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  1. Pheochromocytoma/paraganglioma (PPGL) is a rare neuroendocrine tumor. Succinate dehydrogenase (SDH) deficiency has been confirmed to be associated with PPGL in various studies. SDHB mutations play an important...

    Authors: Heye Chen, Wei Yao, Qing He, Xuefang Yu and Bo Bian

    Citation: BMC Medical Genetics 2020 21:116

    Content type: Case report

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  2. Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant M...

    Authors: Jiashen Shao, Sen Zhao, Zihui Yan, Lianlei Wang, Yuanqiang Zhang, Mao Lin, Chenxi Yu, Shengru Wang, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Jianguo Zhang, Zhihong Wu and Nan Wu

    Citation: BMC Medical Genetics 2020 21:115

    Content type: Research article

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  3. The pathogenesis of dental caries remains unclear, with increasing evidence suggesting that genetic susceptibility plays an essential role. Previous studies have reported the association between genetic polymo...

    Authors: Xueyan Li, Yi Su, Di Liu and Jingyun Yang

    Citation: BMC Medical Genetics 2020 21:114

    Content type: Research article

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  4. Maternal cytomegalovirus (CMV) infection and/or reactivation in pregnancy is associated with a myriad of adverse infant outcomes. However, the role of host genetic polymorphisms in modulating maternal CMV stat...

    Authors: Doreen Z. Mhandire, Kudakwashe Mhandire, Mulalo Magadze, Ambroise Wonkam, Andre P. Kengne and Collet Dandara

    Citation: BMC Medical Genetics 2020 21:113

    Content type: Research article

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  5. We have recently developed a highly accurate urine-based test, named Urodiag®, associating FGFR3 mutation and DNA methylation assays for recurrence surveillance in patients with low-, intermediate-, and high-risk...

    Authors: Jean-Pierre Roperch and Claude Hennion

    Citation: BMC Medical Genetics 2020 21:112

    Content type: Technical advance

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  6. Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accu...

    Authors: L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia, S Ferchichi, N Tebib and S Laradi

    Citation: BMC Medical Genetics 2020 21:111

    Content type: Research article

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  7. Black women in the United States and Africa are at an increased risk for preeclampsia. Allelic variants in the gene for apolipoprotein LI, APOL1, are found only in populations of African ancestry, and have been s...

    Authors: Anna K. Miller, Timur Azhibekov, John F. O’Toole, John R. Sedor, Scott M. Williams, Raymond W. Redline and Leslie A. Bruggeman

    Citation: BMC Medical Genetics 2020 21:110

    Content type: Research article

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  8. Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different gen...

    Authors: Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, Hélène Cao-van, Nils Guinand and Ariane Paoloni-Giacobino

    Citation: BMC Medical Genetics 2020 21:109

    Content type: Case report

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  9. Beta (β)-thalassemia is one of the most common inherited disorders worldwide, with high prevalence in the Mediterranean, the Middle East and South Asia. Over the past 40 years, awareness and prevention campaig...

    Authors: Ghazala Hashmi, Asim Qidwai, Kristopher Fernandez and Michael Seul

    Citation: BMC Medical Genetics 2020 21:108

    Content type: Research article

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  10. Nuclear genome or family mitochondrial screening system has become the hot focus of studies into essential hypertension. The role of mitochondrial DNA (mtDNA) in sporadic Chinese patients with hypertension has...

    Authors: Ye Zhu, Jia You, Chao Xu and Xiang Gu

    Citation: BMC Medical Genetics 2020 21:105

    Content type: Research article

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  11. Cutaneous leishmaniasis (CL) is well linked with immunogenetic factors. This study was undertaken to test the association of TNF-α − 308 and IFN-γ + 874 gene polymorphisms with the susceptibility of Leishmania (L...

    Authors: Ahmed A. Ahmed, Zafar Rasheed, Tarek Salem, Mohammed S. Al-Dhubaibi, Ahmad A. Al Robaee and Abdullateef A. Alzolibani

    Citation: BMC Medical Genetics 2020 21:104

    Content type: Research article

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  12. To date, the fundamental pathophysiology underlying the occurrence and progression of psoriasis are still unanswered questions. Genome-wide association surveys have revealed that TNFAIP3 and TNIP1 were key bio...

