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  1. Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency ...

    Authors: Ricardo M. Cerda-Flores, Karen Paola Camarillo-Cárdenas, Gabriela Gutiérrez-Orozco, Mónica Patricia Villarreal-Vela, Raquel Garza-Guajardo, Marco Antonio Ponce-Camacho, Ana Lilia Castruita-Ávila, Juan Francisco González-Guerrero, Iram Pablo Rodríguez-Sánchez, Ana Laura Calderón-Garcidueñas, Hazyadee Frecia Rodríguez-Gutierrez, Juan Carlos Arellano-Barrientos, Oscar Vidal Gutierrez, Hugo Alberto Barrera Saldaña and María Lourdes Garza-Rodríguez

    Citation: BMC Medical Genetics 2020 21:187

    Content type: Research article

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  2. Genetic eye diseases constitute a large and heterogeneous group of childhood ocular morbidity. Individual diseases may cause multiple structural anomalies and developmental features. Nepal Pediatric Ocular Dis...

    Authors: Srijana Adhikari, Neelam Thakur, Ujjowala Shrestha, Mohan K Shrestha, Murarai Manshrestha, Bijay Thapa, Manish Poudel and Ajaya Kunwar

    Citation: BMC Medical Genetics 2020 21:185

    Content type: Research article

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  3. Two important aspects for the development of anxiety disorders are genetic predisposition and alterations in the hypothalamic-pituitary-adrenal (HPA) axis. In order to identify genetic risk-factors for anxiety...

    Authors: Heléne Lindholm, India Morrison, Alexandra Krettek, Dan Malm, Giovanni Novembre and Linda Handlin

    Citation: BMC Medical Genetics 2020 21:184

    Content type: Research article

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  4. Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalon...

    Authors: Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu and Xu-Qin Chen

    Citation: BMC Medical Genetics 2020 21:183

    Content type: Case report

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  5. Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and sp...

    Authors: Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram and Arash Rafii

    Citation: BMC Medical Genetics 2020 21:182

    Content type: Case report

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  6. The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer’s disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic va...

    Authors: Xi-chen Zhu, Wen-zhuo Dai and Tao Ma

    Citation: BMC Medical Genetics 2020 21:181

    Content type: Research article

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  7. Cardiovascular diseases are still the major cause of death in the Western world, with different outcomes between the two genders. Efforts to identify those at risk are therefore given priority in the handling ...

    Authors: Urban Alehagen, Levar Shamoun and Dick Wågsäter

    Citation: BMC Medical Genetics 2020 21:179

    Content type: Research article

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  8. A Genetic risk score for coronary artery disease (CAD) improves the ability of predicting coronary heart disease (CHD). It is unclear whether i) the use of a CAD genetic risk score is superior to the measureme...

    Authors: Sonali Pechlivanis, Nils Lehmann, Per Hoffmann, Markus M. Nöthen, Karl-Heinz Jöckel, Raimund Erbel and Susanne Moebus

    Citation: BMC Medical Genetics 2020 21:178

    Content type: Research article

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  9. Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hea...

    Authors: Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo and Matteo Bertelli

    Citation: BMC Medical Genetics 2020 21:173

    Content type: Case report

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  10. Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. ...

    Authors: Ali Amar, Ayesha Afzal, Athar Hameed, Mumtaz Ahmad, Abdul Rafay Khan, Humaira Najma, Aiysha Abid and Shagufta Khaliq

    Citation: BMC Medical Genetics 2020 21:172

    Content type: Research article

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  11. The frequency of the alpha thalassemia trait is approximately 40% in the Kuwaiti population, but there has been no comprehensive study of the prevalent alleles. This is a report of patients who were referred f...

    Authors: Adekunle Adekile, Jalaja Sukumaran, Diana Thomas, Thomas D’Souza and Mohammad Haider

    Citation: BMC Medical Genetics 2020 21:170

    Content type: Research article

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  12. Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS i...

    Authors: Soraya Gholizad-kolveiri, Nakysa Hooman, Rasoul Alizadeh, Rozita Hoseini, Hasan Otukesh, Saeed Talebi and Mansoureh Akouchekian

    Citation: BMC Medical Genetics 2020 21:169

    Content type: Case report

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  13. Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS ...

    Authors: Talal J. Qazi, Qiao Wu, Ailikemu Aierken, Daru Lu, Ihtisham Bukhari, Hafiz M. J. Hussain, Jingmin Yang, Asif Mir and Hong Qing

    Citation: BMC Medical Genetics 2020 21:168

    Content type: Research article

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  14. Mutations in the exonuclease domain of POLE, a DNA polymerase associated with DNA replication and repair, lead to cancers with ultra-high mutation rates. Most studies focus on intestinal and uterine cancers wi...

