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BMC Medical Genetics

Maria S Fedorova, George S Krasnov, Elena N Lukyanova, Andrew R Zaretsky, Alexey A Dmitriev, Nataliya V Melnikova, Alexey A Moskalev, Sergey L Kharitonov, Elena A Pudova, Zulfiya G Guvatova, Anastasiya A Kobelyatskaya, Irina A Ishina, Elena N Slavnova, Anastasia V Lipatova, Maria A Chernichenko, Dmitry V Sidorov, Anatoly Y Popov, Marina V Kiseleva, Andrey D Kaprin, Anastasiya V Snezhkina, Anna V Kudryavtseva
BACKGROUND: CpG island methylator phenotype (CIMP) is found in 15-20% of malignant colorectal tumors and is characterized by strong CpG hypermethylation over the genome. The molecular mechanisms of this phenomenon are not still fully understood. The development of CIMP is followed by global gene expression alterations and metabolic changes. In particular, CIMP-low colon adenocarcinoma (COAD), predominantly corresponded to consensus molecular subtype 3 (CMS3, "Metabolic") subgroup according to COAD molecular classification, is associated with elevated expression of genes participating in metabolic pathways...
April 9, 2019: BMC Medical Genetics
Anastasiya V Snezhkina, Elena N Lukyanova, Andrew R Zaretsky, Dmitry V Kalinin, Anatoly V Pokrovsky, Alexander L Golovyuk, George S Krasnov, Maria S Fedorova, Elena A Pudova, Sergey L Kharitonov, Nataliya V Melnikova, Boris Y Alekseev, Marina V Kiseleva, Andrey D Kaprin, Alexey A Dmitriev, Anna V Kudryavtseva
BACKGROUND: Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from the paraganglion at the bifurcation of the carotid artery and are responsible for approximately 65% of all head and neck paragangliomas. CPGLs can occur sporadically or along with different hereditary tumor syndromes. Approximately 30 genes are known to be associated with CPGLs. However, the genetic basis behind the development of these tumors is not fully elucidated, and the molecular mechanisms underlying CPGL pathogenesis remain unclear...
April 9, 2019: BMC Medical Genetics
Diana Z Osmanova, Maxim B Freidin, Olga Yu Fedorenko, Ivan V Pozhidaev, Anastasiia S Boiko, Natalia M Vyalova, Vladimir V Tiguntsev, Elena G Kornetova, Anton J M Loonen, Arkadiy V Semke, Bob Wilffert, Nikolay A Bokhan, Svetlana A Ivanova
BACKGROUND: Hyperprolactinemia (HPRL) is a classical side effect of antipsychotic drugs primarily attributed to blockade of dopamine D2 receptors (DRD2s) on the membranes of lactotroph cells within the pituitary gland. Certain antipsychotic drugs, e.g. risperidone, are more likely to induce HPRL because of relative accumulation within the adenohypophysis. Nevertheless, due to competition for pituitary DRD2s by high dopamine levels may limit antipsychotic-induced HPRL. Moreover, the activity of prolactin-producing lactotrophs also depends on other hormones which are regulated by the extra-pituitary activity of dopamine receptors, dopamine transporters, enzymes of neurotransmitter metabolism and other factors...
April 9, 2019: BMC Medical Genetics
Ancha V Baranova, Mikhail Yu Skoblov, Elena N Voropaeva, Piramanayagam Shanmughavel, Yuriy L Orlov
No abstract text is available yet for this article.
April 9, 2019: BMC Medical Genetics
Andrey A Yurchenko, Nikolai S Yudin, Mikhail I Voevoda
BACKGROUND: Population structure is an important factor in the genetic association studies but often remains underexplored for many human populations. We identified exome variants in 39 Siberian Caucasian individuals from Novosibirsk, Russia and compared their genetic allele frequencies with European populations from 1000 Genomes Project. METHODS: The study participants were from Novosibirsk and represented people with monogenic diabetes, healthy individuals and a cohort from the tick-borne encephalitis study...
April 9, 2019: BMC Medical Genetics
Julia O Fedotova
BACKGROUND: Estrogen deficiency effects on affective-related behavior are restricted to certain periods of age after ovary removal. Among other nutraceuticals, one of such «natural» substances for treatment of affective-related diseases could be vitamin D3 . It is a great interest to evaluate the effects of repeated cholecalciferol administration on anxiety-related behavior in the old female rats with long-term estrogen deficiency. The present study was performed to determine the behavioral effects of cholecalciferol treatment at different doses as an adjunctive therapy alone or in a combination with low dose of 17β-estradiol on anxiety-like behavior of the old (16-18 months) female rats at 12 weeks after ovariectomy...
