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https://www.readbyqxmd.com/read/28723896/maternal-h3k27me3-controls-dna-methylation-independent-imprinting
#1
Azusa Inoue, Lan Jiang, Falong Lu, Tsukasa Suzuki, Yi Zhang
Mammalian sperm and oocytes have different epigenetic landscapes and are organized in different fashions. After fertilization, the initially distinct parental epigenomes become largely equalized with the exception of certain loci, including imprinting control regions. How parental chromatin becomes equalized and how imprinting control regions escape from this reprogramming is largely unknown. Here we profile parental allele-specific DNase I hypersensitive sites in mouse zygotes and morula embryos, and investigate the epigenetic mechanisms underlying these allelic sites...
July 19, 2017: Nature
https://www.readbyqxmd.com/read/28723766/lady-with-wings-a-case-report-of-giant-neurofibromatosis-type-i
#2
Suraj Maharjan, Xiucun Li, Jianli Cui, Yang Liu, Laijin Lu
RATIONALE: Neurofibromatosis type I (NF-I) accounts for approximately 90% of neurofibromatosis. NF-I is an autosomal dominant genetic disease which results from the gene mutation of NF-I situated in chromosome 17q11.2. PATIENT CONCERNS: A 32-year-old lady presented with a giant wing like structure on her back which started growing from her childhood. DIAGNOSIS: A diagnosis of NF-I was confirmed as she presented with multiple cutaneous nodules, multiple café-au-lait macules of different sizes, scoliosis deformity, and positive family history of neurofibroma...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28723680/meiotic-recombination-in-the-giraffe-g-reticulata
#3
Miluse Vozdova, Jan Fröhlich, Svatava Kubickova, Hana Sebestova, Jiri Rubes
Recently, the reticulated giraffe (G. reticulata) was identified as a distinct species, which emphasized the need for intensive research in this interesting animal. To shed light on the meiotic process as a source of biodiversity, we analysed the frequency and distribution of meiotic recombination in 2 reticulated giraffe males. We used immunofluorescence detection of synaptonemal complex protein (SYCP3), meiotic double strand breaks (DSB, marked as RAD51 foci) in leptonema, and crossovers (COs, as MLH1 foci) in pachynema...
July 20, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28723471/urinary-tract-infections-in-immunocompromised-patients-with-diabetes-chronic-kidney-disease-and-kidney-transplant
#4
REVIEW
Zafer Tandogdu, Tommaso Cai, Bela Koves, Florian Wagenlehner, Truls Erik Bjerklund-Johansen
CONTEXT: This paper provides a brief overview of urinary tract infections (UTIs) in immunocompromised patients from the perspective of a practicing urologist. OBJECTIVE: The primary objective was to provide an update on UTIs in immunocompromised patients. Diabetes mellitus (DM), chronic kidney disease, and kidney transplant (KT) are the most common clinical cases encountered by urologists. Diagnosis, management, and future research needs are summarised. EVIDENCE ACQUISITION: We conducted a nonsystematic review of the literature...
October 2016: European Urology Focus
https://www.readbyqxmd.com/read/28722801/primary-familial-brain-calcification-with-a-novel-slc20a2-mutation-analysis-of-pit-2-expression-and-localization
#5
Ilaria Taglia, Patrizia Formichi, Carla Battisti, Giulia Peppoloni, Melissa Barghigiani, Alessandra Tessa, Antonio Federico
Primary Familial Brain Calcification (PFBC) is an autosomal dominant rare disorder characterized by bilateral and symmetric brain calcifications and neuropsychiatric manifestations. Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB and XPR1. In this study, we report molecular and clinical data of a PFBC patient carrying a novel SLC20A2 mutation and we investigate the impact of the mutation on PiT-2 expression and function. Sanger sequencing of SLC20A2, PDGFRB, PDGFB, XPR1 led to the identification of a novel duplication of twelve nucleotides (c...
