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  1. Content type: Research article

    Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a sev...

    Authors: Jana Lisyová, Ján Chandoga, Petra Jungová, Marcel Repiský, Mária Knapková, Martina Machková, Svetozár Dluholucký, Darina Behúlová, Jana Šaligová, Ľudmila Potočňáková, Miroslava Lysinová and Daniel Böhmer

    Citation: BMC Medical Genetics 2018 19:64

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  2. Content type: Case report

    Testis-expressed gene 11 (TEX11) is an X-linked gene and essential for meiotic recombination and chromosomal synapsis. TEX11 deficiency causes meiotic arrest and male infertility, and many TEX11 mutations have be...

    Authors: Yanwei Sha, Liangkai Zheng, Zhiyong Ji, Libin Mei, Lu Ding, Shaobin Lin, Xu Wang, Xiaoyu Yang and Ping Li

    Citation: BMC Medical Genetics 2018 19:63

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  3. Content type: Research article

    Research suggests there may be a genetic influence on the likelihood of becoming tanning dependent (TD). The way in which mothers regulate their children’s sun exposure may be affected by being TD. We investig...

    Authors: Jasmine Khouja, Sarah J. Lewis and Carolina Bonilla

    Citation: BMC Medical Genetics 2018 19:62

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  4. Content type: Case report

    Wilson’s disease (WD) is an autosomal recessive disorder characterized by copper accumulation. ATP7B gene mutations lead to ATP7B protein dysfunction, which in turn causes Wilson’s disease.

    Authors: Gang Liu, Dingyuan Ma, Jian Cheng, Jingjing Zhang, Chunyu Luo, Yun Sun, Ping Hu, Yuguo Wang, Tao Jiang and Zhengfeng Xu

    Citation: BMC Medical Genetics 2018 19:61

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  5. Content type: Case report

    X-linked lymphoproliferative syndrome type 1 (XLP1) is an X-linked recessive genetic disorder with a strong resemblance to hemophagocytic lymphohistiocytosis (HLH). Causative mutations for XLP1 have been ident...

    Authors: Xiaodong Lyu, Zhen Guo, Yangwei Li, Ruihua Fan and Yongping Song

    Citation: BMC Medical Genetics 2018 19:60

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  6. Content type: Research article

    Considered as one of the major causes of low back pain, Intervertebral disc degeneration (IVDD) is caused by several genetic and environmental factors. As inflammation plays an important role in disc degenerat...

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

    Citation: BMC Medical Genetics 2018 19:59

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  7. Content type: Case report

    Butyrylcholinesterase (BChE), an ester hydrolase produced mainly by the liver, hydrolyzes certain short-acting neuromuscular blocking agents, like succinylcholine and mivacurium that are widely used during ane...

    Authors: Rentao Yu, Yanzhi Guo, Yunjie Dan, Wenting Tan, Qing Mao and Guohong Deng

    Citation: BMC Medical Genetics 2018 19:58

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  8. Content type: Research article

    Since the advent of next generation sequencing (NGS), several studies have tried to evaluate the relevance of targeted gene panel sequencing and whole exome sequencing for molecular diagnosis of mitochondrial ...

    Authors: Morgane Plutino, Annabelle Chaussenot, Cécile Rouzier, Samira Ait-El-Mkadem, Konstantina Fragaki, Véronique Paquis-Flucklinger and Sylvie Bannwarth

    Citation: BMC Medical Genetics 2018 19:57

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  9. Content type: Research article

    Long QT syndrome (LQTS) is an inherited cardiac disorder predisposing to sudden cardiac death (SCD). We studied factors affecting the clinical course of genetically confirmed patients, in particular those not ...

    Authors: Mikael Koponen, Aki S. Havulinna, Annukka Marjamaa, Annukka M. Tuiskula, Veikko Salomaa, Päivi J. Laitinen-Forsblom, Kirsi Piippo, Lauri Toivonen, Kimmo Kontula, Matti Viitasalo and Heikki Swan

    Citation: BMC Medical Genetics 2018 19:56

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  10. Content type: Research article

    The identification of variants in the nicotinic acetylcholine receptor (nAChR) subunit genes associated with smoking phenotypes are increasingly important for prevention and treatment of nicotine dependence. I...

    Authors: Paulo Roberto Xavier Tomaz, Juliana Rocha Santos, Jaqueline Scholz, Tânia Ogawa Abe, Patrícia Viviane Gaya, André Brooking Negrão, José Eduardo Krieger, Alexandre Costa Pereira and Paulo Caleb Júnior Lima Santos

    Citation: BMC Medical Genetics 2018 19:55

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  11. Content type: Case report

    Glycogen Storage Disease Type III (GSD III) is a rare autosomal recessive metabolic disorder caused by AGL gene mutation. There is significant heterogeneity between the clinical manifestations and the gene mutati...

    Authors: Yu Zhang, Mingming Xu, Xiaoxia Chen, Aijuan Yan, Guoyong Zhang, Zhenguo Liu and Wenjuan Qiu

    Citation: BMC Medical Genetics 2018 19:54

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  12. Content type: Technical advance

    Williams syndrome ([WS], 7q11.23 hemideletion) and 7q11.23 duplication syndrome (Dup7) show contrasting syndromic symptoms. However, within each group there is considerable interindividual variability in the d...

