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https://www.readbyqxmd.com/read/28544239/a-novel-variant-in-med12-gene-further-delineation-of-phenotype
#1
Dhanya L Narayanan, Shubha R Phadke
MED12 is a multiprotein mediator complex, which has a role in cell growth and differentiation and has been implicated in three distinct X-linked intellectual disability syndromes with distinctive clinical features. These include Opitz-Kaveggia syndrome (FG syndrome), Lujan syndrome, and X-linked Ohdo syndrome. Recently MED12 variants have been implicated in isolated X-linked intellectual disability. We describe a 5-year-old male patient with intellectual disability and facial dysmorphism and a novel variant in MED12 gene identified by Whole Exome Sequencing...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544139/rettbase-rett-syndrome-database-update
#2
Rahul Krishnaraj, Gladys Ho, John Christodoulou
Rett syndrome (RTT) is an X-linked progressive neurodevelopmental disorder that primarily affects females. Mutations in the MECP2 gene have been attributed as the major genetic cause of Rett syndrome. Recently, mutations in CDKL5 and FOXG1 genes have also been suggested to give rise to Rett syndrome, although subsequent more extensive studies suggest that diseases resulting from mutations in these two genes should be considered as distinct clinical entities. While the genetic basis for the Rett syndrome has been recognized, so far there is no effective cure for the disease and the treatments available are mainly aimed at ameliorating clinical problems associated with the disorder...
May 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/28543733/development-of-real-time-rt-pcr-assays-for-detection-of-three-classes-of-hhv-6a-gene-transcripts
#3
Masaru Ihira, Akiko Urashima, Hiroki Miura, Fumihiko Hattori, Yoshiki Kawamura, Ken Sugata, Tetsushi Yoshikawa
Human herpesvirus 6 (HHV-6), a member of the betaherpesvirus family, has two distinct species: HHV-6A and HHV-6B. HHV-6B real-time reverse transcription polymerase chain reaction (RT-PCR) has been used to distinguish between active and latent viral infection. In this study, we developed a real-time RT-PCR assay to detect HHV-6A-specific transcripts and evaluated its reliability for analysis of clinical samples. To develop HHV-6A-specific real-time RT-PCR assays, three different classes of gene transcripts (immediate early: U90; early: U12; and late: U100) were selected as targets...
May 23, 2017: Journal of Medical Virology
https://www.readbyqxmd.com/read/28542515/a-novel-frameshift-mutation-of-smpx-causes-a-rare-form-of-x-linked-nonsyndromic-hearing-loss-in-a-chinese-family
#4
Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang
X-linked hearing impairment is the rarest form of genetic hearing loss (HL) and represents only a minor fraction of all cases. The aim of this study was to investigate the cause of X-linked inherited sensorineural HL in a four-generation Chinese family. A novel duplication variant (c.217dupA, p.Ile73Asnfs*5) in SMPX was identified by whole-exome sequencing. The frameshift mutation predicted to result in the premature truncation of the SMPX protein was co-segregated with the HL phenotype and was absent in 295 normal controls...
2017: PloS One
https://www.readbyqxmd.com/read/28542346/novel-mutations-in-col4a3-col4a4-and-col4a5-in-chinese-patients-with-alport-syndrome
#5
Jian-Hong Liu, Xiu-Xiu Wei, Ang Li, Ying-Xia Cui, Xin-Yi Xia, Wei-Song Qin, Ming-Chao Zhang, Er-Zhi Gao, Jun Sun, Chun-Lin Gao, Feng-Xia Liu, Qiu-Yue Wu, Wei-Wei Li, Asan, Zhi-Hong Liu, Xiao-Jun Li
Alport syndrome (AS) is a clinically and genetically heterogeneous, progressive nephropathy caused by mutations in COL4A3, COL4A4, and COL4A5, which encode type IV collagen. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine polymerase chain reaction (PCR)-based approaches. Here, in order to design a rapid and effective method for the genetic diagnosis of AS, we developed a strategy by utilizing targeted capture associated with next-generation sequencing (NGS) to analyze COL4A3, COL4A4, and COL4A5 simultaneously in 20 AS patients...
