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BMC Medical Genetics

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https://www.readbyqxmd.com/read/28212612/african-ancestry-is-associated-with-facial-melasma-in-women-a-cross-sectional-study
#1
Maria Paula Barbieri D'Elia, Marcela Calixto Brandão, Bruna Ribeiro de Andrade Ramos, Márcia Guimarães da Silva, Luciane Donida Bartoli Miot, Sidney Emanuel Batista Dos Santos, Hélio Amante Miot
BACKGROUND: Melasma is a chronic acquired focal hypermelanosis affecting photoexposed areas, especially for women during fertile age. Several factors contribute to its development: sun exposure, sex steroids, medicines, and family history. Melanic pigmentation pathway discloses several SNPs in different populations. Here, we evaluated the association between genetic ancestry and facial melasma. METHODS: A cross-sectional study involving women with melasma and an age-matched control group from outpatients at FMB-Unesp, Botucatu-SP, Brazil was performed...
February 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28209136/bcl-2-and-myc-gain-amplification-is-correlated-with-central-nervous-system-involvement-in-diffuse-large-b-cell-lymphoma-at-leukemic-phase
#2
Dehui Zou, Shuhua Yi, Rui Cui, Wei Liu, Chengwen Li, Shizhen Zhong, Zhen Yu, Zengjun Li, Rui Lv, Kun Ru, Huijun Wang, Gang An, Yan Xu, Lugui Qiu
BACKGROUND: Diffuse large B-cell lymphoma (DLBCL) of leukemic phase is a rare clinical manifestation, but is highly prevalent with central nervous system involvement (CNSI). Little is known about this rare clinical observation. METHODS: We reviewed the clinical characteristics of 40 DLBCL patients with leukemic phase identified by flow cytometry and analyzed BCL2 and MYC aberrations by fluorescence in situ hybridization. RESULTS: The median age of these 40 patients was 46 years (range, 15-75) with 19 men patients...
February 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28196478/genetic-analysis-of-impaired-trimethylamine-metabolism-using-whole-exome-sequencing
#3
Yiran Guo, Liang-Dar Hwang, Jiankang Li, Jason Eades, Chung Wen Yu, Corrine Mansfield, Alexis Burdick-Will, Xiao Chang, Yulan Chen, Fujiko F Duke, Jianguo Zhang, Steven Fakharzadeh, Paul Fennessey, Brendan J Keating, Hui Jiang, Hakon Hakonarson, Danielle R Reed, George Preti
BACKGROUND: Trimethylaminuria (TMAU) is a genetic disorder whereby people cannot convert trimethylamine (TMA) to its oxidized form (TMAO), a process that requires the liver enzyme FMO3. Loss-of-function variants in the FMO3 gene are a known cause of TMAU. In addition to the inability to metabolize TMA precursors like choline, patients often emit a characteristic odor because while TMAO is odorless, TMA has a fishy smell. The Monell Chemical Senses Center is a research institute with a program to evaluate people with odor complaints for TMAU...
February 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28196537/characterization-of-a-novel-disease-causing-mutation-in-exon-1-of-sh2d1a-gene-through-amplicon-sequencing-a-case-report-on-hlh
#4
Shiyuan Zhou, Hongyu Ma, Bo Gao, Guangming Fang, Yi Zeng, Qing Zhang, GaoFu Qi
BACKGROUND: Hemophagocytic lymphohistocytosis (HLH) is a rare but fatal hyperinflammatory syndrome caused by uncontrolled proliferation of activated macrophages and T lymphocytes secreting high amounts of inflammatory cytokines. Genetic defect is a common cause of HLH. HLH is complicated to be diagnosed as there are many common symptoms with other disorders. CASE PRESENTATION: Here we report on an HLH case caused by 1 bp deletion in gene SH2D1A. Patient was a 3-years-old boy and had fever for more than 8 days...
