Articles

Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report

Progressive bilateral sensorineural deafness in postlingual period may be linked to many different etiologies including genetic factors. Identification of the exact deafness cause may, therefore, be quite chal...

Authors: Lukas Varga, Daniel Danis, Martina Skopkova, Ivica Masindova, Zuzana Slobodova, Lucia Demesova, Milan Profant and Daniela Gasperikova

Genetic relationship between IL-10 gene polymorphisms and the risk of clinical atopic dermatitis

We retrieved different reports containing different genetic effects of − 1082 A/G, − 819 T/C, and − 592 A/C polymorphisms within the IL-10 (interleukin-10) gene on the susceptibility to clinical atopic dermatitis...

Authors: Yuqing Qi, Jie Kong and Jinyan He

The VDR gene FokI polymorphism is associated with gestational diabetes mellitus in Turkish women

The association between the vitamin D receptor (VDR) gene and gestational diabetes mellitus (GDM) has not been investigated in Turkish pregnant women. We aimed to investigate associations between VDR gene BsmI (r...

Authors: Mahmut Apaydın, Selvihan Beysel, Nilnur Eyerci, Ferda Alparslan Pinarli, Mustafa Ulubay, Muhammed Kizilgul, Ozhan Ozdemir, Mustafa Caliskan and Erman Cakal

The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age

The prevalence of CGG repeat expansion mutation in FMR1 gene varies among different populations. In this study, we investigated the prevalence of this mutation in women of reproductive age from northern China.

Authors: Yinan Ma, Xing Wei, Hong Pan, Songtao Wang, Xin Wang, Xiaowei Liu, Liying Zou, Xiaomei Wang, Xiaorong Wang, Hua Yang, Fengying Wang, Kefang Wang, Lifang Sun, Xiaolin Qiao, Yue Yang, Xiuhua Ma…

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

Intellectual disability/developmental delay is a complex condition with extraordinary heterogeneity. A large proportion of patients lacks a specific diagnosis. Next generation sequencing, enabling identificati...

Authors: Huifang Yan, Zhen Shi, Ye Wu, Jiangxi Xiao, Qiang Gu, Yanling Yang, Ming Li, Kai Gao, Yinyin Chen, Xiaoping Yang, Haoran Ji, Binbin Cao, Ruoyu Duan, Yuwu Jiang and Jingmin Wang

Associations between XRCC3 Thr241Met polymorphisms and breast cancer risk: systematic-review and meta-analysis of 55 case-control studies

The X-ray repair cross-complementing group 3 (XRCC3) is an efficient component of homologous recombination and is required for the preservation of chromosomal integrity in mammalian cells. The association between...

Authors: Sepideh Dashti, Zahra Taherian-Esfahani, Abbasali Keshtkar and Soudeh Ghafouri-Fard

A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report

Few manuscripts have reported phenotypes of skeletal muscle myopathies caused by mutations in the head region of slow/cardiac beta-myosin heavy chain (MyHCI). Among the patients, some of them showed the phenot...

Authors: Jean Mamelona, Louisa Filice, Youcef Oussedik, Nicolas Crapoulet, Rodney J. Ouellette and Alier Marrero

VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype

Mitochondrial respiratory chain consists of five complexes encoded by nuclear and mitochondrial genomes. Mitochondrial aminoacyl-tRNA synthetases are key enzymes in the synthesis of such complexes. Bi-allelic ...

Authors: Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta and Stefano Sotgiu

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin

Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by motor, sensory, and cranial neuronopathies, is mainly associated with defective riboflavin transporters encoded by SLC52...

Authors: Kaili Shi, Zhen Shi, Huifang Yan, Xiaodong Wang, Yanling Yang, Hui Xiong, Qiang Gu, Ye Wu, Yuwu Jiang and Jingmin Wang

BRIP-1 germline mutation and its role in colon cancer: presentation of two case reports and review of literature

Hereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in “novel” genes as confe...

Authors: Mir Ali, Celia Dawn Delozier and Uzair Chaudhary

Molecular analysis of a large novel deletion causing α⁺-thalassemia

α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to ...

Authors: Jianlong Zhuang, Jie Tian, Jitao Wei, Yu Zheng, Qianmei Zhuang, Yuanbai Wang, Qingyue Xie, Shuhong Zeng, Geng Wang, Yanchao Pan and Yuying Jiang

Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer

Pathogenic variants associated with hereditary breast cancer have been reported for BRCA1 and BRCA2 (BRCA1/2) genes in patients from multiple ethnicities, but limited information is available from sub-Saharan Afr...

Authors: Jean Pascal Demba Diop, Rokhaya Ndiaye Diallo, Violaine Bourdon-Huguenin, Ahmadou Dem, Doudou Diouf, Mamadou Moustapha Dieng, Seydi Abdoul Ba, Yacouba Dia, Sidy Ka, Babacar Mbengue, Alassane Thiam, Oumar Faye, Papa Amadou Diop, Hagay Sobol and Alioune Dieye

Intronic polymorphisms in genes LRFN2 (rs2494938) and DNAH11 (rs2285947) are prognostic indicators of esophageal squamous cell carcinoma

Genome wide association study (GWAS) has become the major means to screen for the genetic variants associated with risk and prognosis of different diseases. A recent GWAS has discovered three novel intronic si...

