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  1. 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
    Citation: BMC Medical Genetics 2019 20:44
    Content type: Research article Published on:

  2. DMBT1 is a gene that shows extensive copy number variation (CNV) that alters the number of bacteria-binding domains in the protein and has been shown to activate the complement pathway...

    Authors: Shamik Polley, Valentina Cipriani, Jane C. Khan, Humma Shahid, Anthony T. Moore, John R. W. Yates and Edward J. Hollox
    Citation: BMC Medical Genetics 2016 17:44
    Content type: Research article Published on:

  3. The purpose of the study was to investigate the effects of the pregnane X receptor (PXR)*1B polymorphisms on CYP3A4 enzyme activity and postoperative fentanyl consumption in Chinese patients undergoing gynecologi...

    Authors: Jing-Jing Yuan, Xiao-Jing Ma, Zhi-Song Li, Yan-Zi Chang, Wei Zhang, Quan-Cheng Kan, Jun-Kai Hou and Li-Rong Zhang
    Citation: BMC Medical Genetics 2016 17:87
    Content type: Research article Published on:

  5. The hypothalamic G-protein-coupled-receptor melanocortin-4 receptor (MC4R) is a key player in the central circuit regulating energy expenditure and appetite. Heterozygous loss-of-function MC4R mutations are the m...

    Authors: Max Drabkin, Ohad S. Birk and Ruth Birk
    Citation: BMC Medical Genetics 2018 19:135
    Content type: Research article Published on:

  7. Multicentric carpotarsal osteolysis syndrome (MCTO) is characterized by progressive destruction and disappearance of the carpal and tarsal bones associated with nephropathy. MCTO is caused by loss-of-function ...

    Authors: Peong Gang Park, Kee Hyuck Kim, Hye Sun Hyun, Chan Hee Lee, Jin-Su Park, Jeong Hae Kie, Young Hun Choi, Kyung Chul Moon and Hae Il Cheong
    Citation: BMC Medical Genetics 2018 19:164
    Content type: Case report Published on:

  8. In the present study, we report on a couple who underwent prenatal genetic diagnosis for autosomal recessive polycystic kidney disease (ARPKD).

    Authors: Jun Miyazaki, Mayuko Ito, Haruki Nishizawa, Takema Kato, Yukito Minami, Hidehito Inagaki, Tamae Ohye, Masafumi Miyata, Hiroko Boda, Yuka Kiriyama, Makoto Kuroda, Takao Sekiya, Hiroki Kurahashi and Takuma Fujii
    Citation: BMC Medical Genetics 2015 16:98
    Content type: Case report Published on:

  9. Gout is a common disease resulting from hyperuricemia which causes acute arthritis. A recent genome-wide association study (GWAS) of gout identified three new loci for gout in Han Chinese: regulatory factor X3 (R...

    Authors: Masayuki Sakiyama, Hirotaka Matsuo, Hirofumi Nakaoka, Yusuke Kawamura, Makoto Kawaguchi, Toshihide Higashino, Akiyoshi Nakayama, Airi Akashi, Jun Ueyama, Takaaki Kondo, Kenji Wakai, Yutaka Sakurai, Ken Yamamoto, Hiroshi Ooyama and Nariyoshi Shinomiya
    Citation: BMC Medical Genetics 2018 19:96
    Content type: Research article Published on:

  10. Keratinocytic epidermal nevus syndrome (KENS) is a complex disorder not only characterized by the presence of epidermal nevi but also by abnormalities in the internal organ systems. A small number of cases wit...

    Authors: Said Farschtschi, Victor-Felix Mautner, Silke Hollants, Christian Hagel, Marijke Spaepen, Christoph Schulte, Eric Legius and Hilde Brems
    Citation: BMC Medical Genetics 2015 16:6
    Content type: Case report Published on:

  11. Osteoarthritis (OA) is a progressive joint disease characterized by gradual degradation of extracellular matrix (ECM) components in the cartilage and bone. The ECM of cartilage is a highly specified structure ...

    Authors: Mamdooh Abdullah Gari, Mohammed AlKaff, Haneen S. Alsehli, Ashraf Dallol, Abdullah Gari, Muhammad Abu-Elmagd, Roaa Kadam, Mohammed F. Abuzinadah, Mazin Gari, Adel M. Abuzenadah, Kalamegam Gauthaman, Heba Alkhatabi and Mohammed M. Abbas
    Citation: BMC Medical Genetics 2016 17(Suppl 1):68
    Content type: Review Published on:

    This article is part of a Supplement: Volume 17 Supplement 1

  12. Defects in the human glycosylphosphatidylinositol anchor biosynthetic pathway are associated with inherited glycosylphosphatidylinositol (GPI)-deficiencies characterized by a broad range of clinical phenotypes...