February 14, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28187756/a-novel-mttt-mutation-m-15933g%C3%A2-%C3%A2-a-revealed-in-analysis-of-mitochondrial-dna-in-patients-with-suspected-mitochondrial-disease
#5
Heidi K Soini, Antti Väisänen, Mikko Kärppä, Reetta Hinttala, Laura Kytövuori, Jukka S Moilanen, Johanna Uusimaa, Kari Majamaa
BACKGROUND: Mitochondrial diseases present with variable multi-organ symptoms. Common disease-causing mutations in mitochondrial DNA (mtDNA) are regularly screened in diagnostic work-up, but novel mutations may remain unnoticed. METHODS: Patients (N = 66) with a clinical suspicion of mitochondrial disease were screened for their mtDNA coding region using conformation sensitive gel electrophoresis and sequencing. Long-PCR was used to detect deletions followed by POLG1 sequencing in patients with multiple deletions...
February 10, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28173761/a-novel-complex-runx2-gene-mutation-causes-cleidocranial-dysplasia
#6
Wen'an Xu, Qiuyue Chen, Cuixian Liu, Jiajing Chen, Fu Xiong, Buling Wu
BACKGROUND: Haploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations. METHODS: Genomic DNA extracted from peripheral venous blood was taken from the proband, her parents and 3 siblings, and 150 normal controls. Analysis of their respective RUNX2 gene sequences was performed by PCR amplification and Sanger sequencing...
February 7, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28158988/microsatellite-polymorphisms-associated-with-human-behavioural-and-psychological-phenotypes-including-a-gene-environment-interaction
#7
Andrew T M Bagshaw, L John Horwood, David M Fergusson, Neil J Gemmell, Martin A Kennedy
BACKGROUND: The genetic and environmental influences on human personality and behaviour are a complex matter of ongoing debate. Accumulating evidence indicates that short tandem repeats (STRs) in regulatory regions are good candidates to explain heritability not accessed by genome-wide association studies. METHODS: We tested for associations between the genotypes of four selected repeats and 18 traits relating to personality, behaviour, cognitive ability and mental health in a well-studied longitudinal birth cohort (n = 458-589) using one way analysis of variance...
February 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28143435/genetic-characterization-of-italian-patients-with-bardet-biedl-syndrome-and-correlation-to-ocular-renal-and-audio-vestibular-phenotype-identification-of-eleven-novel-pathogenic-sequence-variants
#8
Gabriella Esposito, Francesco Testa, Miriam Zacchia, Anna Alessia Crispo, Valentina Di Iorio, Giovanna Capolongo, Luca Rinaldi, Marcella D'Antonio, Tiziana Fioretti, Pasquale Iadicicco, Settimio Rossi, Annamaria Franzè, Elio Marciano, Giovanbattista Capasso, Francesca Simonelli, Francesco Salvatore
BACKGROUND: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that features retinal degeneration, obesity, polydactyly, learning disabilities and renal abnormalities. The diagnosis is often missed at birth, the median age at diagnosis being 9 years. In the attempt to shed light on BBS and improve its diagnosis and treatment, we evaluated the genotype-phenotype relationship in patients with a molecular diagnosis of BBS. METHODS: We analyzed three common BBS genes, BBS1, BBS10 and BBS2, in 25 Italian patients fulfilling the clinical criteria of BBS...
February 1, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28137251/autism-spectrum-disorder-associated-with-49-xyyyy-case-report-and-review-of-the-literature
#9
Caroline Demily, Alice Poisson, Elodie Peyroux, Valérie Gatellier, Alain Nicolas, Caroline Rigard, Caroline Schluth-Bolard, Damien Sanlaville, Massimiliano Rossi
BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype and the natural history of the disease. We report the clinical, neurocognitive, social cognitive and psychiatric characterization of a patient with 49,XYYYY syndrome...