July 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28721938/practical-clues-for-diagnosing-wwox-encephalopathy
#6
Oana Tarta-Arsene, Diana Barca, Dana Craiu, Catrinel Iliescu
The WW domain-containing oxidoreductase gene is implicated in autosomal recessive disorders of the central nervous system, expressed either as spinocerebellar ataxia or as a severe form with early-infantile epileptic encephalopathy. Here, we describe the electroclinical evolution of these disorders, adding new diagnostic clues based on a case study. The patient, a boy with early-onset epilepsy, presented with profound global developmental delay, persistent hypsarrhythmia, and epileptic spasms, associated with progressive cerebral atrophy without microcephaly...
July 19, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28721681/genetic-characterization-and-disease-mechanism-of-retinitis-pigmentosa-current-scenario
#7
REVIEW
Muhammad Umar Ali, Muhammad Saif Ur Rahman, Jiang Cao, Ping Xi Yuan
Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000-8000 individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is characterized as a heterogeneous genetic disorder which leads by progressive devolution of the retina leading to a progressive visual loss. It can occur in syndromic (with Usher syndrome and Bardet-Biedl syndrome) as well as non-syndromic nature. The mode of inheritance can be X-linked, autosomal dominant or autosomal recessive manner...
August 2017: 3 Biotech
https://www.readbyqxmd.com/read/28721660/clinicopathologic-and-molecular-characteristics-of-familial-cherubism-with-associated-odontogenic-tumorous-proliferations
#8
Prokopios P Argyris, Rajaram Gopalakrishnan, Ying Hu, Ernst J Reichenberger, Ioannis G Koutlas
Cherubism is a rare autosomal dominant condition affecting the jaws and caused by mutations in the gene encoding for the adapter protein SH3BP2 that maps to chromosome 4p16.3. Cherubism is characterized by symmetrically developing bone lesions in the maxilla and mandible. The lesions have been radiographically and histopathologically well-described. Here, we present a family with cherubism with two of its members featuring odontogenic tumorous proliferations in association with persistent central giant cell lesions (CGCL)...
July 18, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28721627/two-chinese-pedigrees-of-blau-syndrome-with-thirteen-affected-members
#9
REVIEW
Di Wu, Min Shen
Blau syndrome (BS) is a rare autosomal dominant autoinflammatory disease characterized by the clinical triad of dermatitis, arthritis, and uveitis. It is caused by mutations in nucleotide-binding oligomerization domain-containing protein-2 (NOD2) gene. BS has been widely reported in Caucasians but cases documented in China are scarce. We reported two Chinese families with BS, which were by far the two largest pedigrees in the Chinese population. We identified two unrelated families with BS. The phenotypes and genotypes of these patients were reviewed and compared with previous cohorts...
July 18, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28720891/whole-exome-sequencing-reveals-inherited-and-de-novo-variants-in-autism-spectrum-disorder-a-trio-study-from-saudi-families
#10
Bashayer Al-Mubarak, Mohamed Abouelhoda, Aisha Omar, Hesham AlDhalaan, Mohammed Aldosari, Michael Nester, Hussain A Alshamrani, Mohamed El-Kalioby, Ewa Goljan, Renad Albar, Shazia Subhani, Asma Tahir, Sultana Asfahani, Alaa Eskandrani, Ahmed Almusaiab, Amna Magrashi, Jameela Shinwari, Dorota Monies, Nada Al Tassan
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with genetic and clinical heterogeneity. The interplay of de novo and inherited rare variants has been suspected in the development of ASD. Here, we applied whole exome sequencing (WES) on 19 trios from singleton Saudi families with ASD. We developed an analysis pipeline that allows capturing both de novo and inherited rare variants predicted to be deleterious. A total of 47 unique rare variants were detected in 17 trios including 38 which are newly discovered...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28720880/pattern-of-retinal-morphological-and-functional-decay-in-a-light-inducible-rhodopsin-mutant-mouse
#11
Claudia Gargini, Elena Novelli, Ilaria Piano, Martina Biagioni, Enrica Strettoi