    Authors: Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky and Carol Saunders
    Citation: BMC Medical Genetics 2017 18:124
    Content type: Case report Published on:

  13. Up to now, numerous case-control studies have reported the associations between fat mass and obesity associated (FTO) gene rs9939609 A/T polymorphism and polycystic ovary syndrome (PCOS), however, without a co...

    Authors: Ai Ling Liu, Hui Jun Xie, Hong Yan Xie, Jun Liu, Jie Yin, Jin Song Hu and Cui Ying Peng
    Citation: BMC Medical Genetics 2017 18:89
    Content type: Research article Published on:

  14. Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disease caused by uncontrolled proliferation of activated lymphocytes and macrophages. Six genes including SH2D1A, PRF1, UNC13D, STX11, STXBP2 and XIAP

    Authors: Dongling Liu, Xijiang Hu, Xiwen Jiang, Bo Gao, Cheng Wan and Changying Chen
    Citation: BMC Medical Genetics 2017 18:135
    Content type: Case report Published on:

  15. 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…
    Citation: BMC Medical Genetics 2019 20:81
    Content type: Research article Published on:

  18. Methyl-CpG-binding protein 2 (MeCP2) is a key transcriptional regulator of gene expression in the maintenance and development of the central nervous system. Loss- or gain-function of this gene may contribute t...

    Authors: Qingping Zhang, Ying Zhao, Yanling Yang and Xinhua Bao
    Citation: BMC Medical Genetics 2015 16:112
    Content type: Case report Published on:

  19. Prostate cancer is a heterogeneous disease, meaning patients would benefit from different treatment strategies based on their molecular stratification. In recent years, several genomic studies have identified ...

    Authors: Yi Ma, Lijie He, Qianwen Huang, Shuang Zheng, Zhiqiang Zhang, Hongshi Li and Shuang Liu
    Citation: BMC Medical Genetics 2018 19:185
    Content type: Case report Published on:

  20. Diffuse large B-cell lymphoma (DLBCL) of leukemic phase is a rare clinical manifestation, but is highly prevalent with central nervous system involvement (CNSI). Little is known about this rare clinical observ...

    Authors: Dehui Zou, Shuhua Yi, Rui Cui, Wei Liu, Chengwen Li, Shizhen Zhong, Zhen Yu, Zengjun Li, Rui Lv, Kun Ru, Huijun Wang, Gang An, Yan Xu and Lugui Qiu
    Citation: BMC Medical Genetics 2017 18:16
    Content type: Research article Published on:

  21. Factor V Leiden polymorphism is a well-recognized genetic factor in the etiology of preeclampsia. Considering that Ghana is recording high incidence of preeclampsia, we examined if factor V Leiden is a contrib...

    Authors: G. K. Ababio, K. Adu-Bonsaffoh, E. Abindau, G. Narh, D. Tetteh, F. Botchway, D. Morvey, J. Neequaye and I. K. Quaye
    Citation: BMC Medical Genetics 2019 20:189
    Content type: Research article Published on:

  22. Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentatio...

    Authors: Chuan Li, Rongyu Chen, Xin Fan, Jingsi Luo, Jiale Qian, Jin Wang, Bobo Xie, Yiping Shen and Shaoke Chen
    Citation: BMC Medical Genetics 2015 16:23
    Content type: Case report Published on:

  23. Metabolic syndrome (MetS) is characterized by a clustering of cardiovascular risk factors that include: abdominal obesity, dyslipidemia, hypertension and glucose intolerance. Angiopoietin-like protein 4 (ANGPT...

    Authors: Sara Kharazmi-Khorassani, Jasmin Kharazmi-Khorassani, Azam Rastegar-Moghadam, Sara Samadi, Hamideh Ghazizadeh, Maryam Tayefi, Gordon A. Ferns, Majid Ghayour-Mobarhan, Amir Avan and Habibollah Esmaily
    Citation: BMC Medical Genetics 2019 20:97
    Content type: Research article Published on:

  24. Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic disorder caused by mutations in the DHCR7 gene. SLOS is characterized by a plethora of abnormalities involving mainly the brain ...

    Authors: Arianna Tucci, Luisa Ronzoni, Carlo Arduino, Paola Salmin, Susanna Esposito and Donatella Milani
    Citation: BMC Medical Genetics 2016 17:22
    Content type: Case report Published on:

  25. In about one third of healthy subjects, the microscopic analysis of chromosomes reveals heteromorphisms with no clinical implications: for example changes in size of the short arm of acrocentric chromosomes. I...

    Authors: Chiara Magri, Eleonora Marchina, Valeria Bertini, Michele Traversa, Giulia Savio, Alba Pilotta and Giovanna Piovani
    Citation: BMC Medical Genetics 2015 16:47
    Content type: Case report Published on:

  26. Microcephaly is a disorder characterized by severe impairment in brain development, reduced brain and head size. Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important ...