January 31, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28125976/identification-of-novel-candidate-variants-including-col6a6-polymorphisms-in-early-onset-atopic-dermatitis-using-whole-exome-sequencing
#10
Won Il Heo, Kui Young Park, Taewon Jin, Mi-Kyung Lee, MinJeong Kim, Eung Ho Choi, Hae-Suk Kim, Jung Min Bae, Nam Ju Moon, Seong Jun Seo
BACKGROUND: The prevalence of atopic dermatitis has increased over the last 10 years. Atopic dermatitis tends to run in families and commonly begins to manifest in childhood. The prevalence of atopic dermatitis is as high as 20% in children. Thus, early diagnosis and treatment of atopic dermatitis are important. Understanding its genetic basis is also needed to facilitate early detection. METHODS: To identify family-specific candidate genetic variants associated with early-onset atopic dermatitis in Koreans, we carried out whole-exome sequencing of three separate families with this condition...
January 26, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28122515/cpg-methylation-across-the-adipogenic-ppar%C3%AE-gene-and-its-relationship-with-birthweight-and-child-bmi-at-9%C3%A2-years
#11
Vitaly Volberg, Paul Yousefi, Karen Huen, Kim Harley, Brenda Eskenazi, Nina Holland
BACKGROUND: To examine methylation of the peroxisome proliferator-activated receptor γ (PPARγ) gene and its relationship with child weight status, at birth and 9 years. METHODS: We measured PPARγ methylation across 23 CpG sites using the Infinium Illumina 450 k array for children from the Center for the Health Assessment of Mothers and Children of Salinas (CHAMACOS) cohort at birth (N = 373) and 9 years (N = 245). RESULTS: Methylation level correlation patterns across the 23 PPARγ CpG sites were conserved between birth and 9-year ages...
January 26, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28095804/pulmonary-manifestations-in-niemann-pick-type-c-disease-with-mutations-in-npc2-gene-case-report-and-review-of-literature
#12
Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth
BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene. CASE PRESENTATION: Case-1, a 14-months-old female presented with recurrent respiratory distress, failure to thrive and hepatosplenomegaly...
January 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28095793/genetic-variation-underlying-renal-uric-acid-excretion-in-hispanic-children-the-viva-la-familia-study
#13
Geetha Chittoor, Karin Haack, Nitesh R Mehta, Sandra Laston, Shelley A Cole, Anthony G Comuzzie, Nancy F Butte, V Saroja Voruganti
BACKGROUND: Reduced renal excretion of uric acid plays a significant role in the development of hyperuricemia and gout in adults. Hyperuricemia has been associated with chronic kidney disease and cardiovascular disease in children and adults. There are limited genome-wide association studies associating genetic polymorphisms with renal urate excretion measures. Therefore, we investigated the genetic factors that influence the excretion of uric acid and related indices in 768 Hispanic children of the Viva La Familia Study...
January 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28086757/a-combination-of-genetic-and-biochemical-analyses-for-the-diagnosis-of-pi3k-akt-mtor-pathway-associated-megalencephaly
#14
Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Yoshikazu Johmura, Motoo Nakagawa, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Makoto Nakanishi, Shinji Saitoh
BACKGROUND: Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination of genetic and biochemical methods for diagnosis of mTOR pathway-associated megalencephaly, and have attempted to delineate the clinical characteristics of the disorder...
January 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28068926/screening-of-wt1-mutations-in-exon-8-and-9-in-children-with-steroid-resistant-nephrotic-syndrome-from-a-single-centre-and-establishment-of-a-rapid-screening-assay-using-high-resolution-melting-analysis-in-a-clinical-setting
#15
Annes Siji, Varsha Chhotusing Pardeshi, Shilpa Ravindran, Ambily Vasudevan, Anil Vasudevan
BACKGROUND: Mutations in Wilm's tumor 1 (WT1) gene is one of the commonly reported genetic mutations in children with steroid resistant nephrotic syndrome (SRNS). We report the results of direct sequencing of exons 8 and 9 of WT1 gene in 100 children with SRNS from a single centre. We standardized and validated High Resolution Melt (HRM) as a rapid and cost effective screening step to identify individuals with normal sequence and distinguish it from those with a potential mutation. Since only mutation positive samples identified by HRM will be further processed for sequencing it will help in reducing the sequencing burden and speed up the screening process...