Authors: Jiru Wang, Qiuzi Wang, Bin Wei, Yu Zhou, Zhaoye Qian, Yong Gao and Xiaofei Chen

A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome

Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular ab...

Authors: Xiaoyi Yan, Jie Lin, Yifan Wang, Junli Xuan, Ping Yu, Tingwei Guo and Fan Jin

Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases

X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) is a skeletal disorder characterized by defective structures of vertebral bodies and/or of epiphyses of the long bones, resulting in moderately short statu...

Authors: Joon Yeon Won, Dayeon Kim, Seon Young Park, Hye Ran Lee, Jong-Seok Lim, Jong Hoon Park, Mi Hyun Song, Hae Ryong Song, Ok-Hwa Kim, Yonghwan Kim and Tae-Joon Cho

Identification of novel sarcoma risk genes using a two-stage genome wide DNA sequencing strategy in cancer cluster families and population case and control cohorts

Although familial clustering of cancers is relatively common, only a small proportion of familial cancer risk can be explained by known cancer predisposition genes.

Authors: Rachel M. Jones, Phillip E. Melton, Mark Pinese, Alexander J. Rea, Evan Ingley, Mandy L. Ballinger, David J. Wood, David M. Thomas and Eric K. Moses

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss

Usher syndrome, the most common form of inherited deaf-blindness, is unlike many other forms of syndromic hereditary hearing loss in that the extra aural clinical manifestations are also detrimental to communi...

Authors: Justin A. Pater, Jane Green, Darren D. O’Rielly, Anne Griffin, Jessica Squires, Taylor Burt, Sara Fernandez, Bridget Fernandez, Jim Houston, Jiayi Zhou, Nicole M. Roslin and Terry-Lynn Young

MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years

Lynch syndrome, is an autosomal dominantly inherited disease that predisposes individuals to a high risk of colorectal cancers, and some mismatch-repair genes have been identified as causative genes. The purpo...

Authors: Tomoyuki Momma, Kenji Gonda, Yoshinori Akama, Eisei Endo, Daisuke Ujiie, Shotaro Fujita, Yuko Maejima, Shoichiro Horita, Kenju Shimomura, Shigehira Saji, Koji Kono, Rei Yashima, Fumiaki Watanabe, Kokichi Sugano and Tadashi Nomizu

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl

Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disea...

Authors: A. N. Semyachkina, E. Y. Voskoboeva, E. Y. Zakharova, E. A. Nikolaeva, I. V. Kanivets, A. D. Kolotii, G. V. Baydakova, M. N. Kharabadze, R. G. Kuramagomedova and N. V. Melnikova

Functional characterization of two enhancers located downstream FOXP2

Mutations in the coding region of FOXP2 are known to cause speech and language impairment. However, it is not clear how dysregulation of the gene contributes to language deficit. Interestingly, microdeletions of ...

Authors: Raúl Torres-Ruiz, Antonio Benítez-Burraco, Marta Martínez-Lage, Sandra Rodríguez-Perales and Paloma García-Bellido

GATA2 mutation in long stand Mycobacterium kansasii infection, myelodysplasia and MonoMAC syndrome: a case-report

GATA2 is a transcription factor that is a critical regulator of gene expression in hematopoietic cells. GATA2 deficiency presents with multi-lineage cytopenia, mycobacterial, fungal and viral infections. Patie...

Authors: Daniela Palheiro Mendes-de-Almeida, Francianne Gomes Andrade, Gustavo Borges, Filipe V. dos Santos-Bueno, Iracema F. Vieira, Luana Kelly M. da S. da Rocha, Daniella A. Mendes-da-Cruz, Rosely M. Zancopé-Oliveira, Rodrigo T. Calado and Maria S. Pombo-de-Oliveira

Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology

We performed clinical and genetic characterization of a family with cavitary optic disc anomaly (CODA), an autosomal dominant condition that causes vision loss due to adult-onset maculopathy in the majority of...

Authors: Eileen S. Hwang, Denise J. Morgan, Katie L. Pennington, Leah A. Owen, John H. Fingert, Paul S. Bernstein and Margaret M. DeAngelis

The CIMP-high phenotype is associated with energy metabolism alterations in colon adenocarcinoma

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...

Authors: 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…

Exome-wide survey of the Siberian Caucasian population

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...

Authors: Andrey A. Yurchenko, Nikolai S. Yudin and Mikhail I. Voevoda

Medical genetics studies at BGRS conference series

Authors: Ancha V. Baranova, Mikhail Yu. Skoblov, Elena N. Voropaeva, Piramanayagam Shanmughavel and Yuriy L. Orlov

Vitamin D₃ treatment differentially affects anxiety-like behavior in the old ovariectomized female rats and old ovariectomized female rats treated with low dose of 17β-estradiol

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-r...

Authors: Julia O. Fedotova

Novel potential causative genes in carotid paragangliomas

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 paragangli...