April 9, 2019: BMC Medical Genetics
Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger, Nicole Weisschuh
BACKGROUND: Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A. To date, all reports of pathogenic TMEM126A variants are from affected individuals of Maghrebian origin, who all carry an identical nonsense variant. Here we report two novel variants in the TMEM126A gene from non-Maghreb individuals, both found in affected individuals with an arOA phenotype. CASE PRESENTATION: We report three affected individuals from two families...
April 8, 2019: BMC Medical Genetics
Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou, Qiuju Wang
BACKGROUND: MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for MYO15A variants in exon 2, which cause a milder auditory phenotype, suggesting a genotype-phenotype correlation of MYO15A. However, MYO15A variants not in exon 2 related to a milder phenotype have also been reported, indicating that the genotype-phenotype correlation of MYO15A is complicated...
April 5, 2019: BMC Medical Genetics
Malena P Pantou, Polyxeni Gourzi, Aggeliki Gkouziouta, Iakovos Armenis, Loukas Kaklamanis, Christianna Zygouri, Pantelis Constantoulakis, Stamatis Adamopoulos, Dimitrios Degiannis
BACKGROUND: Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form. CASE PRESENTATION: Here we describe a female proband with a severely manifested restrictive phenotype leading to heart transplantation at the age of 41, who was found homozygous for the novel TNNI3 mutation: NM_000363.4:c.586G > C, p.(Asp196His). Her parents were third-degree cousins originating from a small village and although they were found heterozygous for the same variant they displayed no symptoms of the disease...
April 5, 2019: BMC Medical Genetics
Ying-Ying Luo, Hong-Peng Zhang, Ai-Long Huang, Jie-Li Hu
BACKGROUND: Several studies have focused on the association between KIF1B rs17401966 polymorphism and susceptibility to hepatitis B virus-related (HBV-related) hepatocellular carcinoma (HCC), but the conclusions have been inconsistent. We have conducted this updated meta-analysis to explore the association between KIF1B rs17401966 polymorphism and HCC susceptibility. METHODS: Eligible studies were identified through systematic searches in PubMed, OVID, ISI Web of Science, Chinese National Knowledge Infrastructure, and Wanfang databases...
April 4, 2019: BMC Medical Genetics
Jun Kanazawa, Haruna Kitazawa, Hironori Masuko, Yohei Yatagai, Tohru Sakamoto, Yoshiko Kaneko, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Emiko Noguchi, Satoshi Konno, Masaharu Nishimura, Tomomitsu Hirota, Mayumi Tamari, Nobuyuki Hizawa
BACKGROUND: The chitinase-like protein YKL-40 plays a major role in inhibiting the inflammasome. Deregulation of inflammasome activation is emerging as a key modulator of pathologic airway inflammation in patients with asthma. We determined whether cis-expression quantitative trait loci (eQTLs) of the gene that encodes YKL-40, chitinase 3-like 1 (CHI3L1), are involved in the onset of asthma or in specific asthma phenotypes. METHODS: This case-control study, which was conducted at the University of Tsukuba, Japan, included a total of 2709 adults from the Tsukuba genome-wide association study (GWAS) cohort (734 healthy volunteers and 237 asthma patients), the Tsukuba replication cohort (375 healthy adult volunteers and 381 adult asthma patients), and the Hokkaido replication cohort (554 healthy adult volunteers and 428 adult asthma patients)...
April 2, 2019: BMC Medical Genetics
Gi-Sung Nam, John Hoon Rim, Jae Young Choi, Heon Yung Gee, Jong Rak Choi, Seung-Tae Lee, Jinsei Jung
BACKGROUND: Many mutations in the α-tectorin gene (TECTA) have been reported to cause non-syndromic hearing loss (NSHL) in either a dominant or recessive inheritance pattern. Among the identified TECTA mutations, H1400Y has been associated with NSHL in two independent studies. However, its exact role in contributing to genetic hearing loss remains elusive. CASE PRESENTATION: We herein report the whole-exome sequencing of a proband presenting with prelingual, non-progressive, mild-to-moderate hearing loss in a simplex family...
April 1, 2019: BMC Medical Genetics
Xin Liao, Tong Zhang, Bingyang Li, Shimin Hu, Junyu Liu, Jing Deng, Hongzhuan Tan, Junxia Yan
BACKGROUND: RNF213 rare variant-p.R4810K (rs112735431) was significantly associated with intracranial artery stenosis/occlusion disease (ICASO) in Japan and Korea and to a lesser degree in China. Considering the allelic heterogeneity, we performed target exome sequencing of RNF213 with the aim to identify the rare variants spectrum and their association with ICASO in a Chinese population and further to explore whether the rare variants carrier patients present specific clinical phenotype...
