have been so far associated with three different phenotypes: the recessive form of Charcot Mary-Tooth polyneuropathy, the autosomal recessive non-syndromic hearing loss and the last recently described condition related to congenital visual impairment and progressive microcephaly. Here we report the case of a 14-years-old-girl with severe cardiomyopathy associated to mild psychomotor delay and mild myopathy; moreover, a diffuse reduction of cytochrome C oxidase (COX, complex IV) and a combined enzymatic defect of complex I (CI) and IV (CIV) was evident in muscle biopsy...
November 28, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27888607/catastrophic-cellular-events-leading-to-complex-chromosomal-rearrangements-in-the-germline
#6
REVIEW
Maki Fukami, Hitohito Shima, Erina Suzuki, Tsutomu Ogata, Keiko Matsubara, Tsutomu Kamimaki
Although complex chromosomal rearrangements were thought to reflect the accumulation of DNA damage over time, recent studies have shown that such rearrangements frequently arise from "all-at-once" catastrophic cellular events. These events, designated chromothripsis, chromoanasynthesis, and chromoanagenesis, were first documented in the cancer genome and subsequently observed in the germline. These events likely result from micronucleus-mediated chromosomal shattering and subsequent random reassembly of DNA fragments, although several other mechanisms have also been proposed...
November 26, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27888505/geographical-and-ethnic-distribution-of-mthfr-gene-polymorphisms-and-their-associations-with-diseases-among-chinese-population
#7
REVIEW
Boyi Yang, Shujun Fan, Xueyuan Zhi, Ruilan Xia, Yanxun Wang, Quanmei Zheng, Guifan Sun
Numerous studies have investigated the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and their associations with diseases in China. In this study we conducted a systematic review and meta-analysis of these studies (715 eligible studies in total).Results revealed that the frequencies of the MTHFR C677T and A1298C polymorphisms varied markedly in different areas and ethnicities, and even showed geographical gradients. The MTHFR C677T polymorphism was significantly associated with 42 clinical disorders (P<0...
November 26, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27883178/genotype-phenotype-correlation-in-44-czech-slovak-croatian-and-serbian-patients-with-mucopolysaccharidosis-type-ii
#8
Lenka Dvorakova, Hana Vlaskova, Adrijan Sarajlija, Danijela Petkovic Ramadza, Helena Poupetova, Eva Hruba, Anna Hlavata, Vladimir Bzduch, Karolina Peskova, Gabriela Storkanova, Bozica Kecman, Maja Djordjevic, Ivo Baric, Ksenija Fumic, Ingeborg Barisic, Martin Reboun, Jan Kulhanek, Jiri Zeman, Martin Magner
Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analysed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian and 7 Serbian patients (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged from 1:69,223 (Serbia) to 1:192,626 (Czech Rep.). In the majority of patients (71%), the disease manifested in infancy...
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27883173/clinical-application-of-snp-array-analysis-in-first-trimester-pregnancy-loss-a-prospective-study
#9
Yan Wang, Qing Cheng, Lulu Meng, Chunyu Luo, Huanran Hu, Jingjing Zhang, Jian Cheng, Tianhui Xu, Tao Jiang, Dong Liang, Ping Hu, Zhengfeng Xu
Chromosomal microarray analysis (CMA) has been used routinely in pediatric and prenatal genetic diagnosis in clinical practice, but it has rarely been applied to miscarriage analysis. In this study, we conducted a prospective study to evaluate the feasibility of CMA for genetic diagnosis of first-trimester miscarriage specimens. We successfully analyzed 551 fresh miscarriage specimens using SNP array. Among the specimens, 2.9% (16/551) had significant maternal cell contamination and were excluded from the study...
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27882547/molecular-characterization-of-pi-q0la-palma-a-new-alpha-1-antitrypsin-null-allele-that-combines-two-defective-genetic-variants
#10
LETTER
J M Hernández-Pérez, R Ramos-Díaz, S Fumero-García, J A Pérez
No abstract text is available yet for this article.
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27882533/a-novel-rad21-variant-associated-with-intrafamilial-phenotypic-variation-in-cornelia-de-lange-syndrome-review-of-the-literature
#11
LETTER
M I Boyle, C Jespersgaard, L Nazaryan, A-M Bisgaard, Z Tümer
In a patient with CdLS (IV.16) we identifed a novel single basepair deletion (c.704delG) in RAD21, which encodes a cohesin pathway protein. The variant is predicted to result in a premature stop codon [p.(Ser235Ilefs*19)] and hereby would have a deleterious effect. RAD21 variants have previously been described only in five cases with cohesinopathies (b). Notably, the deletion was found in the mother and the two aunts of the index patient, and none of them had been suspected of having CdLS or a cohesinopathy prior to this study (a)...