    Authors: Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao and Xuelian He
    Citation: BMC Medical Genetics 2017 18:141
    Content type: Case report Published on:

  27. Psoriasis is a multifactorial disorder, impacted by both genetic and environmental factors. Herein, a meta-analysis assessed the association of angiotensin-converting enzyme gene insertion/deletion (ACE I/D) poly...

    Authors: Mazaher Ramezani, Elisa Zavattaro and Masoud Sadeghi
    Citation: BMC Medical Genetics 2020 21:8
    Content type: Research article Published on:

  28. Blue Cone Monochromacy (BCM) is a rare congenital cone dysfunction disorder with X-linked recessive mode of inheritance. BCM is caused by mutations at the OPN1LW/MW cone opsin gene cluster including deletions of ...

    Authors: Elena Buena-Atienza, Fadi Nasser, Susanne Kohl and Bernd Wissinger
    Citation: BMC Medical Genetics 2018 19:107
    Content type: CASE REPORT Published on:

  29. Septo-optic dysplasia (SOD), also known as de-Morsier syndrome, is a rare disorder characterized by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain...

    Authors: A. Fernández-Marmiesse, M. S. Pérez-Poyato, A. Fontalba, E. Marco de Lucas, M. T. Martínez, M. J. Cabero Pérez and M. L. Couce
    Citation: BMC Medical Genetics 2019 20:112
    Content type: Case report Published on:

  30. Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is...

    Authors: Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz and Miriam Guitart
    Citation: BMC Medical Genetics 2017 18:137
    Content type: Case report Published on:

  31. KBG syndrome is a very rare autosomal dominant disorder, characterized by macrodontia, distinctive craniofacial findings, skeletal findings, post-natal short stature, and developmental delays, sometimes associ...

    Authors: Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius…
    Citation: BMC Medical Genetics 2019 20:16
    Content type: Case report Published on:

  32. Sirtuin-6 (SIRT6) is involved in various crucial cellular pathways, being a key regulator of telomere structure, DNA repair, metabolism, transcriptional control and the NF-kappa B pathway. Sirt6 knock-out mice ha...

    Authors: Katariina Hirvonen, Hannele Laivuori, Jari Lahti, Timo Strandberg, Johan G. Eriksson and Peter Hackman
    Citation: BMC Medical Genetics 2017 18:41
    Content type: Research article Published on:

  33. The genome-wide association study has founded hypertension-related single nucleotide polymorphism (SNP) rs11191548 near CYP17A1 encoding a key enzyme involved in steroid metabolism, but the molecular mechanisms a...

    Authors: Lijun Wu, Liwang Gao, Xiaoyuan Zhao, Meixian Zhang, Jianxin Wu and Jie Mi
    Citation: BMC Medical Genetics 2018 19:9
    Content type: Research article Published on:

  34. Patients on renal replacement therapy are often unaware of their underlying condition and hence suffer from so-called end-stage renal disease (ESRD) of unknown origin. However, an exact diagnosis is not only i...

    Authors: Johannes Münch, Maik Grohmann, Tom H. Lindner, Carsten Bergmann and Jan Halbritter
    Citation: BMC Medical Genetics 2016 17:73
    Content type: Case report Published on:

  35. Ring chromosome 18 [r(18)] is formed by 18p- and 18q- partial deletion and generates a ring chromosome. Loss of critical genes on each arm of chromosome 18 may contribute to the specific phenotype, and the cli...

    Authors: Hui Yao, Chuanchun Yang, Xiaoli Huang, Luhong Yang, Wei Zhao, Dan Yin, Yuan Qin, Feng Mu, Lin Liu, Ping Tian, Zhisheng Liu and Yun Yang
    Citation: BMC Medical Genetics 2016 17:49
    Content type: Case report Published on:

  36. Mohr-Tranebjaerg syndrome (MTS) is a rare X-linked recessive neurodegenerative disorder resulting in early-onset hearing impairment, gradual dystonia and optic atrophy. MTS is caused by variations in the nucle...

    Authors: Hongyang Wang, Li Wang, Ju Yang, Linwei Yin, Lan Lan, Jin Li, Qiujing Zhang, Dayong Wang, Jing Guan and Qiuju Wang
    Citation: BMC Medical Genetics 2019 20:11
    Content type: Research article Published on:

  37. Ataxia with oculomotor apraxia type 1 is an autosomal-recessive neurodegenerative disorder characterized by a childhood onset of slowly progressive cerebellar ataxia, followed by oculomotor apraxia and a sever...