January 10, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28061825/new-cdh3-mutation-in-the-first-spanish-case-of-hypotrichosis-with-juvenile-macular-dystrophy-a-case-report
#16
Fiona Blanco-Kelly, Luciana Rodrigues-Jacy da Silva, Iker Sanchez-Navarro, Rosa Riveiro-Alvarez, Miguel Angel Lopez-Martinez, Marta Corton, Carmen Ayuso
BACKGROUND: CDH3 on 16q22.1 is responsible for two rare autosomal recessive disorders with hypotrichosis and progressive macular dystrophy: Hypotrichosis with Juvenile Macular Dystrophy and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy. We present a new case of Hypotrichosis with Juvenile Macular Dystrophy. CASE PRESENTATION: A Spanish male born in 1998 from non-consanguineous healthy parents with a suspected diagnosis of Keratosis Follicularis Spinulosa Decalvans and Retinitis Pigmentosa Inversa referred to our Genetics Department (IIS-Fundación Jiménez Díaz)...
January 7, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28061824/a-novel-nhs-mutation-causes-nance-horan-syndrome-in-a-chinese-family
#17
Qi Tian, Yunping Li, Rizwana Kousar, Hui Guo, Fenglan Peng, Yu Zheng, Xiaohua Yang, Zhigao Long, Runyi Tian, Kun Xia, Haiying Lin, Qian Pan
BACKGROUND: Nance-Horan Syndrome (NHS) (OMIM: 302350) is a rare X-linked developmental disorder characterized by bilateral congenital cataracts, with occasional dental anomalies, characteristic dysmorphic features, brachymetacarpia and mental retardation. Carrier females exhibit similar manifestations that are less severe than in affected males. METHODS: Here, we report a four-generation Chinese family with multiple affected individuals presenting Nance-Horan Syndrome...
January 7, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28007035/sacral-agenesis-a-pilot-whole-exome-sequencing-and-copy-number-study
#18
Robert M Porsch, Elisa Merello, Patrizia De Marco, Guo Cheng, Laura Rodriguez, Manting So, Pak C Sham, Paul K Tam, Valeria Capra, Stacey S Cherny, Maria-Mercè Garcia-Barcelo, Desmond D Campbell
BACKGROUND: Caudal regression syndrome (CRS) or sacral agenesis is a rare congenital disorder characterized by a constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. CRS is a complex condition, attributed to an abnormal development of the caudal mesoderm, likely caused by the effect of interacting genetic and environmental factors. A well-known risk factor is maternal type 1 diabetes. METHOD: Whole exome sequencing and copy number variation (CNV) analyses were conducted on 4 Caucasian trios to identify de novo and inherited rare mutations...
December 22, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27964710/first-case-report-of-inherited-rubinstein-taybi-syndrome-associated-with-a-novel-ep300-variant
#19
María López, Verónica Seidel, Paula Santibáñez, Cristina Cervera-Acedo, Pedro Castro-de Castro, Elena Domínguez-Garrido
BACKGROUND: Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% of cases, respectively. The majority of cases are de novo heterozygous mutations. CASE PRESENTATION: Here we describe a familial RSTS case, associated with a novel EP300 mutation...
December 13, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27955642/short-stature-platyspondyly-hip-dysplasia-and-retinal-detachment-an-atypical-type-ii-collagenopathy-caused-by-a-novel-mutation-in-the-c-propeptide-region-of-col2a1-a-case-report
#20
Apiruk Sangsin, Chalurmpon Srichomthong, Monnat Pongpanich, Kanya Suphapeetiporn, Vorasuk Shotelersuk
BACKGROUND: Heterozygous mutations in COL2A1 create a spectrum of clinical entities called type II collagenopathies that range from in utero lethal to relatively mild conditions which become apparent only during adulthood. We aimed to characterize the clinical, radiological, and molecular features of a family with an atypical type II collagenopathy. CASE PRESENTATION: A family with three affected males in three generations was described. Prominent clinical findings included short stature with platyspondyly, flat midface and Pierre Robin sequence, severe dysplasia of the proximal femora, and severe retinopathy that could lead to blindness...
December 12, 2016: BMC Medical Genetics
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