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27874174/compound-heterozygous-mutations-in-the-ift140-gene-cause-opitz-trigonocephaly-c-syndrome-in-a-patient-with-typical-features-of-a-ciliopathy
#12
Christian Peña-Padilla, Christian R Marshall, Susan Walker, Stephen W Scherer, Gerónimo Tavares-Macías, Gladys Razo-Jiménez, Lucina Bobadilla-Morales, Elizabeth Acosta-Fernández, Alfredo Corona-Rivera, Roberto Mendoza-Londono, Jorge Román Corona-Rivera
We report on an infant with Opitz trigonocephaly C syndrome (OTCS), who also had manifestations of ciliopathy, including short ribs (non-asphyxiating), trident acetabular roofs, postaxial polydactyly cone-shaped epiphyses, and dysplasia of the renal, hepatic and pancreatic tissues. To investigate the molecular cause, we used an exome sequencing strategy followed by Sanger sequencing. Two rare variants, both predicted to result in loss of functional protein, were identified in the IFT140 gene; a substitution at the splice donor site of exon 24 (c...
November 22, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27861765/genetics-of-primary-ovarian-insufficiency
#13
REVIEW
R Rossetti, I Ferrari, M Bonomi, L Persani
Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the age of 40 and account for one major cause of female infertility. POI relevance is continuously growing because of the increasing number of women desiring conception beyond 30 years of age, when POI prevalence is >1%. POI is highly heterogeneous and can present with ovarian dysgenesis and primary amenorrhea, or with secondary amenorrhea, and it can be associated with other congenital or acquired abnormalities. In most cases POI remains classified as idiopathic...
November 16, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27861764/autosomal-recessive-variations-of-tbx6-from-congenital-scoliosis-to-spondylocostal-dysostosis
#14
M Lefebvre, Y Duffourd, T Jouan, C Poe, N Jean-Marçais, A Verloes, J St-Onge, J-B Riviere, F Petit, G Pierquin, B Demeer, P Callier, C Thauvin-Robinet, L Faivre, J Thevenon
Proximal 16p11.2 microdeletions are recurrent microdeletions with an overall prevalence of 0.03%. In patients with segmentation defects of the vertebra (SDV), a burden of this microdeletion was observed with TBX6 as a candidate gene for SDV. In a published cohort of patients with congenital scoliosis (CS), TBX6 haploinsufficiency was compound heterozygous with a common haplotype. Besides, a single three-generation family with spondylocostal dysostosis (SCD) was reported with a heterozygous stop-loss of TBX6...
November 8, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27859054/alport-syndrome-impact-of-digenic-inheritance-in-patients-management
#15
Chiara Fallerini, Margherita Baldassarri, Eva Trevisson, Valeria Morbidoni, Angela La Manna, Roberta Lazzarin, Andrea Pasini, Giancarlo Barbano, Angela Rosa Pinciaroli, Guido Garosi, Elisa Frullanti, Anna Maria Pinto, Maria Antonietta Mencarelli, Francesca Mari, Alessandra Renieri, Francesca Ariani
Alport syndrome (ATS) is a genetically heterogeneous nephropathy with considerable phenotypic variability and different transmission patterns, including monogenic (X-linked/autosomal) and digenic inheritance. Here we present a new series of families with digenic inheritance and we discuss consequences for genetic counseling and risk assessment. Out of 5 families harboring variants in more than one COL4 gene detected by Next Generation Sequencing (NGS), minigene splicing assay allowed us to identify four as true digenic...
November 8, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27859028/phenotypic-and-genotypic-characterization-of-chinese-children-diagnosed-withtuberous-sclerosis-complex
#16
Guang Yang, ZeNing Shi, Yan Meng, XiuYu Shi, LingYu Pang, ShuFang Ma, MengNa Zhang, YanYan Wang, LiPing Zou
We investigated the clinical phenotypes and genetic mutations in Chinese children diagnosed with tuberous sclerosis complex (TSC). Sequencing of TSC1 and TSC2 genes was performed in 117 children with TSC and their parents. Association of TSC gene mutations with clinical manifestations was investigated. All gene mutations were heterozygous including in 16 patients (13.7%) with mutations in TSC1 gene and 101 patients (86.3%) with mutations in TSC2 gene. Among the 16 patients with TSC1 gene mutations, 15 different types of mutations were found, which included five novel mutations; all patients had skin manifestations and epilepsy...