Hallmarks of Retinitis Pigmentosa (RP), a family of genetic diseases, are a typical rod-cone-degeneration with initial night blindness and loss of peripheral vision, followed by decreased daylight sight and progressive visual acuity loss up to legal blindness. Great heterogeneity in nature and function of mutated genes, variety of mutations for each of them, variability in phenotypic appearance and transmission modality contribute to make RP a still incurable disease. Translational research relies on appropriate animal models mimicking the genetic and phenotypic diversity of the human pathology...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28720802/a-novel-adoa-associated-opa1-mutation-alters-the-mitochondrial-function-membrane-potential-ros-production-and-apoptosis
#12
Juanjuan Zhang, Xiaoling Liu, Xiaoyang Liang, Yuanyuan Lu, Ling Zhu, Runing Fu, Yanchun Ji, Wenlu Fan, Jie Chen, Bing Lin, Yimin Yuan, Pingping Jiang, Xiangtian Zhou, Min-Xin Guan
Autosomal dominant optic atrophy (ADOA) is a dominantly inherited optic neuropathy, affecting the specific loss of retinal ganglion cells (RGCs). The majority of affected cases of ADOA are associated with mutations in OPA1 gene. Our previous investigation identified the c.1198C > G (p.P400A) mutation in the OPA1 in a large Han Chinese family with ADOA. In this report, we performed a functional characterization using lymphoblostoid cell lines derived from affected members of this family and control subjects...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28720532/lipoid-proteinosis-a-clinical-and-molecular-study-in-egyptian-patients
#13
Hanan H Afifi, Khalda S Amr, Angie M S Tosson, Tarak A Hassan, Mennat I Mehrez, Ghada Y El-Kamah
Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities. Twelve patients from ten unrelated families with a clinical diagnosis of lipoid proteinosis were enrolled in this study. Extraction of DNA samples of the 12 patients and their parents from peripheral blood by standard methods was performed. Polymerase chain reaction (PCR) amplification of the ECM1 gene was conducted using eight pairs of primers spanning over the 10 exons and splice junctions...
July 15, 2017: Gene
https://www.readbyqxmd.com/read/28718682/genetic-screening-of-scnn1b-and-scnn1g-genes-in-early-onset-hypertensive-patients-helps-to-identify-liddle-syndrome
#14
Kun-Qi Yang, Chao-Xia Lu, Peng Fan, Ying Zhang, Xu Meng, Xue-Qi Dong, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Hai-Ying Wu, Jun Cai, Xue Zhang, Xian-Liang Zhou
BACKGROUND: Liddle syndrome is an autosomal dominant form of monogenic hypertension. Phenotypic variability makes it difficult to identify patients with Liddle syndrome, resulting in misdiagnosis and severe complications at early age. OBJECTIVES: To identify mutation in SCNN1B and SCNN1G genes in an adolescent with suspicious Liddle syndrome and his family members and to explore the screening target subjects of Liddle syndrome. METHODS: Genetic analysis of the C-terminus of SCNN1B and SCNN1G genes was conducted in an adolescent, with treatment-resistant hypertension and hypokalemia, who was suspected of having Liddle syndrome, and his family members...
July 18, 2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28718531/next-generation-sequencing-for-patients-with-non-obstructive-azoospermia-implications-for-significant-roles-of-monogenic-oligogenic-mutations
#15
S Nakamura, M Miyado, K Saito, M Katsumi, A Nakamura, Y Kobori, Y Tanaka, H Ishikawa, A Yoshida, H Okada, K Hata, K Nakabayashi, K Okamura, H Ogata, Y Matsubara, T Ogata, H Nakai, M Fukami
Azoospermia affects up to 1% of adult men. Non-obstructive azoospermia is a multifactorial disorder whose molecular basis remains largely unknown. To date, mutations in several genes and multiple submicroscopic copy-number variations (CNVs) have been identified in patients with non-obstructive azoospermia. The aim of this study was to clarify the contribution of nucleotide substitutions in known causative genes and submicroscopic CNVs in the genome to the development of non-obstructive azoospermia. To this end, we conducted sequence analysis of 25 known disease-associated genes using next-generation sequencing and genome-wide copy-number analysis using array-based comparative genomic hybridization...