March 29, 2019: BMC Medical Genetics
Bin Zhao, Yanqiu You, Zheng Wan, Yunhan Ma, Yani Huo, Hongyi Liu, Yuanyuan Zhou, Wei Quan, Weibin Chen, Xiaohong Zhang, Fujun Li, Yilin Zhao
BACKGROUND: Primary cutaneous malignant melanoma is a cancer of the pigment cells of the skin, some of which are accompanied by BRAF mutation. Melanoma incidence and mortality rates have been rising around the world. As the current knowledge about pathogenesis, clinical and genetic features of cutaneous melanoma is not very clear, we aim to use bioinformatics to identify the potential key genes involved in the expression and mutation status of BRAF. METHODS: Firstly, we used UCSC public hub datasets of melanoma (Lin et al...
March 29, 2019: BMC Medical Genetics
Junling Fu, Tong Wang, Xinhua Xiao
BACKGROUND: PHKA2 gene mutations can cause liver phosphorylase kinase (PhK) deficiency, resulting in glycogen storage disease type IXa (GSD IXa). Elevated liver transaminase levels and liver enlargement are the most frequent phenotypes of GSD IXa. However, whether the phenotypes are applicable to Chinese patients remains unclear. CASE REPORT: A boy aged 2 years and 8 months with a history of episodic fatigue and weakness since he was 2 years old was referred to our endocrinology clinic...
March 29, 2019: BMC Medical Genetics
Ben Pode-Shakked, Asaf Vivante, Ortal Barel, Shai Padeh, Dina Marek-Yagel, Alvit Veber, Shachar Abudi, Aviva Eliyahu, Irit Tirosh, Shiri Shpilman, Shirlee Shril, Friedhelm Hildebrandt, Mordechai Shohat, Yair Anikster
BACKGROUND: Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene. Although several hundred cases were reported worldwide, the diagnosis remains challenging. Subsequently, the syndrome is often unrecognized and misdiagnosed (for instance, as Juvenile Idiopathic Arthritis), leading to unnecessary procedures and treatments. The objective of the current study was to identify the molecular basis in a family with PPRD and describe their phenotype and course of illness...
March 29, 2019: BMC Medical Genetics
Wenzhuang Tang, Tianbiao Zhou, Zhiqing Zhong, Hongzhen Zhong
BACKGROUND: The purpose of this study was to detect the effects of vascular endothelial growth factor (VEGF) on systemic lupus erythematosus (SLE) risk. METHODS: Associated studies were extracted from the China Biological Medicine Database (CBM), and PubMed on June 10, 2018, and applicable investigations were pooled and analyzed by meta-analysis using RevMan 5.3. RESULTS: VEGF levels was associated with SLE risk (mean differences (MD) =196...
March 22, 2019: BMC Medical Genetics
N V Petrova, N Y Kashirskaya, D K Saydaeva, A V Polyakov, T A Adyan, O I Simonova, Y V Gorinova, E I Kondratyeva, V D Sherman, O G Novoselova, T A Vasilyeva, A V Marakhonov, M Macek, E K Ginter, R A Zinchenko
BACKGROUND: Cystic fibrosis (CF; OMIM #219700) is a common autosomal recessive disease caused by pathogenic variants (henceforward mutations) in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The spectrum and frequencies of CFTR mutations vary among different populations. Characterization of the specific distribution of CFTR mutations can be used to optimize genetic counseling, foster reproductive choices, and facilitate the introduction of mutation-specific therapies...
March 21, 2019: BMC Medical Genetics
Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Zahra Hojaji, Parham Habibzadeh, Dorna Afshinfar, Mohammad Miryounesi, Majid Fardaei, Mohammad Ali Faghihi
BACKGROUND: DNA double-strand breaks (DSBs) are among the most deleterious types of DNA damage. DSBs are repaired by homologous recombination or non-homologous end-joining (NHEJ). NHEJ, which is central to the process of V(D)J recombination is the principle pathway for DSB repair in higher eukaryotes. Mutations in NHEJ1 gene have been associated with severe combined immunodeficiency. CASE PRESENTATION: The patient was a 3.5-year-old girl, a product of consanguineous first-degree cousin marriage, who was homozygous for a nonsense mutation in NHEJ1 gene...
March 21, 2019: BMC Medical Genetics
Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu, Qizhu Wu
BACKGROUND: To investigate the clinical features and the underlying causal gene of a family with hereditary late-onset deafness in Inner Mongolia of China, and to provide evidence for the early genetic screening and diagnosis of this disease. METHODS: Family data were collected to draw a pedigree. Audiological testing and physical examination of the family members were conducted following questionnaire. Genomic DNA was extracted from peripheral blood of 5 family members (3 patients and 2 normal control) and subjected to whole genome sequencing for identifying deafness casual genes...
March 20, 2019: BMC Medical Genetics
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