    Authors: Rick van Minkelen, Miriam Guitart, Conxita Escofet, Grace Yoon, Peter Elfferich, Galhana M. Bolman, Robert van der Helm, Raoul van de Graaf and Ans M.W. van den Ouweland
    Citation: BMC Medical Genetics 2015 16:61
    Content type: Case report Published on:

  38. A large amount of researches have demonstrated that vitamin D receptor (VDR) gene polymorphisms are associated with diabetic nephropathy (DN) risk in diabetes mellitus (DM) patients. Nevertheless, the results ...

    Authors: Lina Yang, Lan Wu, Yi Fan and Jianfei Ma
    Citation: BMC Medical Genetics 2017 18:95
    Content type: Research article Published on:

  39. Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MR...

    Authors: Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali and Abdul Rezzak Hamzeh
    Citation: BMC Medical Genetics 2017 18:68
    Content type: Case report Published on:

  40. X-linked ichthyosis (XLI) is a recessive keratinization condition caused by deficient activity of steroid-sulfatase due to mutations in steroid sulfatase (STS) gene located on the X chromosome. In contrast, ichth...

    Authors: Xiong Wang, Lu Tan, Na Shen, Yanjun Lu and Ying Zhang
    Citation: BMC Medical Genetics 2018 19:120
    Content type: Case report Published on:

  41. Mucolipidosis alpha/beta is an inborn error of metabolism characterized by deficiency of GlcNAc-1-phosphotransferase, in which essential alpha/beta subunits are encoded by the GNPTAB gene. The autosomal recessive...

    Authors: Chi-Chun Ho, Lilian Li-Yan Tsung, Kam-Tim Liu and Wing-Tat Poon
    Citation: BMC Medical Genetics 2018 19:162
    Content type: Case report Published on:

  42. Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by partial 4p deletion highly variable in size in individual patients. The core WHS phenotype is defined by the association of growth delay, ...

    Authors: Yanrui Jiang, Huizhen Sun, Qingmin Lin, Zengge Wang, Guanghai Wang, Jian Wang, Fan Jiang and Ruen Yao
    Citation: BMC Medical Genetics 2019 20:134
    Content type: Case report Published on:

  43. Genetic studies to date have not provided satisfactory evidence regarding risk polymorphisms for cardiovascular disease (CVD). Conversely, epigenetic mechanisms, including DNA methylation, seem to influence th...

    Authors: Ramon Bossardi Ramos, Vitor Fabris, Sheila Bunecker Lecke, Maria Augusta Maturana and Poli Mara Spritzer
    Citation: BMC Medical Genetics 2016 17:71
    Content type: Research article Published on:

  45. Gastrointestinal stromal tumors (GIST) recently have been recognized as a genetically and biologically heterogeneous disease. In addition to KIT or PDGFRA mutated GIST, mutational inactivation of succinate dehydr...

    Authors: Milena Urbini, Annalisa Astolfi, Valentina Indio, Michael C. Heinrich, Christopher L. Corless, Margherita Nannini, Gloria Ravegnini, Guido Biasco and Maria A. Pantaleo
    Citation: BMC Medical Genetics 2015 16:87
    Content type: Case report Published on:

  46. Mutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene produc...

    Authors: Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra and Madhumita Roy Chowdhury
    Citation: BMC Medical Genetics 2019 20:164
    Content type: Research article Published on:

  47. Congenital contractural arachnodactyly (CCA) is an autosomal dominant rare genetic disease, estimated to be less than 1 in 10,000 worldwide. People with this condition often have permanently bent joints (contr...

    Authors: Xingping Guo, Chunying Song, Yaping Shi, Hongxia Li, Weijing Meng, Qinzhao Yuan, Jinjie Xue, Jun Xie, Yunxia Liang, Yanan Yuan, Baofeng Yu, Huaixiu Wang, Yun Chen, Lixin Qi and Xinmin Li
    Citation: BMC Medical Genetics 2016 17:91
    Content type: Case report Published on:

  48. Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto...

    Authors: Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A. Shaw, Masayo Kagami, Toshiro Hara and Shouichi Ohga
    Citation: BMC Medical Genetics 2017 18:117
    Content type: Case report Published on:

  49. Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability.

    Authors: Anwar Baban, Monia Magliozzi, Bart Loeys, Rachele Adorisio, Viola Alesi, Aurelio Secinaro, Bernadette Corica, Luca Vricella, Harry C. Dietz, Fabrizio Drago, Antonio Novelli and Antonio Amodeo
    Citation: BMC Medical Genetics 2018 19:170
    Content type: Case report Published on:

  50. It has been reported that the single nucleotide polymorphism (SNP) rs2854744 at the − 202 locus of insulin-like growth factor binding protein-3 (IGFBP3) is associated with serum levels and a number of malignan...

    Authors: Ming Gao, Bin Zhu, Zhe Xu, Shujun Liu, Jiajia Liu, Guojun Zhang, Yang Gao, Yubo Fan and Xixiong Kang
    Citation: BMC Medical Genetics 2018 19:182
    Content type: Research article Published on:

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