2017: PloS One
https://www.readbyqxmd.com/read/28538502/successful-reduced-intensity-allogeneic-transplant-with-full-donor-chimerism-and-good-quality-of-life-in-adolescent-patient-with-wiskott-aldrich-syndrome
#6
Salah Ali, Anna Gacsadi, Elizabeth McDougall, Christine Armstrong, Joerg Krueger, Tal Schechter, Muhammad Ali
Wiskott-Aldrich syndrome (WAS) is an X-linked disease characterized by microthrombocytopenia, eczema, immune deficiency, and autoimmune phenomena. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment. Myeloablative conditioning is the most common regimen used for HSCT in patients with WAS to avoid the risk of mixed donor chimerism and autoimmunity post-HSCT. There is limited data on the use of reduced intensity conditioning for HSCT in patients with WAS. Here, we report a case with severe phenotype of WAS transplanted successfully with reduced intensity conditioning, which is an acceptable conditioning regimen and can be considered in patients with WAS with significantly impaired organ functions...
May 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28538061/clinical-experience-of-treatment-of-facial-malformations-in-oto-palato-digital-syndrome-a-familial-patient
#7
Tomoe Kira-Koizumi, Nobuyuki Mitsukawa, Tadashi Morishita, Shinsuke Akita, Yoshitaka Kubota, Kaneshige Satoh
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. The authors report OPD1 in a mother and her 2 sons who had multiple common congenital anomalies. Both of the brothers were born with mild hearing impairment, frontal bossing with prominent supraorbital ridges, downslanting palpebral fissures, dental malocclusion, and palatal clefts. They underwent a series of aesthetic surgeries for their facial malformations with good cosmetic results...
May 19, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28534973/role-of-x%C3%A2-linked-inhibitor-of-apoptosis%C3%A2-associated-factor%C3%A2-1-in-vasculogenic-mimicry-in-ovarian-cancer
#8
Yunxia Wang, Peishu Liu, Xietong Wang, Hongluan Mao
X-linked inhibitor of apoptosis‑associated factor 1 (XAF1) was identified as a novel X-linked inhibitor of apoptosis (XIAP) binding partner that may reverse the anti‑apoptotic effect of XIAP. Previous studies have revealed that XAF1 serves an important role in cancer angiogenesis. Vasculogenic mimicry (VM) describes the formation of fluid‑conducting channels by highly invasive and genetically dysregulated tumor cells. VM is critical for tumor blood supply and is associated with aggressive actions and metastasis...
May 17, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28534508/utx-promotes-hormonally-responsive-breast-carcinogenesis-through-feed-forward-transcription-regulation-with-estrogen-receptor
#9
G Xie, X Liu, Y Zhang, W Li, S Liu, Z Chen, B Xu, J Yang, L He, Z Zhang, T Jin, X Yi, L Sun, Y Shang, J Liang
UTX is implicated in embryonic development and lineage specification. However, how this X-linked histone demethylase contributes to the occurrence and progression of breast cancer remains to be clarified. Here we report that UTX is physically associated with estrogen receptor (ER) and functions in ER-regulated transcription. We showed that UTX coordinates with JHDM1D and CBP to direct H3K27 methylation-acetylation transition and to create a permissive chromatin state on ER targets. Genome-wide analysis of the transcriptional targets of UTX by ChIP-seq identified a set of genes such as chemokine receptor CXCR4 that are intimately involved in breast cancer tumorigenesis and metastasis...
May 22, 2017: Oncogene
https://www.readbyqxmd.com/read/28534457/activation-of-cerebral-x-linked-adrenoleukodystrophy-after-head-trauma
#10
Adrian Budhram, Sachin K Pandey
No abstract text is available yet for this article.
