Articles

A non-synonymous variant rs12614 of complement factor B associated with risk of chronic hepatitis B in a Korean population

Hepatitis B is known to cause several forms of liver diseases including chronic hepatitis B (CHB), and hepatocellular carcinoma. Previous genome-wide association study of CHB risk has demonstrated that rs12614 of...

Authors: Jung Yeon Seo, Joong-Gon Shin, Byeong Ju Youn, Suhg Namgoong, Hyun Sub Cheong, Lyoung Hyo Kim, Ji On Kim, Hyoung Doo Shin and Yoon Jun Kim

Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis

In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive d...

Authors: Mouna Ouhenach, Abdelali Zrhidri, Imane Cherkaoui Jaouad, Wiam Smaili and Abdelaziz Sefiani

DGAT1 mutations leading to delayed chronic diarrhoea: a case report

Early-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol o-acyltransferase 1 (DGAT1) has recently been linked to early-onset chronic diarrhoea. To date, only a few cases of

Authors: Luojia Xu, Weizhong Gu, Youyou Luo, Jingan Lou and Jie Chen

Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation

Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug res...

Authors: Mariam Goubran, Ayodeji Aderibigbe, Emmanuel Jacquemin, Catherine Guettier, Safwat Girgis, Vincent Bain and Andrew L. Mason

Two novel mutations in the DNAH11 gene in primary ciliary dyskinesia (CILD7) with considerable variety in the clinical and beating cilia phenotype

Diagnosis of primary ciliary dyskinesia (PCD) still remains a challenge, especially with mutations in the Dynein Arm Heavy Chain 11 (DNAH11) gene. Classical diagnostic measures like Transmission Electron Microsco...

Authors: Rüdiger Schultz, Varpu Elenius, Heikki Lukkarinen and Tanja Saarela

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report

Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that ...

Authors: Nicole Weisschuh, Pascale Mazzola, Tilman Heinrich, Tobias Haack, Bernd Wissinger, Felix Tonagel and Carina Kelbsch

First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient

Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include ...

Authors: Ciliu Zhang, Xiaolu Deng, Yafei Wen, Fang He, Fei Yin and Jing Peng

Mice lacking global Stap1 expression do not manifest hypercholesterolemia

Autosomal dominant familial hypercholesterolemia (ADH; MIM#143890) is one of the most common monogenic disorders characterized by elevated circulatory LDL cholesterol. Initial studies in humans with ADH identi...

Authors: Babunageswararao Kanuri, Vincent Fong, April Haller, David Y. Hui and Shailendra B. Patel

Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre

Despite the progress in the knowledge of Huntington disease (HD) in recent years, the epidemiology continues uncertain, so the study of incidence becomes relevant. This is important since various factors (type...

Authors: Paula Sienes Bailo, Raquel Lahoz, Juan Pelegrín Sánchez Marín and Silvia Izquierdo Álvarez

Interleukin-4 gene polymorphism (C33T) and the risk of the asthma: a meta-analysis based on 24 publications

Previous studies evaluated the association of IL-4 C33T polymorphism and risk of bronchial asthma but failed to establish a consistent conclusive association. In the present meta-analysis, we intend to define ...

Authors: Danyal Imani, Mohammad Masoud Eslami, Gholamreza Anani-Sarab, Mansur Aliyu, Bahman Razi and Ramazan Rezaei

Genome-wide association study of prevalent and persistent cervical high-risk human papillomavirus (HPV) infection

Genetic factors may influence the susceptibility to high-risk (hr) human papillomavirus (HPV) infection and persistence. We conducted the first genome-wide association study (GWAS) to identify variants associa...

Authors: Sally N. Adebamowo, Adebowale A. Adeyemo, Charles N. Rotimi, Olayinka Olaniyan, Richard Offiong and Clement A. Adebamowo

Next generation sequencing of RB1gene for the molecular diagnosis of ethnic minority with retinoblastoma in Yunnan

Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~ 8000 children worldwide are diagnosed for retinoblastoma. In high-income count...

Authors: Zhen Zhang, Yi-shuang Xiao, Ru Shen, Hong-chao Jiang, Li Tan, Ren-qiu Li, Xiao-hong Yang, Huai-yu Gu, Wen-Ji He and Jing Ma

Overwhelming sepsis in a neonate affected by Zellweger syndrome due to a compound heterozygosis in PEX 6 gene: a case report

Peroxisome biogenesis disorders (PBDs) are a group of metabolic diseases caused by dysfunction of peroxisomes. Different forms of PBDs are described; the most severe one is the Zellweger syndrome (ZS). We repo...