    Authors: Fangjin Huang, Hisashi Tanaka, Beatrice S. Knudsen and Joanne K. Rutgers

    Citation: BMC Medical Genetics 2020 21:167

    Content type: Research article

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  15. Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes.

    Authors: Hai-rong Wang, Yan-qiu Liu, Xue-lian He, Jun Sun, Fan-wei Zeng, Cheng-bin Yan, Hao Li, Shu-yang Gao and Yun Yang

    Citation: BMC Medical Genetics 2020 21:166

    Content type: Case report

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  16. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects also known as CHILD syndrome is an X-linked dominant, male lethal genodermatosis with a prevalence of 1 in 100,000 live births. Mutatio...

    Authors: D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai and V. H. W. Dissanayake

    Citation: BMC Medical Genetics 2020 21:164

    Content type: Case report

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  17. Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver disease worldwide. Current studies have shown that PNPLA3 (Patatin-like phospholipase domain containing 3) rs738409 G/...

    Authors: Shan Tang, Jing Zhang, Ting Ting Mei, Hai Qing Guo, Xin Huan Wei, Wen Yan Zhang, Ya Li Liu, Shan Liang, Zuo Peng Fan, Li Xia Ma, Wei Lin, Yi Rong Liu, Li Xia Qiu and Hai Bin Yu

    Citation: BMC Medical Genetics 2020 21:163

    Content type: Research article

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  18. Leptin receptor gene (LEPR) variants may affect the leptin levels and act as a risk factor for preeclampsia. Two LEPR gene missense variants rs1137101 (c.668A>G) and rs1805094 (c.1968G>C) were investigated in Sud...

    Authors: Amira Saad, Ishag Adam, Salah Eldin G. Elzaki, Hiba A. Awooda and Hamdan Z. Hamdan

    Citation: BMC Medical Genetics 2020 21:162

    Content type: Research article

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  19. Pathogenic AXIN2 variants cause absence of permanent teeth (hypodontia), sparse hair and eye brows (ectodermal dysplasia), and gastrointestinal polyps and cancer. Inheritance is autosomal dominant with variable p...

    Authors: Sarah K. Macklin- Mantia, Stephanie L. Hines, Kaisorn L. Chaichana, Angela M. Donaldson, Stephen L. Ko, Qihui Zhai, Niloy Jewel Samadder and Douglas L. Riegert-Johnson

    Citation: BMC Medical Genetics 2020 21:161

    Content type: Case report

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  20. The CACNA1C gene was defined as a risk gene for schizophrenia in a large genome-wide association study of European ancestry performed by the Psychiatric Genomics Consortium. Previous meta-analyses focused on the ...

    Authors: Yong-ping Liu, Xue Wu, Xi Xia, Jun Yao and Bao-jie Wang

    Citation: BMC Medical Genetics 2020 21:159

    Content type: Research article

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  21. Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. Howev...

    Authors: Shanshan Xu, Qun Lian, Jinzhun Wu, Lingli Li and Jia Song

    Citation: BMC Medical Genetics 2020 21:158

    Content type: Case report

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  22. Heroin dependence is a complex disease with multiple phenotypes. Classification of heroin users into more homogeneous subgroups on the basis of these phenotypes could help to identify the involved genetic fact...

    Authors: Yunxiao Li, Yongsheng Zhu, Jianghua Lai, Xugang Shi, Yuanyuan Chen, Jinyu Zhang and Shuguang Wei

    Citation: BMC Medical Genetics 2020 21:157

    Content type: Research article

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  23. Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin ...

    Authors: Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu and Qingliu Fu

    Citation: BMC Medical Genetics 2020 21:155

    Content type: Case report

    Published on:

  24. MYH14 gene mutations have been suggested to be associated with nonsyndromic/syndromic sensorineural hearing loss. It has been reported that mutations in MYH14 can result in autosomal dominant nonsyndromic deafnes...

    Authors: Mingming Wang, Yicui Zhou, Fengguo Zhang, Zhaomin Fan, Xiaohui Bai and Haibo Wang

    Citation: BMC Medical Genetics 2020 21:154

    Content type: Research article

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  25. NAA10 is the catalytic subunit of the major N-terminal acetyltransferase complex NatA which acetylates almost half the human proteome. Over the past decade, many NAA10 missense variants have been reported as c...

