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  1. Content type: Case report

    Wilson disease (OMIM # 277900) is a autosomal recessive disorder characterized by accumulation of copper in liver and brain. The accumulation of copper resulting in oxidative stress and eventually cell death. ...

    Authors: Nguyen Thi Mai Huong, Nguyen Thi Kim Lien, Ngo Diem Ngoc, Nguyen Thi Phuong Mai, Nguyen Pham Anh Hoa, Le Thanh Hai, Phan Van Chi, Ta Thanh Van, Tran Van Khanh and Nguyen Huy Hoang

    Citation: BMC Medical Genetics 2018 19:104

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  2. Content type: Case report

    Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, c...

    Authors: Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito Mizuno, George Seki, Shoji Tsuji and Masaomi Nangaku

    Citation: BMC Medical Genetics 2018 19:103

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  3. Content type: Research article

    Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder caused by a heterozygous germline mutation in the tumor suppressor gene NF1. Because of the existence of highly homologous pseudogenes, the l...

    Authors: Bin Mao, Siyu Chen, Xin Chen, Xiumei Yu, Xiaojia Zhai, Tao Yang, Lulu Li, Zheng Wang, Xiuli Zhao and Xue Zhang

    Citation: BMC Medical Genetics 2018 19:101

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  4. Content type: Case report

    Congenital disorders of glycosylation are rare conditions caused by genetic defects in glycan synthesis, processing or transport. Most congenital disorders of glycosylation involve defects in the formation or ...

    Authors: Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz, Elizabeth I. Pierpont, Joan Steyermark, David Nascene, Matthew Bower and Mary Ella Pierpont

    Citation: BMC Medical Genetics 2018 19:100

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  5. Content type: Research article

    Usher syndrome (USH) is a common heterogeneous retinopathy and a hearing loss (HL) syndrome. However, the gene causing Usher syndrome type IIC (USH2C) in a consanguineous Chinese pedigree is unknown.

    Authors: Chunli Wei, Lisha Yang, Jingliang Cheng, Saber Imani, Shangyi Fu, Hongbin Lv, Yumei Li, Rui Chen, Elaine Lai-Han Leung and Junjiang Fu

    Citation: BMC Medical Genetics 2018 19:99

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  6. Content type: Research article

    Association of GSTM1- and GSTT1-null genotypes, GSTP1 A/G gene polymorphism with renal cell carcinoma (RCC) susceptibility was detected, and the relationship between the GSTM1/GSTT1-null genotype and clinical TNM...

    Authors: Zhiqing Zhong, Hongyan Li, Hongzhen Zhong, Tianbiao Zhou, Weiji Xie and Zhijun Lin

    Citation: BMC Medical Genetics 2018 19:98

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  7. Content type: Research article

    Genome-wide association studies (GWAS) have identified a variant (rs9349379) at the phosphatase and actin regulator 1 (PHACTR1) locus that is associated with coronary artery disease (CAD). The same variant is als...

    Authors: Valérie-Anne Codina-Fauteux, Mélissa Beaudoin, Simon Lalonde, Ken Sin Lo and Guillaume Lettre

    Citation: BMC Medical Genetics 2018 19:97

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  8. Content type: Research article

    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

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  9. Content type: Research article

    We investigated a South African family of admixed ancestry in which the first generation (G1) developed insidious progressive distal to proximal weakness in their twenties, while their offspring (G2) experienc...

    Authors: Mahjoubeh Jalali-Sefid-Dashti, Melissa Nel, Jeannine M. Heckmann and Junaid Gamieldien

    Citation: BMC Medical Genetics 2018 19:95

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  10. Content type: Case report

    Mutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). In such cases, DCM is associated with different rhythm disturbances such as the multifocal ectopic Purkinje-related ...

    Authors: Joanna Zakrzewska-Koperska, Maria Franaszczyk, Zofia Bilińska, Grażyna Truszkowska, Małgorzata Karczmarz, Łukasz Szumowski, Tomasz Zieliński, Rafał Płoski and Maria Bilińska

    Citation: BMC Medical Genetics 2018 19:94

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  11. Content type: Research article

    Several type 2 diabetes (T2D) susceptibility loci identified via genome-wide association studies were found to be replicated among various populations. However, the influence of these loci on T2D in Thai popul...

