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  1. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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

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

  8. 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

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  9. 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

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  10. 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

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  11. X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease for which recurrent severe infection is the major clinical symptom. BTK is the main causative gene, with X chromosome recessive inheritance. H...

    Authors: Shanshan Gao, Shuang Hu, Huikun Duan, Li Wang and Xiangdong Kong

    Citation: BMC Medical Genetics 2020 21:131

    Content type: Research article

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  12. Colon adenocarcinoma (COAD) is the most common form of colon cancer. The glutathione S-transferase Mu (GSTM) gene belongs to the GST gene family, which functions in cell metabolism and detoxification. The relatio...

    Authors: Erna Guo, Haotang Wei, Xiwen Liao, Liuyu Wu and Xiaoyun Zeng

    Citation: BMC Medical Genetics 2020 21:130

    Content type: Research article

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  13. Vitamin D metabolism and obesity have been linked by several studies, however the reason for this association is unclear. Our objective was to investigate potential correlations between genetic variants in key...

    Authors: Bence Bakos, Balázs Szili, Boglárka Szabó, Péter Horváth, Gyöngyi Kirschner, János P. Kósa, Erzsébet Toldy, Péter Lakatos, Ádám G. Tabák and István Takács

    Citation: BMC Medical Genetics 2020 21:129

    Content type: Research article

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  14. Wilson disease (WD) is an Autosomal-Recessive disorder due to mutations of ATP7B gene on chromosome 13q14.3. Inadequate protein function leads to low ceruloplasmin blood levels and copper accumulation in liver, b...

    Authors: Annamaria Sapuppo, Piero Pavone, Andrea Domenico Praticò, Martino Ruggieri, Gaetano Bertino and Agata Fiumara

    Citation: BMC Medical Genetics 2020 21:128

    Content type: Case report

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  15. Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) cons...

    Authors: Akram Sarmadi, Samane Nasrniya, Maryam Soleimani Farsani, Sina Narrei, Zahra Nouri, Mahsa Sepehrnejad, Mohammad Hussein Nilforoush, Hamidreza Abtahi and Mohammad Amin Tabatabaiefar

    Citation: BMC Medical Genetics 2020 21:127

    Content type: Research article

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  16. Nakajo-Nishimura syndrome (NNS) is an autosomal recessive heredity disorder, one of a spectrum of autoinflammatory diseases named proteasome-associated autoinflammatory syndrome (PRAAS) caused by mutations of PSM...

    Authors: Tao Jia, Yi Zheng, Cheng Feng, Tielin Yang and Songmei Geng

    Citation: BMC Medical Genetics 2020 21:126

    Content type: Case report

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  17. Sickle cell disease (SCD) is a blood disorder caused by a point mutation on the beta globin gene resulting in the synthesis of abnormal hemoglobin. Fetal hemoglobin (HbF) reduces disease severity, but the leve...

    Authors: Siana Nkya, Liberata Mwita, Josephine Mgaya, Happiness Kumburu, Marco van Zwetselaar, Stephan Menzel, Gaston Kuzamunu Mazandu, Raphael Sangeda, Emile Chimusa and Julie Makani

    Citation: BMC Medical Genetics 2020 21:125

    Content type: Research article

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  18. The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The synd...

    Authors: Brigitte Glanzmann, Marlo Möller, Mardelle Schoeman, Michael Urban, Paul D. van Helden, Lisa Frigati, Ravnit Grewal, Hermanus Pieters, Ben Loos, Eileen G. Hoal, Richard H. Glashoff, Helena Cornelissen, Helena Rabie, Monika M. Esser and Craig J. Kinnear

    Citation: BMC Medical Genetics 2020 21:124

    Content type: Case report

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  19. Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder. Hereditary spastic paraplegia can be inherited in var...

    Authors: Weiwei Yu, Haiqiang Jin, Jianwen Deng, Ding Nan and Yining Huang

    Citation: BMC Medical Genetics 2020 21:123

    Content type: Research article

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  20. Otosclerosis (OTSC) is among the most common causes of a late-onset hearing loss in adults and is characterized by an abnormal bone growth in the otic capsule. Alteration in the osteoprotegerin (OPG) expressio...

    Authors: Amal Bouzid, Adel Tekari, Fida Jbeli, Amine Chakroun, Kirtal Hansdah, Amal Souissi, Neha Singh, Mohamed Ali Mosrati, Imen Achour, Abdelmonem Ghorbel, Ilhem Charfeddine, Puppala Venkat Ramchander and Saber Masmoudi

    Citation: BMC Medical Genetics 2020 21:122

    Content type: Research article

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  21. The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has...

    Authors: Bingxin Zhou, Lili Yu, Yan Wang, Wenjing Shang, Yi Xie, Xiong Wang and Fengchan Han

    Citation: BMC Medical Genetics 2020 21:121

    Content type: Research article

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  23. Spontaneous coronary artery dissection (SCAD) is frequently reported as a disorder that primarily affects women without risk factors for cardiovascular disease. Although it has been recognized as one of the ge...

    Authors: Bo Bai, Meng Zhang, Yihao Zhuang, Jirong Zhu, Wenjing Li, Wei Ma and Haibo Chen

    Citation: BMC Medical Genetics 2020 21:119

    Content type: Case report

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  24. Fanconi anemia (FA) is the most common inherited bone marrow failure (BMF) syndrome with 22 related genes identified. The ALDH2 rs671variant has been proved related to accelerate the progression of BMF in FA pati...

    Authors: Daijing Nie, Jing Zhang, Fang Wang, Wei Zhang, Lili Liu, Xue Chen, Yang Zhang, Panxiang Cao, Min Xiong, Tong Wang, Ping Wu, Xiaoli Ma, Wenjun Tian, Mangju Wang, Kylan N. Chen and Hongxing Liu

    Citation: BMC Medical Genetics 2020 21:118

    Content type: Research article

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  25. Spondyloepiphyseal dysplasia tarda (SEDT) is a rare X-linked recessive inherited osteochondrodysplasia caused by mutations in the TRAPPC2 gene. It is clinically characterized by disproportionate short stature and...

    Authors: Cai Zhang, Caiqi Du, Juan Ye, Feng Ye, Renfa Wang, Xiaoping Luo and Yan Liang

    Citation: BMC Medical Genetics 2020 21:117

    Content type: Research article

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  26. 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

    Published on:

  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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

    Published on:

  43. 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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  44. 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

    Published on:

  45. 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

    Published on:

  46. 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

    Published on:

  48. 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

    Published on:

  49. 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

    Published on:

  50. 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

    Published on:

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