    Authors: Ingrid Bader, Nina McTiernan, Christine Darbakk, Eugen Boltshauser, Rasmus Ree, Sabine Ebner, Johannes A. Mayr and Thomas Arnesen

    Citation: BMC Medical Genetics 2020 21:153

    Content type: Case report

    Published on:

  26. Intermediate filament proteins that construct the nuclear lamina of a cell include the Lamin A/C proteins encoded by the LMNA gene, and are implicated in fundamental processes such as nuclear structure, gene expr...

    Authors: Halida P. Widyastuti, Trina M. Norden-Krichmar, Anna Grosberg and Michael V. Zaragoza

    Citation: BMC Medical Genetics 2020 21:152

    Content type: Research article

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  27. Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50–60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 gene...

    Authors: Yingjie Zhou, Muhammad Tariq, Sijie He, Uzma Abdullah, Jianguo Zhang and Shahid Mahmood Baig

    Citation: BMC Medical Genetics 2020 21:151

    Content type: Research article

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  28. Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is an X-linked recessive disorder resulted from deleterious variants in the housekeeping gene Glucose-6-phosphate 1-dehydrogenase (G6PD), causing impaired res...

    Authors: Yongqing Tong, Bei Liu, Hongyun Zheng, Anyu Bao, Zegang Wu, Jian Gu, Bi-Hua Tan, Mary McGrath, Shriya Kane, Chunhua Song and Yan Li

    Citation: BMC Medical Genetics 2020 21:150

    Content type: Research article

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  29. Short-chain enoyl-CoA hydratase deficiency (ECHS1D), also known as ECHS1 deficiency, is a rare inborn metabolic disorder with clinical presentations characterized by Leigh syndrome (LS). Thirty-four different ...

    Authors: Dan Sun, Zhimei Liu, Yongchu Liu, Miaojuan Wu, Fang Fang, Xianbo Deng, Zhisheng Liu, Liang Song, Kei Murayama, Chunhua Zhang and Yuanyuan Zhu

    Citation: BMC Medical Genetics 2020 21:149

    Content type: Case report

    Published on:

  30. Gastric cancer is one of the four most common cancer that causing death worldwide. Genome-Wide Association Studies (GWAS) have shown that genetic diversities MUC1 (Mucin 1) and PSCA (Prostate Stem Cell Antigen) g...

    Authors: Reza Alikhani, Ali Taravati and Mohammad Bagher Hashemi-Soteh

    Citation: BMC Medical Genetics 2020 21:148

    Content type: Research article

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  31. Ankylosing spondylitis (AS) is considered as a subtype of spondyloarthritis (SpA) that mainly leads to fatigue, stiffness, spinal ankylosis, and impaired physical functions with reduced quality of life. Interl...

    Authors: Hamideh Aghaei, Elham Farhadi, Maryam Akhtari, Sara Shahba, Shayan Mostafaei, Ahmadreza Jamshidi, Shiva Poursani, Mahdi Mahmoudi and Mohammad Hossein Nicknam

    Citation: BMC Medical Genetics 2020 21:147

    Content type: Research article

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  32. Glaucoma is a polygenic neurodegenerative disease and the second most common cause of blindness in Saudi Arabia. To test the hypothesis that genetic variants in the genes involved in the bone morphogenic prote...

    Authors: Altaf A. Kondkar, Tahira Sultan, Taif A. Azad, Essam A. Osman, Faisal A. Almobarak and Saleh A. Al-Obeidan

    Citation: BMC Medical Genetics 2020 21:145

    Content type: Research article

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  33. Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in the PDE3A gene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Other...

    Authors: Xianqing Li, Zongzhe Li, Peng Chen, Yan Wang, Dao Wen Wang and Dao Wu Wang

    Citation: BMC Medical Genetics 2020 21:144

    Content type: Case report

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  34. Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting with low back pain or radicular pain. The inflammatory changes would occur in discs in the process of IVDD. Therefore,...

    Authors: Sara Hanaei, Sina Abdollahzade, Maryam Sadr, Mohammad Hossein Mirbolouk, Ehsan Fattahi, Alireza Khoshnevisan and Nima Rezaei

    Citation: BMC Medical Genetics 2020 21:143

    Content type: Research article

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  35. Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, including genetic factors, such as the PIN3 16-bp duplication polymorphism of TP53. The aim of our stud...