May 23, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28533687/pulmonary-hypertension-and-vasculopathy-in-incontinentia-pigmenti-a-case-report
#11
Abduljabbar Alshenqiti, Marwan Nashabat, Hissah AlGhoraibi, Omar Tamimi, Majid Alfadhel
Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is a rare, genetic syndrome inherited as an X-linked dominant trait. It primarily affects female infants and is lethal in the majority of males during fetal life. The clinical findings include skin lesions, developmental defects, and defects of the eyes, teeth, skeletal system, and central nervous system. Cardiovascular complications of this disease in general, and pulmonary hypertension in particular, are extremely rare. This report describes the case of a 3-year-old girl with IP complicated by pulmonary arterial hypertension...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28533404/repression-of-phosphatidylinositol-transfer-protein-%C3%AE-ameliorates-the-pathology-of-duchenne-muscular-dystrophy
#12
Natassia M Vieira, Janelle M Spinazzola, Matthew S Alexander, Yuri B Moreira, Genri Kawahara, Devin E Gibbs, Lillian C Mead, Sergio Verjovski-Almeida, Mayana Zatz, Louis M Kunkel
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disease caused by X-linked inherited mutations in the DYSTROPHIN (DMD) gene. Absence of dystrophin protein from the sarcolemma causes severe muscle degeneration, fibrosis, and inflammation, ultimately leading to cardiorespiratory failure and premature death. Although there are several promising strategies under investigation to restore dystrophin protein expression, there is currently no cure for DMD, and identification of genetic modifiers as potential targets represents an alternative therapeutic strategy...
May 22, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28532160/primer-in-genetics-and-genomics-article-4-inheritance-patterns
#13
Lisa B Aiello, Beth Desaretz Chiatti
Since the completion of the Human Genome Project, much has been uncovered about inheritance of various illnesses and disorders. There are two main types of inheritance: Mendelian and non-Mendelian. Mendelian inheritance includes autosomal dominant, autosomal recessive, X-linked, and Y-linked inheritance. Non-Mendelian inheritance includes mitochondrial and multifactorial inheritance. Nurses must understand the types of inheritance in order to identify red flags that may indicate the possibility of a hereditary disorder in a patient or family...
January 1, 2017: Biological Research for Nursing
https://www.readbyqxmd.com/read/28529566/tgf-%C3%AE-1-signaling-pathway-serves-a-role-in-hepg2-cell-regulation-by-affecting-the-protein-expression-of-pcna-gankyrin-p115-xiap-and-survivin
#14
Xin-Hong Wang, Zhi-Guo Chen, Rui-Ling Xu, Cheng-Qian Lv, Jing Liu, Bing Du
The transforming growth factor-β (TGF-β) signaling pathway serves a key role in the pathogenesis of liver cancer. To investigate the association between TGF-β1 and the following proteins: Proliferating cell nuclear antigen (PCNA), gankyrin, general vesicular transport factor p115 (p115), X-linked inhibitor of apoptosis protein (XIAP) and survivin, HepG2 liver cancer cells were transfected with small interfering RNA (siRNA) directed against TGF-β1, or were treated with exogenous TGF-β1. TGF-β1 protein expression levels were assessed at 72 and 96 h using western blotting, cell growth was evaluated using a Cell Counting kit-8 assay, and flow cytometry was used to examine cell cycle distribution and apoptosis...
May 2017: Oncology Letters
https://www.readbyqxmd.com/read/28528977/imatinib-induces-autophagy-via-upregulating-xiap-in-gist882%C3%A2-cells
#15
Qingqing Xie, Qi Lin, Dezhi Li, Jianming Chen
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms originating from the gastrointestinal tract with gain of function mutations in receptor tyrosine kinases KIT or platelet-derived growth factor receptor A (PDGFRA). The main effective treatment for GISTs is tyrosine kinase inhibitors, such as imatinib mesylate. However, GISTs respond to imatinib treatment eventually develop acquired resistance, which is a main obstacle for GISTs therapy. Therefore, it's urgent to have a better understanding of the mechanisms underlying the imatinib resistance in GISTs to develop novel therapeutic strategies...