    Authors: Hai-bo Gong, Shu-tao Gao, Xiong-ming Pu, Xiao-jing Kang and Xiu-juan Wu

    Citation: BMC Medical Genetics 2020 21:103

    Content type: Research article

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  13. Syndrome of synovitis acne pustulosis hyperostosis osteitis (SAPHO) and chronic recurrent multifocal osteomyelitis (CRMO) present two diseases of a dermatologic and rheumatologic spectrum that are variable in ...

    Authors: Gunter Assmann, Michaela Köhm, Volker Schuster, Frank Behrens, Rotraut Mössner, Nina Magnolo, Vinzenz Oji, Harald Burkhardt and Ulrike Hüffmeier

    Citation: BMC Medical Genetics 2020 21:102

    Content type: Research article

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  14. Desmoplastic small round cell tumor (DSRCT) is a rare, highly aggressive, translocation-associated soft-tissue sarcoma that primarily affects children, adolescents, and young adults, with a striking male predo...

    Authors: Warren A. Chow, Jiing-Kuan Yee, Walter Tsark, Xiwei Wu, Hanjun Qin, Min Guan, Jeffrey S. Ross, Siraj M. Ali and Sherri Z. Millis

    Citation: BMC Medical Genetics 2020 21:101

    Content type: Research article

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  15. Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases characterized by progressive intellectual and moto...

    Authors: Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang and Yiping Shen

    Citation: BMC Medical Genetics 2020 21:100

    Content type: Case report

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  16. To date, at least 746 genes have been identified to cause intellectual disability (ID). Among them, mutations in the Methyl CpG binding protein 2 (MECP2) gene are the leading cause of Rett syndrome and associated...

    Authors: Yi Gu, Bingwu Xiang, Lina Zhu, Xiuwei Ma, Xiang Chen and Tao Cai

    Citation: BMC Medical Genetics 2020 21:99

    Content type: Research article

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  17. Glutaric acidemia type II (GA II) or multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to m...

    Authors: Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu and Wenjun Wang

    Citation: BMC Medical Genetics 2020 21:98

    Content type: Case report

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  18. Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and ...

    Authors: Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, Hina Bashir, Niamat Khan, Noor Muhammad, Rüstem Yilmaz, Saadullah Khan and Naveed Wasif

    Citation: BMC Medical Genetics 2020 21:97

    Content type: Research article

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  19. Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing f...

    Authors: Dulika Sumathipala, Petter Strømme, Christian Gilissen, Ingunn Holm Einarsen, Hilde J. Bjørndalen, Andrés Server, Jordi Corominas, Bjørnar Hassel, Madeleine Fannemel, Doriana Misceo and Eirik Frengen

    Citation: BMC Medical Genetics 2020 21:96

    Content type: Case report

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  20. Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase.

    Authors: L. Ordieres-Ortega, F. Galeano-Valle, M. Mallén-Pérez, C. Muñoz-Delgado, J. E. Apaza-Chavez, F. J. Menárguez-Palanca, L. A. Alvarez-Sala Walther and P. Demelo-Rodríguez

    Citation: BMC Medical Genetics 2020 21:94

    Content type: Case report

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  21. Pathogenic SLC6A1 variants have been reported in patients with myoclonic-atonic epilepsy (MAE). NOTCH1, encoding a member of the Notch family of proteins, is known to be associated with aortic valve disease. The

    Authors: Haiming Yuan, Qingming Wang, Yufeng Li, Shuangxi Cheng, Jianxin Liu and Yanhui Liu

    Citation: BMC Medical Genetics 2020 21:93

    Content type: Case report

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  22. Pediatric high-grade gliomas (pHGGs) are incurable malignant brain cancers. Clear somatic genetic drivers are difficult to identify in the majority of cases. We hypothesized that this may be due to the existen...