Authors: Laura Lucaccioni, Beatrice Righi, Greta Miriam Cingolani, Licia Lugli, Elisa Della Casa, Francesco Torcetta, Lorenzo Iughetti and Alberto Berardi

Mediation by differential DNA methylation of known associations between single nucleotide polymorphisms and bladder cancer risk

Though bladder cancer has been the subject of many well-powered genome-wide association studies, the mechanisms involving bladder-cancer-associated single nucleotide polymorphisms (SNPs) remain largely unknown...

Authors: Kristina M. Jordahl, Amanda I. Phipps, Timothy W. Randolph, Lesley F. Tinker, Rami Nassir, Lifang Hou, Garnet L. Anderson, Karl T. Kelsey, Emily White and Parveen Bhatti

Characterization of an N-terminal Na_v1.5 channel variant – a potential risk factor for arrhythmias and sudden death?

Alterations in the SCN5A gene encoding the cardiac sodium channel Na_v1.5 have been linked to a number of arrhythmia syndromes and diseases including long-QT syndrome (LQTS), Brugada syndrome (BrS) and dilative ca...

Authors: Stefanie Scheiper-Welling, Paolo Zuccolini, Oliver Rauh, Britt-Maria Beckmann, Christof Geisen, Anna Moroni, Gerhard Thiel and Silke Kauferstein

Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees

Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative ...

Authors: Somayeh Khatami, Masomeh Askari, Fatemeh Bahreini, Morteza Hashemzadeh-Chaleshtori, Saeed Hematian and Samira Asgharzade

Wilson disease, ABCC2 c.3972C > T polymorphism and primary liver cancers: suggestions from a familial cluster

Polymorphisms in genes modulating xenobiotics metabolism, in particular the ABCC2 c.3972C > T single nucleotide polymorphism (SNP) at exon 28, have been suggested to increase primary liver cancer (PLC) risk. C...

Authors: Giovanni Brandi, Alessandro Rizzo, Marzia Deserti, Valeria Relli, Valentina Indio, Sofia Bin, Milena Pariali, Andrea Palloni, Stefania De Lorenzo, Francesco Tovoli and Simona Tavolari

Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review

Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usua...

Authors: Xin Li, Ying Li, Min Lei, Jing Tian, Zuocheng Yang, Shoujin Kuang, Yanjuan Tan and Tao Bo

Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report

Hereditary spherocytosis (HS) is the most common haemolytic anaemia caused by congenital membrane defects of red blood cells. The name derives from the presence of spherical red blood cells in the peripheral b...

Authors: Senmao Chai, Rong Jiao, Xiaodong Sun, Pan Fu, Qiang Zhao and Ming Sang

Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report

Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient c...

Authors: Yan Wang, Yuhan Chen, San Mei Wang, Xin Liu, Ya Nan Gu and Zhichun Feng

Hereditary intrinsic factor deficiency in China caused by a novel mutation in the intrinsic factor gene—a case report

Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations. Patients usually prese...

Authors: Jing Ruan, Bing Han, Junling Zhuang, Miao Chen, Fangfei Chen, Yuzhou Huang and Wenzhe Zhou

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinic...

Authors: Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto and Carlo Foresta

Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report

Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenoty...

Authors: Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee and Brendan Lanpher

The role of UGT1A1 (c.-3279 T > G) gene polymorphisms in neonatal hyperbilirubinemia susceptibility

Neonatal hyperbilirubinemia (NNH) is a common disease in newborns. This research study aimed to assess the associations between uridine diphospho-glucuronate-glucuronosyltransferase 1A1 (UGT1A1, c.-3279 T > G)...

Authors: Zijin Li, Li Song and Lihong Hao

Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report

Mitochondrial encephalomyopathy caused by bi-allelic deleterious variants in TARS2 is rare. To date, only two pedigrees were reported in the literature and the connection between the gene and disease needs furthe...

Authors: Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian and Wen-Xiong Chen

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study

To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).

Authors: Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral and Ishwar C. Verma

A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant ...