    Authors: Nattachet Plengvidhya, Chutima Chanprasert, Nalinee Chongjaroen, Pa-thai Yenchitsomanus, Mayuree Homsanit and Watip Tangjittipokin

    Citation: BMC Medical Genetics 2018 19:93

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  12. Content type: Case report

    The link between the protocadherin-19 (PCDH19) gene and epilepsy suggests that an unusual form of X-linked inheritance affects females but is transmitted through asymptomatic males. Individuals with epilepsy asso...

    Authors: Yuxia Tan, Mei Hou, Shaochun Ma, Peipei Liu, Shungang Xia, Yu Wang, Liping Chen and Zongbo Chen

    Citation: BMC Medical Genetics 2018 19:92

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  13. Content type: Case report

    Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by the development of hamartomas in multiple organs, including the brain, heart, skin, kidney, lung and retina. A diagno...

    Authors: Feng Wang, Shiyi Xiong, Lin Wu, Maya Chopra, Xihong Hu and Bingbing Wu

    Citation: BMC Medical Genetics 2018 19:90

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  14. Content type: Research article

    Pulmonary arterial hypertension (PAH) is a rare disease with an incidence rate of 2–6 cases per million per year. Our knowledge of the disease in the Middle East and North Africa (MENA) region is limited by th...

    Authors: Ossama K. Abou Hassan, Wiam Haidar, Georges Nemer, Hadi Skouri, Fadi Haddad and Imad BouAkl

    Citation: BMC Medical Genetics 2018 19:89

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  15. Content type: Case report

    Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patient...

    Authors: Murat Durdu, Sara Missaglia, Laura Moro and Daniela Tavian

    Citation: BMC Medical Genetics 2018 19:88

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  16. Content type: Case report

    Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved i...

    Authors: Leila Youssefian, Hassan Vahidnezhad, Andrew Touati, Vahid Ziaee, Amir Hossein Saeidian, Sara Pajouhanfar, Sirous Zeinali and Jouni Uitto

    Citation: BMC Medical Genetics 2018 19:87

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  17. Content type: Case report

    Osteogenesis imperfecta (OI) is a group of connective tissue disorder caused by mutations of genes involved in the production of collagen and its supporting proteins. Although the majority of reported OI varia...

    Authors: Fatemeh Maghami, Seyed Mohammad Bagher Tabei, Hossein Moravej, Hassan Dastsooz, Farzaneh Modarresi, Mohammad Silawi and Mohammad Ali Faghihi

    Citation: BMC Medical Genetics 2018 19:86

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  18. Content type: Case report

    Dyskeratosis congenita (DC) is a rare genetic disorder of bone marrow failure inherited in an X-linked, autosomal dominant or autosomal recessive pattern. It has a wide array of clinical features and patients ...

    Authors: Vithiya Ratnasamy, Suganthan Navaneethakrishnan, Nirmala Dushyanthi Sirisena, Nana-Maria Grüning, Oliver Brandau, Kumanan Thirunavukarasu, Casey L. Dagnall, Lisa J. McReynolds, Sharon A. Savage and Vajira H. W. Dissanayake

    Citation: BMC Medical Genetics 2018 19:85

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  19. Content type: Research article

    Precocious puberty (PP) is defined as premature pubertal development. Its consequences surpass the physical evidence of sexual maturity with the premature epiphyseal closure of the long bones and the reduction...

    Authors: José Maria Soares-Jr, Felisbela Soares de Holanda, Cézar Noboru Matsuzaki, Isabel Cristina Esposito Sorpreso, Eduardo Carvalho de Arruda Veiga, Luiz Carlos de Abreu, Kátia Cândido Carvalho and Edmund Chada Baracat

    Citation: BMC Medical Genetics 2018 19:84

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  20. Content type: Case report

    Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous and potentially fatal disease that presents symptoms of persistent fever, splenomegaly and cytopenia. Primary HLH is identified as an autosomal reces...

    Authors: Xijiang Hu, Dongling Liu, Xiwen Jiang, Bo Gao and Changying Chen

    Citation: BMC Medical Genetics 2018 19:82

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  21. Content type: Research article

    Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A...

    Authors: Michaela A. H. Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf and Barbara Vona

    Citation: BMC Medical Genetics 2018 19:81

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  22. Content type: Case report

    Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary...