    Authors: Anna Bobyn, Mehdi Zarrei, Yuankun Zhu, Mary Hoffman, Darren Brenner, Adam C. Resnick, Stephen W. Scherer and Marco Gallo

    Citation: BMC Medical Genetics 2020 21:92

    Content type: Research article

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  23. Renal hypouricemia (RHUC) is a hereditary disorder where mutations in SLC22A12 gene and SLC2A9 gene cause RHUC type 1 (RHUC1) and RHUC type 2 (RHUC2), respectively. These genes regulate renal tubular reabsorption...

    Authors: Motohiro Sekiya, Takaaki Matsuda, Yuki Yamamoto, Yasuhisa Furuta, Mariko Ohyama, Yuki Murayama, Yoko Sugano, Yoshinori Ohsaki, Hitoshi Iwasaki, Naoya Yahagi, Shigeru Yatoh, Hiroaki Suzuki and Hitoshi Shimano

    Citation: BMC Medical Genetics 2020 21:91

    Content type: Case report

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  24. ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathoge...

    Authors: Izabella Körberg, Daniel Nowinski, Marie-Louise Bondeson, Malin Melin, Lars Kölby and Eva-Lena Stattin

    Citation: BMC Medical Genetics 2020 21:90

    Content type: Case report

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  25. The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population.

    Authors: Sandrine Chamayou, Maria Sicali, Debora Lombardo, Elena Maglia, Annalisa Liprino, Clementina Cardea, Michele Fichera, Ermanno Venti and Antonino Guglielmino

    Citation: BMC Medical Genetics 2020 21:89

    Content type: Research article

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  26. Interleukin (IL) 28B polymorphisms encoding pro-inflammatory and anti-inflammatory cytokines trigger diverse clinical outcome of hepatitis virus infection. However, there is controversy concerning the association...

    Authors: Jingyu Zhao, Xinyue Zhang, Liwei Fang, Hong Pan and Jun Shi

    Citation: BMC Medical Genetics 2020 21:88

    Content type: Research article

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  27. Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the ci...

    Authors: Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere and Isabel Tapia-Páez

    Citation: BMC Medical Genetics 2020 21:87

    Content type: Case report

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  28. Vascular endothelial growth factor (VEGF) gene is highly polymorphic, and single nucleotide polymorphisms (SNP) of VEGF gene are associate with cancer prognosis. This study aimed to analyze the correlation of ...

    Authors: Changjiang Liu, Xuetao Zhou, Zefeng Zhang and Yang Guo

    Citation: BMC Medical Genetics 2020 21:86

    Content type: Research article

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  29. Previous studies found that Ser9Gly (rs6280) might be involved in the occurrence of schizophrenia. However, no consist conclusion has yet been achieved. Compared to the case-control study, the family-based stu...

    Authors: Xiao-na Li, Ji-long Zheng, Xiao-han Wei, Bao-jie Wang and Jun Yao

    Citation: BMC Medical Genetics 2020 21:85

    Content type: Research article

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  30. Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life...

    Authors: Feng Chen, Limeng Dai, Jun Zhang, Furong Li, Jinbo Cheng, Jinghong Zhao and Bo Zhang

    Citation: BMC Medical Genetics 2020 21:84

    Content type: Case report

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  31. The role of angiotensin II type 1 receptor (AT1R) as a key player in type 2 diabetes mellitus (T2DM) complicated with hypertension remains controversial. The present case-control study systematically investigated...

    Authors: Lina Hou, Xiaohong Quan, Xian Li and Xiulan Su

    Citation: BMC Medical Genetics 2020 21:83

    Content type: Research article

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  32. Investigations in genetics have provided valuable information about the correlation between gene variants and tendinopathy. Single Nucleotide Polymorphisms of COL5A1 gene are reported to be involved in Achille...

    Authors: Stefano Petrillo, Umile Giuseppe Longo, Katia Margiotti, Vincenzo Candela, Caterina Fusilli, Giacomo Rizzello, Alessandro De Luca and Vincenzo Denaro

    Citation: BMC Medical Genetics 2020 21:82

    Content type: Research article

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  33. Prostate cancer is one of the five common cancers and has the second incidence rate and the third mortality rate in Iranian population. The purpose of this study was to evaluate the association of rs16901979, ...