Authors: 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 and Anna V. Kudryavtseva

A pharmacogenetic study of patients with schizophrenia from West Siberia gets insight into dopaminergic mechanisms of antipsychotic-induced hyperprolactinemia

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. Ce...

Authors: 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 and Svetlana A. Ivanova

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

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 vari...

Authors: Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger and Nicole Weisschuh

A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3)

Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form.

Authors: Malena P. Pantou, Polyxeni Gourzi, Aggeliki Gkouziouta, Iakovos Armenis, Loukas Kaklamanis, Christianna Zygouri, Pantelis Constantoulakis, Stamatis Adamopoulos and Dimitrios Degiannis

Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

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...

Authors: Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou and Qiuju Wang

Association between KIF1B rs17401966 genetic polymorphism and hepatocellular carcinoma susceptibility: an updated meta-analysis

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...

Authors: Ying-ying Luo, Hong-peng Zhang, Ai-long Huang and Jie-li Hu

A cis-eQTL allele regulating reduced expression of CHI3L1 is associated with late-onset adult asthma in Japanese cohorts

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 as...

Authors: 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 and Nobuyuki Hizawa

The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report

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 ...

Authors: Gi-Sung Nam, John Hoon Rim, Jae Young Choi, Heon Yung Gee, Jong Rak Choi, Seung-Tae Lee and Jinsei Jung

A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review

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...

Authors: Junling Fu, Tong Wang and Xinhua Xiao

Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study

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 hete...

Authors: Xin Liao, Tong Zhang, Bingyang Li, Shimin Hu, Junyu Liu, Jing Deng, Hongzhuan Tan and Junxia Yan

Weighted correlation network and differential expression analyses identify candidate genes associated with BRAF gene in melanoma

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 ...

Authors: Bin Zhao, Yanqiu You, Zheng Wan, Yunhan Ma, Yani Huo, Hongyi Liu, Yuanyuan Zhou, Wei Quan, Weibin Chen, Xiaohong Zhang, Fujun Li and Yilin Zhao

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature

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 ...

Authors: 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 and Yair Anikster

Meta-analysis of associations of vascular endothelial growth factor protein levels and -634G/C polymorphism with systemic lupus erythematosus susceptibility

The purpose of this study was to detect the effects of vascular endothelial growth factor (VEGF) on systemic lupus erythematosus (SLE) risk.

Authors: Wenzhuang Tang, Tianbiao Zhou, Zhiqing Zhong and Hongzhen Zhong

An immunocompetent patient with a nonsense mutation in NHEJ1 gene

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 ...

Authors: Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Zahra Hojaji, Parham Habibzadeh, Dorna Afshinfar, Mohammad Miryounesi, Majid Fardaei and Mohammad Ali Faghihi

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus

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 spectr...

Authors: 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 Jr, E. K. Ginter and R. A. Zinchenko

A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family

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 diagn...

Authors: Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu and Qizhu Wu

A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract

Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subc...

Authors: Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang and Yi Lu

X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review

Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported.

Authors: Naihong Yan, Lirong Xiao, Chen Hou, Bo Guo, Wei Fan, Yingping Deng and Ke Ma

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report

Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory, tactile, and visual stimuli and generalized muscle st...

Authors: Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri and Domenica Battaglia

Effects of early- and mid-life stress on DNA methylation of genes associated with subclinical cardiovascular disease and cognitive impairment: a systematic review

Traditional and novel risk factors cannot sufficiently explain the differential susceptibility to cardiovascular disease (CVD). Epigenetics may serve to partially explain this residual disparity, with life cou...

Authors: Elena M. Vidrascu, Alexander C. Bashore, Timothy D. Howard and Justin B. Moore

A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia

The KMT2A gene encoded lysine methyltransferase plays an essential role in regulating gene expression during early development and hematopoiesis. To date, 92 different mutations of KMT2A have been curated in the ...

Authors: Haixia Zhang, Bingwu Xiang, Hui Chen, Xiang Chen and Tao Cai

HIF-1 transcription activity: HIF1A driven response in normoxia and in hypoxia

HIF1A (Hypoxia-Inducible-Factor 1A) expression in solid tumors is relevant to establish resistance to therapeutic approaches. The use of compounds direct against hypoxia signaling and HIF1A does not show clini...

Authors: Flora Cimmino, Marianna Avitabile, Vito Alessandro Lasorsa, Annalaura Montella, Lucia Pezone, Sueva Cantalupo, Feliciano Visconte, Maria Valeria Corrias, Achille Iolascon and Mario Capasso

Association of a placental Interleukin-6 genetic variant (rs1800796) with DNA methylation, gene expression and risk of acute chorioamnionitis

Acute chorioamnionitis (aCA), inflammation of the placenta and fetal membranes, is a frequently reported lesion in preterm deliveries. Genetic variants in innate immune system genes such as Interleukin-6 (IL6) ma...

Authors: Chaini Konwar, Giulia F. Del Gobbo, Jefferson Terry and Wendy P. Robinson

Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report

Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and si...

Authors: Lingshuang Sheng, Wei Zhang, Jia Gu, Kefeng Shen, Hui Luo and Yang Yang