November 8, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27813081/genetics-and-genomics-of-ovarian-sex-cord-stromal-tumors
#17
REVIEW
Peter J Fuller, Dilys Leung, Simon Chu
Ovarian sex cord-stromal tumors represent ~8% of malignant ovarian tumors. The most common are granulosa cell tumors (GCT) which account for ~90% of malignant sex cord-stromal tumors. Recent studies have unravelled the key genomic and genetic events contributing to their pathogenesis. Sex cord-stromal tumors are found in the hereditary syndromes: Peutz-Jeghers Syndrome, Ollier disease and Maffucci syndrome, and DICER1 syndrome. Genomic studies have largely been limited to GCT where a number of recurring chromosomal abnormalities (monsomy and trisomy) have been identified although their contribution to pathogenesis remains unclear...
November 4, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27808407/extension-of-the-clinical-and-molecular-phenotype-of-diaph1-associated-autosomal-dominant-hearing-loss-dfna1
#18
Christine Neuhaus, Ruth Lang-Roth, Ulrike Zimmermann, Raoul Heller, Tobias Eisenberger, Matthias Weikert, Susanne Markus, Marlies Knipper, Hanno J Bolz
In about 20% of non-syndromic hearing loss (NSHL) cases, inheritance is autosomal dominant (ADNSHL). DIAPH1 mutations define the ADNSHL locus DFNA1. We identified two new families with heterozygous truncating DIAPH1 mutations (p.Ala1210Serfs*31 and p.Arg1213*). In contrast to the extensively studied original DFNA1 family, hearing loss was not confined to low frequencies, but congenital manifestation and rapid progression were confirmed. In line with a recent unrelated study, we identified an association with thrombocytopenia, reclassifying DFNA1 as a syndrome...
November 3, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27808398/homozygous-deletion-of-rag1-rag2-and-5-region-traf6-causes-severe-immune-suppression-and-atypical-osteopetrosis
#19
Monika Weisz Hubshman, Lina Basel-Vanagaite, Aviva Krauss, Osnat Konen, Yael Levy, Ben Zion Garty, Pola Smirin-Yosef, Idit Maya, Irina Lagovsky, Ellen Taub, Daphna Marom, Dafna Gaash, Keren Shichrur, Smadar Avigad, Lucille Hayman Manzur, Anna Villa, Cristina Sobacchi, Mordechai Shohat, Isaac Yaniv, Jerry Stein
Mutations of several genes have been implicated in autosomal recessive osteopetrosis (OP), a disease caused by impaired function and differentiation of osteoclasts. Severe combined immune deficiencies (SCID) can likewise result from different genetic mutations. We report two siblings with SCID and an atypical phenotype of OP. A biallelic microdeletion encompassing the 5' region of TRAF6, RAG1 and RAG2 genes was identified. TRAF6, a tumor necrosis factor receptor-associated family member, plays an important role in T-cell signaling and in RANKL-dependent osteoclast differentiation and activation but its role in human OP has not been previously reported...
November 3, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27807845/microcephaly-intractable-seizures-and-developmental-delay-caused-by-biallelic-variants-in-tbcd-further-delineation-of-a-new-chaperone-mediated-tubulinopathy
#20
Ben Pode-Shakked, Hila Barash, Limor Ziv, Karen W Gripp, Elisabetta Flex, Ortal Barel, Karen S Carvalho, Mena Scavina, Giovanni Chillemi, Marcello Niceta, Eran Eyal, Nitzan Kol, Bruria Ben-Zeev, Omer Bar-Yosef, Dina Marek-Yagel, Enrico Bertini, Angela L Duker, Yair Anikster, Marco Tartaglia, Annick Raas-Rothschild
Microtubule dynamics play a crucial role in neuronal development and function, and several neurodevelopmental disorders have been linked to mutations in genes encoding tubulins and functionally related proteins. Most recently, variants in the tubulin cofactor D (TBCD) gene, which encodes one of the five co-chaperones required for assembly and disassembly of α/β-tubulin heterodimer, were reported to underlie a recessive neurodevelopmental/neurodegenerative disorder. We report on five patients from three unrelated families, who presented with microcephaly, intellectual disability, intractable seizures, optic nerve pallor/atrophy, and cortical atrophy with delayed myelination and thinned corpus callosum on brain imaging...
November 2, 2016: Clinical Genetics
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