July 2017: Andrology
https://www.readbyqxmd.com/read/28718266/a-case-of-13-year-old-girl-with-prolidase-deficiency
#16
Arshad Khushdil, Fatima Murtaza
Prolidase deficiency is a rare autosomal recessive disorder characterized by recurrent and nonhealing skin ulcers along with facial dysmorphism and mental retardation. We report a 13-year-old girl who has clinical manifestation of Proliodase deficiency. It is a very rare disorder and no such case has been reported so far from Pakistan.
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28718264/malignant-infantile-osteopetrosis
#17
Saima Gillani, Zaheer Abbas
Two main forms of osteopetrosis are recognized, a severe autosomal recessive form (MIM 259700) with an incidence of approximately 1 in 250,000 births and a mild autosomal dominant form (MIM166600) with an incidence of 1 in 20,000 births. Intrinsic disturbances of osteoclastic function due to mutations in genes encoding osteoclast-specific subunits of the vacuolar proton pump (TCIRG1, CLCN7) are found in most patients with recessive form. Mutations of CLCN7 are observed in dominant form of osteopetrosis .The recessive form of ostreopetrosis, i...
April 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28717960/population-genetic-analysis-of-the-globalfiler-str-loci-in-3032-individuals-from-the-altay-han-population-of-xinjiang-in-northwest-china
#18
XueBo Li, Liangliang Li, Qingshan Wang, Jianzhong Zhang, Wendong Ge, Rufeng Bai, Xiaojun Yu, Meisen Shi
The genetic polymorphisms of 21 autosomal short tandem repeat (STR) loci included in the GlobalFiler™ PCR Amplification Kit were evaluated in 3032 unrelated individuals Altay Han of Xinjiang, northwest China. All of the loci reached the Hardy-Weinberg equilibrium. These loci were examined to determine allele frequencies and forensic statistical parameters. SE33 showed the greatest power of discrimination in Altay Han population, whereas TPOX showed the lowest. The combined discrimination power and probability of excluding paternity of the 21 autosomal STR loci were 0...
July 17, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28717674/exactly-zero-or-once-a-clinically-helpful-guide-to-assessing-genetic-variants-in-mild-epilepsies
#19
Caitlin A Bennett, Slavé Petrovski, Karen L Oliver, Samuel F Berkovic
OBJECTIVE: To assist the interpretation of genomic data for common epilepsies, we asked whether variants implicated in mild epilepsies in autosomal dominant families are present in the general population. METHODS: We studied 12 genes for the milder epilepsies and identified published variants with strong segregation support (de novo germline mutation or ≥4 affected family members). These variants were checked in the Exome Aggregation Consortium (ExAC), a database of genetic variation in over 60,000 individuals...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28717664/genetic-variation-spectrum-in-atp7b-gene-identified-in-latvian-patients-with-wilson-disease
#20
Agnese Zarina, Ieva Tolmane, Madara Kreile, Aleksandrs Chernushenko, Gunta Cernevska, Ieva Pukite, Ieva Micule, Zita Krumina, Astrida Krumina, Baiba Rozentale, Linda Piekuse
BACKGROUND: Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by allelic variants in ATP7B gene. More than 500 distinct variants have been reported, the most common WD causing allelic variant in the patients from Central, Eastern, and Northern Europe is H1069Q. METHODS: All Latvian patients with clinically confirmed WD were screened for the most common mutation p.H1069Q by PCR Bi-PASA method. Direct DNA sequencing of gene ATP7B (all 21 exons) was performed for the patients with WD symptoms, being either heterozygous for H1069Q or without it on any allele...
July 2017: Molecular Genetics & Genomic Medicine
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