    Authors: Brehima Diakite, Yaya Kassogue, Guimogo Dolo, Oumar Kassogue, Mamadou Lassine Keita, Brian Joyce, Erin Neuschler, Jun Wang, Jonah Musa, Cheick Bougari Traore, Bakarou Kamate, Etienne Dembele, Sellama Nadifi, Mercy Isichei, Jane L. Holl, Robert Murphy…

    Citation: BMC Medical Genetics 2020 21:142

    Content type: Research article

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  36. Lynch syndrome (LS), which is known as a hereditary cancer syndrome, is distinguished by microsatellite instability, represented by the altered number of repetitive sequences in the coding and/or non-coding re...

    Authors: Shintaro Akabane, Takao Hinoi, Kiwamu Akagi, Hideki Yamamoto, Haruki Sada, Yosuke Shimizu, Wataru Shimizu, Takeshi Sudo, Takashi Onoe, Kohei Ishiyama, Takahisa Suzuki, Hirofumi Tazawa, Naoto Hadano, Toshihiro Misumi, Masato Kojima, Haruna Kubota…

    Citation: BMC Medical Genetics 2020 21:141

    Content type: Case report

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  37. Cohen syndrome, an autosomal recessive syndrome, is a rare syndrome with diverse clinical manifestations including failure to thrive, hypotonia, hypermobile joints, microcephaly, intellectual disabilities, cra...

    Authors: Sara Momtazmanesh, Elham Rayzan, Sepideh Shahkarami, Meino Rohlfs, Christoph Klein and Nima Rezaei

    Citation: BMC Medical Genetics 2020 21:140

    Content type: Case report

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  38. Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive ...

    Authors: Shengjie Sun, Huiyu Dong, Tao Yan, Junchen Li, Bianjiang Liu, Pengfei Shao, Jie Li and Chao Liang

    Citation: BMC Medical Genetics 2020 21:139

    Content type: Research article

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  39. Dihidropyrimidinase (DHP) deficiency is an inherited inborn error of pyrimidine metabolism with a variable clinical presentation and even asymptomatic subjects. Dihydropyrimidinase is encoded by the DPYS gene, th...

    Authors: Malihe Mirzaei, Arghavan Kavosi, Mahboobeh Sharifzadeh, Ghazale Mahjoub, Mohammad Ali Faghihi, Parham Habibzadeh and Majid Yavarian

    Citation: BMC Medical Genetics 2020 21:138

    Content type: Case report

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  40. Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA ...

    Authors: Sophie Greillier, Laurent Daniel, Catherine Caillaud, Bertrand Dussol, Guy Touchard, Jean-Michel Goujon, Noémie Jourde-Chiche and Mickaël Bobot

    Citation: BMC Medical Genetics 2020 21:137

    Content type: Case report

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  41. Alkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental del...

    Authors: Kishore Kumar, Anikha Bellad, Pramada Prasad, Satish Chandra Girimaji and Babylakshmi Muthusamy

    Citation: BMC Medical Genetics 2020 21:136

    Content type: Research article

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  42. Hispanic/Latino (HL) populations bear a disproportionately high burden of type 2 diabetes (T2D). The ability to predict T2D genetic risk using polygenic risk scores (PRS) offers great promise for improved scre...

    Authors: Aroon T. Chande, Lavanya Rishishwar, Andrew B. Conley, Augusto Valderrama-Aguirre, Miguel A. Medina-Rivas and I. King Jordan

    Citation: BMC Medical Genetics 2020 21(Suppl 2):132

    Content type: Research

    Published on:

    This article is part of a Supplement: Volume 21 Supplement 2

  43. NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnor...

    Authors: Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan and ZhongqinJin

    Citation: BMC Medical Genetics 2020 21:135

    Content type: Case report

    Published on:

  44. Liver cancer is one of the most common cancers in the world. The primary aim of this research was to discover the correlation between single nucleotide polymorphisms (SNPs) of the MIR155HG and liver cancer risk.

    Authors: Xu Chao, Xuesong Feng, Xiaoping Wang, Hailong Shi, Hong Li, Yuewen Wang, Lanlan Wang, Haiyu Shen, Qing Zha and Yanni Chen

    Citation: BMC Medical Genetics 2020 21:134

    Content type: Research article

    Published on:

  45. Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e...

    Authors: Yingjie Sun, Xiangdong Kong, Zhenhua Zhao and Xuechao Zhao

    Citation: BMC Medical Genetics 2020 21:133

    Content type: Research article

    Published on:

2019 Journal Metrics

Announcement

As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.