May 18, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28528201/x-linked-carriers-of-chronic-granulomatous-disease-illness-lyonization-and-stability
#16
Beatriz E Marciano, Christa S Zerbe, E Liana Falcone, Li Ding, Suk See DeRavin, Janine Daub, Samantha Kreuzburg, Lynne Yockey, Sally Hunsberger, Ladan Foruraghi, Lisa A Barnhart, Kabir Matharu, Victoria Anderson, Dirk N Darnell, Cathleen Frein, Danielle L Fink, Karen P Lau, Debra A Long Priel, John I Gallin, Harry L Malech, Gulbu Uzel, Alexandra F Freeman, Douglas B Kuhns, Sergio D Rosenzweig, Steven M Holland
BACKGROUND: Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. OBJECTIVE: To understand the clinical manifestations associated with the X-linked CGD carrier state. METHODS: We undertook a comprehensive retrospective study of 162 affected females. We examined dihydrorhodamine oxidation (DHR) data for percent (%) X chromosome inactivation...
May 17, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28526246/impaired-mitophagy-facilitates-mitochondrial-damage-in-danon-disease
#17
Sherin I Hashem, Anne N Murphy, Ajit S Divakaruni, Matthew L Klos, Bradley C Nelson, Emily C Gault, Teisha J Rowland, Cynthia N Perry, Yusu Gu, Nancy D Dalton, William H Bradford, Eric J Devaney, Kirk L Peterson, Kenneth L Jones, Matthew R G Taylor, Ju Chen, Neil C Chi, Eric D Adler
RATIONALE: Lysosomal associated membrane protein type-2 (LAMP-2) is a highly conserved, ubiquitous protein that is critical for autophagic flux. Loss of function mutations in the LAMP-2 gene cause Danon disease, a rare X-linked disorder characterized by developmental delay, skeletal muscle weakness, and severe cardiomyopathy. We previously found that human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from Danon patients exhibited significant mitochondrial oxidative stress and apoptosis...
May 16, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28526070/the-golden-retriever-model-of-duchenne-muscular-dystrophy
#18
REVIEW
Joe N Kornegay
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene and loss of the protein dystrophin. The absence of dystrophin leads to myofiber membrane fragility and necrosis, with eventual muscle atrophy and contractures. Affected boys typically die in their second or third decade due to either respiratory failure or cardiomyopathy. Despite extensive attempts to develop definitive therapies for DMD, the standard of care remains prednisone, which has only palliative benefits. Animal models, mainly the mdx mouse and golden retriever muscular dystrophy (GRMD) dog, have played a key role in studies of DMD pathogenesis and treatment development...
May 19, 2017: Skeletal Muscle
https://www.readbyqxmd.com/read/28524722/lesch-nyhan-disease-in-two-families-from-chilo%C3%A3-island-with-mutations-in-the-hprt1-gene
#19
Khue Vu Nguyen, Sebastian Silva, Monica Troncoso, Robert K Naviaux, William L Nyhan
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent point mutations leading to splicing errors: IVS 2 +1G>A, c.134 +1G>A, and IVS 3 +1G>A, c.318 +1G>A in the hypoxanthine-phosphoribosyltransferase1 (HPRT1) gene which result in exclusion of exon 2 and exon 3 respectively, in the HGprt enzyme protein from different members of two Chiloé Island families...
May 19, 2017: Nucleosides, Nucleotides & Nucleic Acids
https://www.readbyqxmd.com/read/28524215/-novel-therapies-in-neurometabolic-diseases-the-importance-of-early-intervention
#20
L G Gutierrez-Solana
INTRODUCTION: Individually, neurometabolic diseases are ultra rare, but for some of them there is an effective treatment. DEVELOPMENT: Several recent therapeutic advances are reviewed. Today, the possibilities of treatment for lysosomal diseases have improved. In recent years the use of enzyme replacement therapy has become more widely extended to treat mucopolysaccharidosis type IVA (Morquio A), mucopolysaccharidosis type VII (Sly syndrome), lysosomal acid lipase deficiency and alpha-mannosidosis...
May 17, 2017: Revista de Neurologia
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