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  1. 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:

  2. Ischemic Stroke (IS) is the most common neurological emergency disease and has become the second most frequent cause of death after coronary artery disease in 2015. Owing to its high fatality rate and narrow t...

    Authors: Qizhi Xie, Xiaoyun Zhang, Sijia Peng, Jingjing Sun, Xiao Chen, Yuanfei Deng and Li Yi

    Citation: BMC Medical Genetics 2020 21:66

    Content type: Research article

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  3. Several obesity susceptibility loci in genes, including GNPDA2, SH2B1, TMEM18, MTCH2, CDKAL1, FAIM2, and MC4R, have been identified by genome-wide association studies. The purpose of this study was to investigate...

    Authors: Jing Kang, Ren-Chu Guan, Ying Zhao and Yan Chen

    Citation: BMC Medical Genetics 2020 21:65

    Content type: Research article

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  4. The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across the placenta. TRPV6 mutations have recently been assoc...

    Authors: Anna E. Mason, David Grier, Sarah F. Smithson, Christine P. Burren and Elise Gradhand

    Citation: BMC Medical Genetics 2020 21:64

    Content type: Case report

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  5. Brucellosis is a quite normal zoonotic infection, which is caused by immediate contact with animals infected with Brucella or its products. IL-10 (− 1082 G/A, − 819 C/T, − 592C/A) and IL-6 -174 G/C polymorphis...

    Authors: Xiaochun Jin, Yueyuan Wu, Shuzhou Yin, Xu Chen and Youtao Zhang

    Citation: BMC Medical Genetics 2020 21:63

    Content type: Research article

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  6. To examine the association between lipoprotein(a) (Lp(a)) levels, LPA (rs10455872 and rs3798220) and IL1F9 (rs13415097) single nucleotide polymorphisms (SNPs) with coronary artery calcification (CAC), an importan...

    Authors: Sonali Pechlivanis, Amir A. Mahabadi, Per Hoffmann, Markus M. Nöthen, Martina Broecker-Preuss, Raimund Erbel, Susanne Moebus, Andreas Stang and Karl-Heinz Jöckel

    Citation: BMC Medical Genetics 2020 21:62

    Content type: Research article

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  7. Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryot...

    Authors: Andrea Sümegi, Zoltán Hendrik, Tamás Gáll, Enikő Felszeghy, Katalin Szakszon, Péter Antal-Szalmás, Lívia Beke, Ágnes Papp, Gábor Méhes, József Balla and György Balla

    Citation: BMC Medical Genetics 2020 21:61

    Content type: Research article

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  8. Brachydactyly type A1(BDA-1) is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH). The disorder is ...

    Authors: Qi Yang, Jin Wang, Xiaoxian Tian, Fei Shen, Jing Lan, Qiang Zhang, Xin Fan, Shang Yi, Mengting Li and Yiping Shen

    Citation: BMC Medical Genetics 2020 21:60

    Content type: Research article

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  9. Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant l...

    Authors: Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir and Henry Houlden

    Citation: BMC Medical Genetics 2020 21:59

    Content type: Research article

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  10. Following publication of the original article [1], the authors flagged that the name of ‘Asal Hojjat’ was misspelled; the name had been spelled as ‘Asal Hojat’.

    Authors: Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh and Mohammad Reza Noori-Daloii

    Citation: BMC Medical Genetics 2020 21:58

    Content type: Correction

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    The original article was published in BMC Medical Genetics 2020 21:13

  13. Glutathione S-transferases play a key role in the detoxification of persistent oxidative stress products which are one of several risks factors that may be associated with many types of disease processes such ...

    Authors: Herman Karim Sombié, Abel Pegdwendé Sorgho, Jonas Koudougou Kologo, Abdoul Karim Ouattara, Sakinata Yaméogo, Albert Théophane Yonli, Florencia Wendkuuni Djigma, Daméhan Tchelougou, Dogfounianalo Somda, Isabelle Touwendpoulimdé Kiendrébéogo, Prosper Bado, Bolni Marius Nagalo, Youssoufou Nagabila, Enagnon Tiémoko Herman Donald Adoko, Patrice Zabsonré, Hassanata Millogo…

    Citation: BMC Medical Genetics 2020 21:55

    Content type: Research article

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  14. The ABCG2 rs2231142 single nucleotide polymorphism (SNP) is one of the most significant genetic variants associated with hyperuricemia (HUA) in Asian populations. However, the risk of ABCG2 rs2231142 variants for...

    Authors: Jia Liu, Wei Yang, Yun Li, Zhanyun Wei and Xiaojuan Dan

    Citation: BMC Medical Genetics 2020 21:54

    Content type: Research article

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  15. Adolescence is a distinctive stage of various changes and is noted as peak age for onset of many psychiatric disorders, especially linked to stress and depression. Several genetic variations are being increasi...

    Authors: Madhumita Ghosh, Akhtar Ali, Shobhna Joshi, Adya Shankar Srivastava and Madhu G. Tapadia

    Citation: BMC Medical Genetics 2020 21:53

    Content type: Research article

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  16. Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal t...

    Authors: Flávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco and Jaques Waisberg

    Citation: BMC Medical Genetics 2020 21:52

    Content type: Case report

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  17. The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal r...

    Authors: Wen-Cong Ruan, Jia Wang, Yong-Lin Yu, Yue-Ping Che, Li Ding, Chen-Xi Li, Xiao-Dong Wang and Hai-Feng Li

    Citation: BMC Medical Genetics 2020 21:51

    Content type: Case report

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  18. Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies P...

    Authors: Jeevana Praharsha Athota, Meenakshi Bhat, Sheela Nampoothiri, Kalpana Gowrishankar, Sanjeeva Ghanti Narayanachar, Vinuth Puttamallesh, Mohammed Oomer Farooque and Swathi Shetty

    Citation: BMC Medical Genetics 2020 21:50

    Content type: Research article

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  19. This study wants to know the genetic cause of preeclampsia (PE) which is a leading cause of maternal and perinatal death, but the underlying molecular mechanisms that cause PE remain poorly understood. Many si...

    Authors: Lin Zhang, Zheng Cao, Fan Feng, Ya-Nan Xu, Lin Li and Hong Gao

    Citation: BMC Medical Genetics 2020 21:49

    Content type: Research article

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  21. Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromusc...

    Authors: Fatima Ouchkat, Wafaa Regragui, Imane Smaili, Hajar Naciri Darai, Naima Bouslam, Mounia Rahmani, Adyl Melhaoui, Yasser Arkha, Elmostafa El Fahime and Ahmed Bouhouche

    Citation: BMC Medical Genetics 2020 21:47

    Content type: Case report

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  23. Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes...

    Authors: Gerrit M. Grosse, Christine Bauer, Bruno Kopp, Christoph Schrader and Alma Osmanovic

    Citation: BMC Medical Genetics 2020 21:45

    Content type: Research article

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  24. Abnormal calcium homeostasis related to the development of hypertension. As the key regulator of intracellular calcium concentration, voltage-dependent calcium channels (VDCCs), the variations in these genes m...

    Authors: Lifan Huang, Yan Chu, Xiaoqin Huang, Shaohui Ma, Keqin Lin, Kai Huang, Hao Sun and Zhaoqing Yang

    Citation: BMC Medical Genetics 2020 21:44

    Content type: Research article

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  25. Individuals with δβ-thalassemia/HPFH and β-thalassemia usually present with intermedia or thalassemia major. No large-scale survey on HPFH/δβ-thalassemia in southern China has been reported to date. The purpos...

    Authors: Fan Jiang, Liandong Zuo, Dongzhi Li, Jian Li, Xuewei Tang, Guilan Chen, Jianying Zhou, Hang Lu and Can Liao

    Citation: BMC Medical Genetics 2020 21:43

    Content type: Research article

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  26. von Hippel-Lindau (VHL) disease is a familial neoplasia syndrome that results from the germline mutation of VHL. Pathogenic VHL mutations include deletion, frameshift, nonsense and missense mutations. Synonymous ...

    Authors: Fang Liu, Barbara Calhoun, Md. Suhail Alam, Miaomiao Sun, Xuechun Wang, Chao Zhang, Kasturi Haldar and Xin Lu

    Citation: BMC Medical Genetics 2020 21:42

    Content type: Case report

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  27. ABO gene polymorphisms have been reported to be associated with the risk of multiple cancers and cardiocerebrovascular diseases. However, the results remained controversial. In this study, we conducted a syste...

    Authors: Yanxia Li, Luyang Liu, Yubei Huang, Hong Zheng and Lian Li

    Citation: BMC Medical Genetics 2020 21:41

    Content type: Research article

    Published on:

  28. Sarcopenia is a skeletal muscle disease of clinical importance that occurs commonly in old age and in various disease sub-categories. Widening the scope of knowledge of the genetics of muscle mass and strength...

    Authors: Abhishek Narain Singh and Bili Gasman

    Citation: BMC Medical Genetics 2020 21:40

    Content type: Research article

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  29. Following publication of the original article [1], the authors have flagged that the article has published with an error in the order of the affiliations.

    Authors: S. Razak, N. Bibi, J. A. Dar, T. Afsar, A. Almajwal, Z. Parveen and S. Jahan

    Citation: BMC Medical Genetics 2020 21:39

    Content type: Correction

    Published on:

    The original article was published in BMC Medical Genetics 2019 20:171

  30. Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy primarily affecting males that is poorly described genetically. Phenotypically, its morbidity spans from mild to lethal, however, all isol...

    Authors: Nida S. Iqbal, Thomas A. Jascur, Steven M. Harrison, Angelena B. Edwards, Luke T. Smith, Erin S. Choi, Michelle K. Arevalo, Catherine Chen, Shaohua Zhang, Adam J. Kern, Angela E. Scheuerle, Emma J. Sanchez, Chao Xing and Linda A. Baker

    Citation: BMC Medical Genetics 2020 21:38

    Content type: Research article

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  31. The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulf...

    Authors: Rachel Sayuri Honjo, Evelyn Cristina Nuñez Vaca, Gabriela Nunes Leal, Deipara Monteiro Abellan, Nana Miura Ikari, Marcelo Biscegli Jatene, Ana Maria Martins and Chong Ae Kim

    Citation: BMC Medical Genetics 2020 21:37

    Content type: Case report

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  32. Rs4977574 (A > G) and Rs1333045 (C > T) are both single nucleotide polymorphisms (SNPs) related with coronary artery disease, locating on chromosome 9p21.3. The study aimed to identify the correlation between ...

    Authors: Lei Hua, Jin-Xia Yuan, Shu He, Chen-Hui Zhao, Qiao-Wei Jia, Jing Zhang, Feng-Hui An, Zhao-Hong Chen, Li-Hua Li, Lian-Sheng Wang, Wen-Zhu Ma, Guang-Xu Xu and En-Zhi Jia

    Citation: BMC Medical Genetics 2020 21:36

    Content type: Research article

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  33. We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity.

    Authors: Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff Jr, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown and Hamish S. Scott

    Citation: BMC Medical Genetics 2020 21:35

    Content type: Research article

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  34. Epigenetics could facilitate greater understanding of disparities in the emergence of childhood obesity. While blood is a common tissue used in human epigenetic studies, saliva is a promising tissue. Our prior...

    Authors: Amanda Rushing, Evan C. Sommer, Shilin Zhao, Eli K. Po’e and Shari L. Barkin

    Citation: BMC Medical Genetics 2020 21:34

    Content type: Research article

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  35. Tudor domain-containing proteins (TDRDs) play a critical role in piRNA biogenesis and germ cell development. piRNAs, small regulatory RNAs, act by silencing of transposons during germline development and it ha...

    Authors: Emad Babakhanzadeh, Ali Khodadadian, Saadi Rostami, Iraj Alipourfard, Mohsen Aghaei, Majid Nazari, Mehdi Hosseinnia, Mohammad Yahya Vahidi Mehrjardi, Yalda Jamshidi and Nasrin Ghasemi

    Citation: BMC Medical Genetics 2020 21:33

    Content type: Research article

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  36. The involvement of cytokines in pathogenesis of pseudoexfoliation syndrome and glaucoma has been demonstrated in several studies. The aim of the present study was to explore the association between three promo...

    Authors: Ghasem Fakhraie, Farshid Parvini, Jalaledin Ghanavi, Shima Saif and Poopak Farnia

    Citation: BMC Medical Genetics 2020 21:32

    Content type: Research article

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  37. Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders.

    Authors: Yanyan Qian, Bingbing Wu, Yulan Lu, Wenhao Zhou, Sujuan Wang and Huijun Wang

    Citation: BMC Medical Genetics 2020 21:31

    Content type: Case report

    Published on:

  38. PCOS is a common disorder of women due to genetic, endocrine and environmental effects that manifests from puberty. The rs9939609 variant of fat mass and obesity associated (FTO) gene is linked to metabolic de...

    Authors: Umayal Branavan, Sulochana Wijesundera, Vishvanath Chandrasekaran, Carukshi Arambepola and Chandrika Wijeyaratne

    Citation: BMC Medical Genetics 2020 21:30

    Content type: Research article

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  39. The goal of this study was to review relevant case-control studies to determine the association of tumor necrosis factor-α (TNF-α) gene polymorphisms and coronary artery disease (CAD) susceptibility.

    Authors: Rui Huang, Su-Rui Zhao, Ya Li, Fang Liu, Yue Gong, Jun Xing and Ze-Sheng Xu

    Citation: BMC Medical Genetics 2020 21:29

    Content type: Research article

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  41. Stickler syndrome is the most common genetic cause of rhegmatogenous retinal detachment (RRD) in children, and has a high risk of blindness. Type I (STL1) is the most common subtype, caused by COL2A1 mutations. T...

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

    Citation: BMC Medical Genetics 2020 21:27

    Content type: Review

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  42. While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few case...

    Authors: Meriam Hadj Amor, Sarra Dimassi, Amel Taj, Wafa Slimani, Hanene Hannachi, Adnene Mlika, Khaled Ben Helel, Ali Saad and Soumaya Mougou-Zerelli

    Citation: BMC Medical Genetics 2020 21:26

    Content type: Research article

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  43. The aim of this study was to explore the association between diabetic retinopathy (DR) and the variants of uncoupling proteins (UCPs) genes in a Chinese population of type 2 diabetes, in total and in patients ...

    Authors: Peiyao Jin, Zhiqiang Li, Xian Xu, Jiangnan He, Jianhua Chen, Xun Xu, Xuan Du, Xuelin Bai, Bo Zhang, Xiangui He, Lina Lu, Jianfeng Zhu, Yongyong Shi and Haidong Zou

    Citation: BMC Medical Genetics 2020 21:25

    Content type: Research article

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  45. The prevalence of Parkinson’s disease (PD) is increasing in sub-Saharan Africa, but little is known about the genetics of PD in these populations. Due to their unique ancestry and diversity, sub-Saharan Africa...

    Authors: Oluwafemi G. Oluwole, Helena Kuivaniemi, Shameemah Abrahams, William L. Haylett, Alvera A. Vorster, Carel J. van Heerden, Colin P. Kenyon, David L. Tabb, Michael B. Fawale, Taofiki A. Sunmonu, Abiodun Ajose, Matthew O. Olaogun, Anastasia C. Rossouw, Ludo S. van Hillegondsberg, Jonathan Carr, Owen A. Ross…

    Citation: BMC Medical Genetics 2020 21:23

    Content type: Research article

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  46. Methylmalonic acidemia (MMA), which is an autosomal recessive metabolic disorder, is caused by mutations in methylmalonyl-CoA mutase (MUT) gene. As a result, the conversion of methylmalonyl-CoA to succinyl-CoA is...

    Authors: Parham Habibzadeh, Zahra Tabatabaei, Mohammad Ali Farazi Fard, Laila Jamali, Aazam Hafizi, Pooneh Nikuei, Leila Salarian, Mohammad Hossein Nasr Esfahani, Zahra Anvar and Mohammad Ali Faghihi

    Citation: BMC Medical Genetics 2020 21:22

    Content type: Case report

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  47. More than 95% of individuals with RTT have mutations in methyl-CpG-binding protein 2 (MECP2), whose protein product modulates gene transcription. The disorder is caused by mutations in a single gene and the di...

    Authors: Carla Caffarelli, Stefano Gonnelli, Maria Dea Tomai Pitinca, Silvia Camarri, Antonella Al Refaie, Joussef Hayek and Ranuccio Nuti

    Citation: BMC Medical Genetics 2020 21:21

    Content type: Research article

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  48. X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales on different parts of the body surface. It almost exclusiv...

    Authors: Sibtain Afzal, Khushnooda Ramzan, Sajjad Ullah, Salma M. Wakil, Arshad Jamal, Sulman Basit and Ahmed Bilal Waqar

    Citation: BMC Medical Genetics 2020 21:20

    Content type: Research article

    Published on:

  49. Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations...

    Authors: Krista Heliö, Tiia Kangas-Kontio, Sini Weckström, Sari U. M. Vanninen, Katriina Aalto-Setälä, Tero-Pekka Alastalo, Samuel Myllykangas, Tiina M. Heliö and Juha W. Koskenvuo

    Citation: BMC Medical Genetics 2020 21:19

    Content type: Research article

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  50. Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar pedun...

    Authors: Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do and Minh-Tuan Huynh

    Citation: BMC Medical Genetics 2020 21:18

    Content type: Case report

    Published on:

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