Authors: Liying Sun, Qianwen Zhang, Qun Li, Yijun Tang, Yirou Wang, Xin Li, Niu Li, Jian Wang and Xiumin Wang

The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and...

Authors: Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing and Weibo Xia

Novel variants of ABCA4 in Han Chinese families with Stargardt disease

Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1. The current...

Authors: Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang and Ji-Hong Wu

Genetic polymorphisms of PGF and TNFAIP2 genes related to cervical cancer risk among Uygur females from China

PGF and TNFAIP2 are important angiogenic factors, which were abnormal expression in cervical cancer (CC). However, there is currently no report investigating the relationship of PGF and TNFAIP2 gene polymorphisms...

Authors: Zumurelaiti Ainiwaer, Reyilanmu Maisaidi, Jing Liu, Lili Han, Sulaiya Husaiyin, Jing Lu and Mayinuer Niyazi

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction. Myotonia congenita can be inherited in a dominant (Thomsen dise...

Authors: Peter Sparber, Margarita Sharova, Alexandra Filatova, Olga Shchagina, Evgeniya Ivanova, Elena Dadali and Mikhail Skoblov

Medical genetics studies at the SBB-2019 and MGNGS-2019 conferences

Authors: Ancha V. Baranova, Elena Yu. Leberfarb, Georgy S. Lebedev and Yuriy L. Orlov

Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas

Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far.

Authors: Xianping Meng, Hongyan Lu, Xia Jiang, Bin Huang, Song Wu, Guiping Yu and Hongbao Cao

Deep vein thrombosis inhibitor may play a therapeutic role in post-stroke patients

Deep vein thrombosis (DVT) is associated with stroke. Here, we hypothesize that genes associated with DVT may also play roles in the development of stroke.

Authors: Xixi Xiang, Di Yuan, Peiyan Kong, Ting Chen, Han Yao, Shijia Lin, Xi Zhang and Hongbao Cao

Genetic polymorphisms of PIP5K2A and course of schizophrenia

Schizophrenia is a severe highly heritable mental disorder. The clinical heterogeneity of schizophrenia is expressed in the difference in the leading symptoms and course of the disease. Identifying the genetic...

Authors: Evgeniya G. Poltavskaya, Olga Yu. Fedorenko, Natalya M. Vyalova, Elena G. Kornetova, Nikolay A. Bokhan, Anton J. M. Loonen and Svetlana A. Ivanova

Unannotated single nucleotide polymorphisms in the TATA box of erythropoiesis genes show in vitro positive involvements in cognitive and mental disorders

Hemoglobin is a tetramer consisting of two α-chains and two β-chains of globin. Hereditary aberrations in the synthesis of one of the globin chains are at the root of thalassemia, one of the most prevalent mon...

Authors: Mikhail Ponomarenko, Ekaterina Sharypova, Irina Drachkova, Irina Chadaeva, Olga Arkova, Olga Podkolodnaya, Petr Ponomarenko, Nikolay Kolchanov and Ludmila Savinkova

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal or monogenic). Thus, a diagno...

Authors: Andrey V. Marakhonov, Irina A. Mishina, Vitaly V. Kadyshev, Svetlana A. Repina, Maria F. Shurygina, Olga A. Shchagina, Natalya N. Vasserman, Tatyana A. Vasilyeva, Sergey I. Kutsev and Rena A. Zinchenko

A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report

Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1–0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this s...

Authors: Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao and Yuan Gao

The association between genetic polymorphisms in ABCG2 and SLC2A9 and urate: an updated systematic review and meta-analysis

Replication studies showed conflicting effects of ABCG2 and SLC2A9 polymorphisms on gout and serum urate. This meta-analysis therefore aimed to pool their effects across studies.

Authors: Thitiya Lukkunaprasit, Sasivimol Rattanasiri, Saowalak Turongkaravee, Naravut Suvannang, Atiporn Ingsathit, John Attia and Ammarin Thakkinstian

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritanc...

Authors: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova and Valery Vladimirovich Ilinsky

Development of an immunogenomic landscape for the competing endogenous RNAs network of peri-implantitis

Peri-implantitis is an inflammation that occurs around the implant, resulting in varying degrees of inflammatory damage to the soft and hard tissues. The characteristic criterion is the loss of the supporting ...