    Authors: Michael D. Gregory, Bhaskar Kolachana, Yin Yao, Tiffany Nash, Dwight Dickinson, Daniel P. Eisenberg, Carolyn B. Mervis and Karen F. Berman

    Citation: BMC Medical Genetics 2018 19:53

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  13. Content type: Case report

    Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder. It is caused by a critically reduced α-2-acetamido-2-deoxy-D-glucoside acetamidodeo...

    Authors: Jinliang Li, Han Xie and Yuwu Jiang

    Citation: BMC Medical Genetics 2018 19:51

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  14. Content type: Research article

    Signal transducer and activator of transcription 3 (STAT3) is involved in hepatitis B virus (HBV) infection and HBV-related hepatocellular carcinoma (HCC). The association between polymorphism rs1053005 and ha...

    Authors: Man Li, Fang Li, Na Li, Jiao Sang, Xiude Fan, Huan Deng, Xiaoge Zhang, Qunying Han, Yi Lv and Zhengwen Liu

    Citation: BMC Medical Genetics 2018 19:52

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  15. Content type: Research article

    Psoriasis and psoriatic arthritis (PsA) are inflammatory associated autoimmune disorders. MicroRNA (miR)-146a plays a crucial role in regulating inflammation. A single nucleotide polymorphism in the miR-146a g...

    Authors: Ajesh B. Maharaj, Pragalathan Naidoo, Terisha Ghazi, Naeem S. Abdul, Shanel Dhani, Taskeen F. Docrat, Prithiksha Ramkaran, Paul-Peter Tak, Niek de Vries and Anil A. Chuturgoon

    Citation: BMC Medical Genetics 2018 19:48

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  16. Content type: Case report

    Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing’s syndrome (CS). BMAH is predominantly believed to be caused by two mutations, a germline and somatic one, respectively, as describe...

    Authors: Qiuli Liu, Dali Tong, Jing Xu, Xingxia Yang, Yuting Yi, Dianzheng Zhang, Luofu Wang, Jun Zhang, Yao Zhang, Yaoming Li, Lianpeng Chang, Rongrong Chen, Yanfang Guan, Xin Yi and Jun Jiang

    Citation: BMC Medical Genetics 2018 19:49

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  17. Content type: Research article

    The contribution of moderate coagulation factor XII (FXII) deficiency to development of thromboembolism is still undetermined. We have tried to show the relevance of FXII deficiency to incidences of venous thr...

    Authors: Xi Wu, Qiulan Ding, Xuefeng Wang, Jing Dai and Wenman Wu

    Citation: BMC Medical Genetics 2018 19:50

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  18. Content type: Research article

    Chromosomal microarray analysis (CMA) is recommended as the first-tier clinical diagnostic test for individuals with developmental disabilities. In addition to detecting copy number variations, CMA platforms w...

    Authors: Aparna Prasad, Matthew A. Sdano, Rena J. Vanzo, Patricia A. Mowery-Rushton, Moises A. Serrano, Charles H. Hensel and E. Robert Wassman

    Citation: BMC Medical Genetics 2018 19:46

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  19. Content type: Case report

    The NAA10-NAA15 (NatA) protein complex is an N-terminal acetyltransferase responsible for acetylating ~ 40% of eukaryotic proteins. In recent years, NAA10 variants have been found in patients with an X-linked dev...

    Authors: Nina McTiernan, Svein Isungset Støve, Ingvild Aukrust, Marita Torrisen Mårli, Line M. Myklebust, Gunnar Houge and Thomas Arnesen

    Citation: BMC Medical Genetics 2018 19:47

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  20. Content type: Research article

    Preeclampsia and gestational hypertensive disorders are thought to occur due to endothelial cell dysfunction and abnormal placentation, triggered by angiogenesis-related factors yet undetermined. The aim of th...

    Authors: Evangelia Elenis, Alkistis Skalkidou, Agneta Skoog-Svanberg, Gunilla Sydsjö, Anneli Stavreus-Evers and Helena Åkerud

    Citation: BMC Medical Genetics 2018 19:44

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  21. Content type: Research article

    There are disparities for the association between uncoupling proteins (UCP) and type 2 diabetes (T2DM). The study was to examine the associations of genetic variants of UCP2 and UCP3 with prediabetes and T2DM ...

    Authors: Meifang Su, Xiaoying Chen, Yue Chen, Congyun Wang, Songtao Li, Xuhua Ying, Tian Xiao, Na Wang, Qingwu Jiang and Chaowei Fu

    Citation: BMC Medical Genetics 2018 19:43

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  22. Content type: Research article

    In this study we investigated the association between SNPs in the S100B gene and Parkinson’s disease (PD) in two independent Swedish cohorts. The SNP rs9722 has previously been shown to be associated with high...

    Authors: Camilla Fardell, Anna Zettergren, Caroline Ran, Andrea Carmine Belin, Agneta Ekman, Olof Sydow, Lars Bäckman, Björn Holmberg, Nil Dizdar, Peter Söderkvist and Hans Nissbrandt

    Citation: BMC Medical Genetics 2018 19:42

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  23. Content type: Case report

    Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft...

    Authors: Maxime Cadieux-Dion, Nicole P. Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer and Isabelle Thiffault

    Citation: BMC Medical Genetics 2018 19:41

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  24. Content type: Research article

    Takotsubo cardiomyopathy (TCM), also known as “broken heart syndrome”, is a type of heart failure characterized by transient ventricular dysfunction in the absence of obstructive coronary lesions. Although ass...

    Authors: Emma Mattsson, Peter Saliba-Gustafsson, Ewa Ehrenborg and Per Tornvall

    Citation: BMC Medical Genetics 2018 19:39

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