    Authors: Behnaz Beikzadeh, Seyed Abdolhamid Angaji and Maryam Abolhasani

    Citation: BMC Medical Genetics 2020 21:81

    Content type: Research article

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  34. Pierson syndrome (PS) is a rare autosomal recessive disorder, characterized by congenital nephrotic syndrome and microcoria. Advances in renal replacement therapies have extended the lifespan of patients, wher...

    Authors: Kei Nishiyama, Mari Kurokawa, Michiko Torio, Yasunari Sakai, Mitsuru Arima, Shoko Tsukamoto, Satoshi Obata, Shogo Minamikawa, Kandai Nozu, Noriyuki Kaku, Yoshihiko Maehara, Koh-Hei Sonoda, Tomoaki Taguchi and Shouichi Ohga

    Citation: BMC Medical Genetics 2020 21:80

    Content type: Case report

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  35. Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene. Without salt substitution, this chr...

    Authors: Eva Lindberg, Claes Moller, Juha Kere, Satu Wedenoja and Agneta Anderzén-Carlsson

    Citation: BMC Medical Genetics 2020 21:79

    Content type: Case report

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  36. The protein Kruppel-like factor 13 (KLF13) is a member of the KLF family and has been identified as a cardiac transcription factor that is involved in heart development. However, the relationship between KLF13...

    Authors: Wenjuan Li, Baolei Li, Tingting Li, Ergeng Zhang, Qingjie Wang, Sun Chen and Kun Sun

    Citation: BMC Medical Genetics 2020 21:78

    Content type: Research article

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  37. Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1. Next Generatio...

    Authors: Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni and Sirous Zeinali

    Citation: BMC Medical Genetics 2020 21:77

    Content type: Case report

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  38. Despite recent findings that epithelial cell adhesion molecule (EPCAM) deletions can cause Lynch syndrome (LS), its clinical characteristics are still unknown. We present the first case of ileum cancer in a patie...

    Authors: Narushi Iwata, Ayumi Shikama, Wataru Takao, Yoshihiko Hosokawa, Hiroya Itagaki, Nobutaka Tasaka, Azusa Akiyama, Hiroyuki Ochi, Takeo Minaguchi, Miwa Arita, Emiko Noguchi, Toshikazu Moriwaki and Toyomi Satoh

    Citation: BMC Medical Genetics 2020 21:76

    Content type: Case report

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  39. β Thalassemia is one of the most common groups of hereditary haemoglobinopathies. Affected people with thalassemia major are dependent on regular blood transfusion which on the long term leads to iron overload...

    Authors: Parinaz Zarghamian, Azita Azarkeivan, Ali Arabkhazaeli, Ahmad Mardani and Majid Shahabi

    Citation: BMC Medical Genetics 2020 21:75

    Content type: Research article

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  40. PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is main...

    Authors: Xiaomei Luo, Jiacheng Hu, Xueren Gao, Yanjie Fan, Yu Sun, Xuefan Gu and Wenjuan Qiu

    Citation: BMC Medical Genetics 2020 21:74

    Content type: Case report

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  41. Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000–3000) autosomal-dominant disorder with high risk of venous thromboembolis...

    Authors: Margarita E. Polyak and Elena V. Zaklyazminskaya

    Citation: BMC Medical Genetics 2020 21:73

    Content type: Case report

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  42. Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either o...

    Authors: Qi Yang, Hong Xu, Jingsi Luo, Mengting Li, Sheng Yi, Qinle Zhang, Guoxing Geng, Shihan Feng and Xin Fan

    Citation: BMC Medical Genetics 2020 21:72

    Content type: Case report

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  43. The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in ...

    Authors: Mei Daoqi, Chen Guohong, Wang Yuan, Yang Zhixiao, Xu Kaili and Mei Shiyue

    Citation: BMC Medical Genetics 2020 21:69

    Content type: Case report

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  44. The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal ...

    Authors: Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige and Hideshi Kawakami

    Citation: BMC Medical Genetics 2020 21:68

    Content type: Case report

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  45. Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients ar...

    Authors: Rui Yang, Qingtao Kong, Yuanyuan Duan, Weiwei Li and Hong Sang

    Citation: BMC Medical Genetics 2020 21:67

    Content type: Case report

    Published on: