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BMC Medical Genetics

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https://www.readbyqxmd.com/read/28086757/a-combination-of-genetic-and-biochemical-analyses-for-the-diagnosis-of-pi3k-akt-mtor-pathway-associated-megalencephaly
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/27938333/pseudomyxoma-peritonei-of-a-mature-ovarian-teratoma-caused-by-mismatch-repair-deficiency-in-a-patient-with-lynch-syndrome-a-case-report
#8
Yoshimasa Gohda, Rei Noguchi, Tomoko Horie, Toru Igari, Harumi Nakamura, Yasunori Ohta, Kiyoshi Yamaguchi, Tsuneo Ikenoue, Seira Hatakeyama, Nozomi Yusa, Yoichi Furukawa, Hideaki Yano
BACKGROUND: Pseudomyxoma peritonei (PMP) is a rare disease with an estimated incidence of 1-2 cases per million individuals per year. PMP is characterized by the accumulation of abundant mucinous or gelatinous fluid derived from disseminated tumorous cells. Most of the tumorous cells are originated from rupture of appendiceal neoplasms, but some are from the metastasis of cancer of the colon, ovary, fallopian tube, urachus, colorectum, gallbladder, stomach, pancreas, lung and breast. Although frequent mutations in KRAS and/or GNAS genes have been reported, precise molecular mechanism underlying PMP remains to be elucidated...
December 9, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27938332/a-single-nucleotide-polymorphism-in-the-umod-promoter-is-associated-with-end-stage-renal-disease
#9
Tingyu Chen, Qianliao Wang, Guisen Li, Li Wang
BACKGROUND: Several genome-wide association studies revealed that several variants of UMOD gene were related to the estimated glomerular filtration rate (eGFR), CKD or hypertension. In this study, we investigated the association between a common variant rs13333226 in the promoter region of UMOD gene and end stage renal disease (ESRD). METHODS: Variant rs13333226 of UMOD gene was genotyped by using the ABI Real time TaqMan allelic discrimination assay in a case-control study including 638 unrelated patients with ESRD and 366 controls...
December 9, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27919237/a-novel-ano3-variant-identified-in-a-53-year-old-woman-presenting-with-hyperkinetic-dysarthria-blepharospasm-hyperkinesias-and-complex-motor%C3%A2-tics
#10
Patrick R Blackburn, Michael T Zimmermann, Jennifer M Gass, Kimberly G Harris, Margot A Cousin, Nicole J Boczek, Owen A Ross, Eric W Klee, Paul W Brazis, Jay A Van Gerpen, Paldeep S Atwal
BACKGROUND: Cervical dystonias have a variable presentation and underlying etiology, but collectively represent the most common form of focal dystonia. There are a number of known genetic forms of dystonia (DYT1-27); however the heterogeneity of disease presentation does not always make it easy to categorize the disease by phenotype-genotype comparison. CASE PRESENTATION: In this report, we describe a 53-year-old female who presented initially with hand tremor following a total hip arthroplasty...
December 5, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27919232/microrna-27a-rs895819-is-associated-with-obesity-in-hiv-infected-preeclamptic-black-south-african-women-on-haart
#11
Niren Ray Maharaj, Prithiksha Ramkaran, Siddharthiya Pillay, Anil Amichund Chuturgoon
BACKGROUND: Preeclampsia (PE) and HIV/AIDS present a major health challenge globally. South Africa has the highest disease burden of both HIV/AIDS and PE in the world. Despite extensive research, the pathophysiology of these conditions is not completely understood, however a genetic predisposition in women may affect susceptibility. MiRNA-27a regulates adipogenesis and glucose metabolism. A single nucleotide polymorphism (SNP) in miRNA-27a (rs895819T > C) has shown to have disparate effects in various populations...
December 5, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27912749/whole-exome-sequencing-identifies-a-novel-missense-fbn2-mutation-co-segregating-in-a-four-generation-chinese-family-with-congenital-contractural-arachnodactyly
#12
Xingping Guo, Chunying Song, Yaping Shi, Hongxia Li, Weijing Meng, Qinzhao Yuan, Jinjie Xue, Jun Xie, Yunxia Liang, Yanan Yuan, Baofeng Yu, Huaixiu Wang, Yun Chen, Lixin Qi, Xinmin Li
BACKGROUND: Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contractures), like bent fingers and toes (camptodactyly). CASE PRESENTATION: In this study, we investigated the genetic aetiology of CCA in a four-generation Chinese family. The blood samples were collected from 22 living members of the family in the Yangquan County, Shanxi Province, China...
December 3, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27905898/physical-activity-and-sedentary-behavior-can-modulate-the-effect-of-the-pnpla3-variant-on-childhood-nafld-a-case-control-study-in-a-chinese-population
#13
Shuo Wang, Jieyun Song, Xiaorui Shang, Nitesh Chawla, Yide Yang, Xiangrui Meng, Haijun Wang, Jun Ma
BACKGROUND: The patatin like phospholipase containing domain 3 gene (PNPLA3) rs738409 C > G polymorphism, one of the most important gene polymorphisms involved in hepatic steatosis, has been reported to interact with different nutrients and dietary patterns on Non-Alcoholic Fatty Liver Disease (NAFLD), but no studies have focused on its interaction with physical activity or sedentary behavior. Therefore, this study aims at determining whether physical activity or sedentary behavior could modulate the effect of the PNPLA3 variant on childhood NAFLD...
December 1, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27884122/assessment-of-copy-number-variations-in-120-patients-with-poland-syndrome
#14
Carlotta Maria Vaccari, Elisa Tassano, Michele Torre, Stefania Gimelli, Maria Teresa Divizia, Maria Victoria Romanini, Simone Bossi, Ilaria Musante, Maura Valle, Filippo Senes, Nunzio Catena, Maria Francesca Bedeschi, Anwar Baban, Maria Grazia Calevo, Massimo Acquaviva, Margherita Lerone, Roberto Ravazzolo, Aldamaria Puliti
BACKGROUND: Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify genomic imbalances that can clarify the genetic etiology of congenital and neurodevelopmental disorders...
November 25, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27881089/abnormal-primary-and-permanent-dentitions-with-ectodermal-symptoms-predict-wnt10a-deficiency
#15
Birgitta Bergendal, Johanna Norderyd, Xiaolei Zhou, Joakim Klar, Niklas Dahl
BACKGROUND: The WNT10A protein is critical for the development of ectodermal appendages. Variants in the WNT10A gene may be associated with a spectrum of ectodermal abnormalities including extensive tooth agenesis. METHODS: In seven patients with severe tooth agenesis we identified anomalies in primary dentition and additional ectodermal symptoms, and assessed WNT10A mutations by genetic analysis. RESULTS: Investigation of primary dentition revealed peg-shaped crowns of primary mandibular incisors and three individuals had agenesis of at least two primary teeth...
November 24, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27876007/effect-of-pregnane-x-receptor-1b-genetic-polymorphisms-on-postoperative-analgesia-with-fentanyl-in-chinese-patients-undergoing-gynecological-surgery
#16
Jing-Jing Yuan, Xiao-Jing Ma, Zhi-Song Li, Yan-Zi Chang, Wei Zhang, Quan-Cheng Kan, Jun-Kai Hou, Li-Rong Zhang
BACKGROUND: The purpose of the study was to investigate the effects of the pregnane X receptor (PXR)*1B polymorphisms on CYP3A4 enzyme activity and postoperative fentanyl consumption in Chinese patients undergoing gynecological surgery. METHODS: A total of 287 females of Han ethnicity, aged 20 to 50 years old, ASA I or II, scheduled to abdominal total hysterectomy or myomectomy under general anesthesia were enrolled. The analgesic model used was fentanyl consumption via patient-controlled intravenous analgesia (PCIA) in the post-operative period...
November 23, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27871249/benign-clear-cell-sugar-tumor-of-the-lung-in-a-patient-with-birt-hogg-dub%C3%A3-syndrome-a-case-report
#17
Yoko Gunji-Niitsu, Toshio Kumasaka, Shigehiro Kitamura, Yoshito Hoshika, Takuo Hayashi, Hitoshi Tokuda, Riichiro Morita, Etsuko Kobayashi, Keiko Mitani, Mika Kikkawa, Kazuhisa Takahashi, Kuniaki Seyama
BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal genodermatosis and caused by germline mutation of the folliculin (FLCN) gene, a tumor suppressor gene of which protein product is involved in mechanistic target of rapamycin (mTOR) signaling pathway regulating cell growth and metabolism. Clinical manifestations in BHD syndrome is characterized by fibrofolliculomas of the skin, pulmonary cysts with or without spontaneous pneumothorax, and renal neoplasms. There has been no pulmonary neoplasm reported in BHD syndrome, although the condition is due to deleterious sequence variants in a tumor suppressor gene...
November 21, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27871226/functional-validation-of-novel-compound-heterozygous-variants-in-b3gat3-resulting-in-severe-osteopenia-and-fractures-expanding-the-disease-phenotype
#18
Florian Job, Shuji Mizumoto, Laurie Smith, Natario Couser, Ashley Brazil, Howard Saal, Melanie Patterson, Margaret I Gibson, Sarah Soden, Neil Miller, Isabelle Thiffault, Carol Saunders, Shuhei Yamada, Katrin Hoffmann, Kazuyuki Sugahara, Emily Farrow
BACKGROUND: A new disease class of syndromes, described as linkeropathies, which are derived from defects in the glycosaminoglycan-linker region as well as glycosaminoglycan-side chains of proteoglycans is increasingly being recognized as a cause of human disease. Proteoglycans are an essential component of the extracellular matrix. Defects in the enzymatic process of proteoglycan synthesis broadly occur due to the incorrect addition of side chains. Previously, homozygous missense variants within the B3GAT3 gene encoding beta 1,3 glucuronyltransferase 3(GlcAT-I) responsible for the biosynthesis of glycosaminoglycans have been described in 7 individuals...
November 21, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27855655/two-hits-in-one-whole-genome-sequencing-unveils-lig4-syndrome-and-urofacial-syndrome-in-a-case-report-of-a-child-with-complex-phenotype
#19
Abeer Fadda, Fiza Butt, Sara Tomei, Sara Deola, Bernice Lo, Amal Robay, Alya Al-Shakaki, Noor Al-Hajri, Ronald Crystal, Marios Kambouris, Ena Wang, Francesco M Marincola, Khalid A Fakhro, Chiara Cugno
BACKGROUND: Ligase IV syndrome, a hereditary disease associated with compromised DNA damage response mechanisms, and Urofacial syndrome, caused by an impairment of neural cell signaling, are both rare genetic disorders, whose reports in literature are limited. We describe the first case combining both disorders in a specific phenotype. CASE PRESENTATION: We report a case of a 7-year old girl presenting with a complex phenotype characterized by multiple congenital abnormalities and dysmorphic features, microcephaly, short stature, combined immunodeficiency and severe vesicoureteral reflux...
November 17, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27855642/mutation-of-a-common-amino-acid-in-nkx2-5-results-in-dilated-cardiomyopathy-in-two-large-families
#20
Alan Hanley, Katie A Walsh, Caroline Joyce, Michael A McLellan, Sebastian Clauss, Amaya Hagen, Marisa A Shea, Nathan R Tucker, Honghuang Lin, Gerard J Fahy, Patrick T Ellinor
BACKGROUND: The genetic basis for dilated cardiomyopathy (DCM) can be difficult to determine, particularly in familial cases with complex phenotypes. Next generation sequencing may be useful in the management of such cases. METHODS: We report two large families with pleiotropic inherited cardiomyopathy. In addition to DCM, the phenotypes included atrial and ventricular septal defects, cardiac arrhythmia and sudden death. Probands underwent whole exome sequencing to identify potentially causative variants...
November 17, 2016: BMC Medical Genetics
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