Authors: Yang Li, Jina Zheng, Chanjuan Gong, Kengfu Lan, Yuqing Shen and Xiaojun Ding

Investigation of INDEL variants in apoptosis: the relevance to gastric cancer

Apoptosis is a type of cell death involved in different pathways inherent to the cell and the evasion from this mechanism has been related to cancer, although this process remains not very well comprehended. G...

Authors: Giovanna Chaves Cavalcante, Milene Raiol de Moraes, Cristina Maria Duarte Valente, Caio Santos Silva, Antônio André Conde Modesto, Paula Baraúna de Assumpção, Paulo Pimentel de Assumpção, Sidney Santos and Ândrea Ribeiro-dos-Santos

p.Arg72Pro polymorphism of P53 and breast cancer risk: a meta-analysis of case-control studies

The effect of the p.Arg72Pro variant of the P53 gene on the risk of development ofbreast cancer remains variable in populations. However, the use ofstrategies such aspoolingage-matched controls with disease may p...

Authors: Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Jun Wang, Erin Neuschler, Oumar Kassogue, Mamadou L Keita, Cheick B Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Robert L Murphy, Seydou Doumbia, Lifang Hou and Mamoudou Maiga

Effect of DNMT3A polymorphisms on CpG island hypermethylation in gastric mucosa

CpG methylation of tumor suppressor genes occurs in the early stage of carcinogenesis. Detecting risk factors for aberrant CpG methylation is clinically important for predicting cancer development. DNA methylt...

Authors: Hikaru Takano, Tomoyuki Shibata, Masakatsu Nakamura, Naoko Sakurai, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Otsuka, Tomomitsu Tahara and Tomiyasu Arisawa

Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn’s disease subjects

Genetic analyses have identified many variants associated with the risk of inflammatory bowel disease (IBD) development. Among these variants, the ones located within the NOD2 gene have the highest odds ratio of ...

Authors: Williams Turpin, Larbi Bedrani, Osvaldo Espin-Garcia, Wei Xu, Mark S. Silverberg, Michelle I. Smith, Juan Antonio Raygoza Garay, Sun-Ho Lee, David S. Guttman, Anne Griffiths, Paul Moayyedi, Remo Panaccione, Hien Huynh, Hillary A. Steinhart, Guy Aumais, Levinus A. Dieleman…

Genotype-phenotype correlation of HbH disease in northern Iraq

HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations. Characterization of the mutations and the underlying genoty...

Authors: Rawand P. Shamoon, Ahmed K. Yassin, Ranan K. Polus and Mohamad D. Ali

KANK1-NTRK3 fusions define a subset of BRAF mutation negative renal metanephric adenomas

Metanephric adenoma (MA) is a rare benign renal neoplasm. On occasion, MA can be difficult to differentiate from renal malignancies such as papillary renal cell carcinoma in adults and Wilms̕ tumor in children...

Authors: Aida Catic, Amina Kurtovic-Kozaric, Ardis Sophian, Lech Mazur, Faruk Skenderi, Ondrej Hes, Stephen Rohan, Dinesh Rakheja, Jillene Kogan and Michael R. Pins

Influence of MIF polymorphisms on CpG island hyper-methylation of CDKN2A in the patients with ulcerative colitis

CDKN2A hypermethylation is among the major events associated with carcinogenesis and is also observed in non-neoplastic colonic mucosa in patients with ulcerative colitis (UC). Macrophage migration inhibitory fac...

Authors: Naoko Sakurai, Tomoyuki Shibata, Masakatsu Nakamura, Hikaru Takano, Tasuku Hayashi, Masafumi Ota, Tomoe Nomura-Horita, Ranji Hayashi, Takeo Shimasaki, Toshimi Ostuka, Tomomitsu Tahara and Tomiyasu Arisawa

Pathogenic NF1 truncating mutation and copy number alterations in a dedifferentiated liposarcoma with multiple lung metastasis: a case report

Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15–20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents. Howe...

Authors: Yoon-Seob Kim, Sun Shin, Seung-Hyun Jung and Yeun-Jun Chung

Frequency of thrombophilia associated genes variants: population-based study

Thrombophilia is a hypercoagulable state that may have a genetic basis (inherited) or can be acquired. It is a multifactorial condition and only the mutual interactions between the environment and genes may le...

Authors: Natalia Wawrusiewicz-Kurylonek, Adam Jacek Krętowski and Renata Posmyk