    Authors: Joshi Stephen, Sheela Nampoothiri, K. P. Vinayan, Dhanya Yesodharan, Preetha Remesh, William A. Gahl and May Christine V. Malicdan

    Citation: BMC Medical Genetics 2018 19:80

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  23. Content type: Research article

    Mutations in the aggrecan (ACAN) gene can cause short stature (with heterogeneous clinical phenotypes), impaired bone maturation, and large variations in response to growth hormone (GH) treatment. For such cases,...

    Authors: Dandan Xu, Chengjun Sun, Zeyi Zhou, Bingbing Wu, Lin Yang, Zhuo Chang, Miaoying Zhang, Li Xi, Ruoqian Cheng, Jinwen Ni and Feihong Luo

    Citation: BMC Medical Genetics 2018 19:79

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  24. Content type: Research article

    The association between ABCC8 gene C49620T polymorphism and type 2 diabetes (T2D) in populations of diverse ethnic backgrounds has been reported. However, such occurrence in an African population is yet to be est...

    Authors: Godwill Azeh Engwa, Friday Nweke Nwalo, Claribel Chidimma Chikezie, Christie Oby Onyia, Opeolu Oyejide Ojo, Wilfred Fon Mbacham and Benjamin Ewa Ubi

    Citation: BMC Medical Genetics 2018 19:78

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  25. Content type: Research article

    Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This cli...

    Authors: Laura Alías, Jaume Crespi, Lidia González-Quereda, Jesús Téllez, Elisabeth Martínez, Sara Bernal and Ma Pia Gallano

    Citation: BMC Medical Genetics 2018 19:77

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  26. Content type: Case report

    Raine syndrome (RS) – an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis wit...

    Authors: Jayesh Sheth, Riddhi Bhavsar, Ajit Gandhi, Frenny Sheth and Dhairya Pancholi

    Citation: BMC Medical Genetics 2018 19:76

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  27. Content type: Case report

    We describe a female infant with Fragile-X syndrome, with a fully expanded FMR1 allele and preferential inactivation of the homologous X-chromosome carrying a de novo deletion. This unusual and rare case demonstr...

    Authors: Paula Jorge, Elsa Garcia, Ana Gonçalves, Isabel Marques, Nuno Maia, Bárbara Rodrigues, Helena Santos, Jacinta Fonseca, Gabriela Soares, Cecília Correia, Margarida Reis-Lima, Vincenzo Cirigliano and Rosário Santos

    Citation: BMC Medical Genetics 2018 19:74

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  28. Content type: Research article

    Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often sev...

    Authors: Renata Watanabe Nonose, Karina Lezirovitz, Maria Teresa Balester de Mello Auricchio, Ana Carla Batissoco, Guilherme Lopes Yamamoto and Regina Célia Mingroni-Netto

    Citation: BMC Medical Genetics 2018 19:73

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  29. Content type: Case report

    Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects children below 3 years of age and presents with delay in motor skills,...

    Authors: Liena E. O. Elsayed, Inaam N. Mohammed, Ahlam A. A. Hamed, Maha A. Elseed, Mustafa A. M. Salih, Ashraf Yahia, Rayan A. Siddig, Mutaz Amin, Mahmoud Koko, Mustafa I. Elbashir, Muntaser E. Ibrahim, Alexis Brice, Ammar E. Ahmed and Giovanni Stevanin

    Citation: BMC Medical Genetics 2018 19:72

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  30. Content type: Research article

    Diabetic macular edema (DME) and proliferative diabetic retinopathy (PDR) are sight-threatening complications of diabetes mellitus and leading causes of adult-onset blindness worldwide. Genetic risk factors fo...

    Authors: Patricia S. Graham, Georgia Kaidonis, Sotoodeh Abhary, Mark C. Gillies, Mark Daniell, Rohan W. Essex, John H. Chang, Stewart R. Lake, Bishwanath Pal, Alicia J. Jenkins, Alex W. Hewitt, Ecosse L. Lamoureux, Philip G. Hykin, Nikolai Petrovsky, Matthew A. Brown, Jamie E. Craig…

    Citation: BMC Medical Genetics 2018 19:71

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  31. Content type: Case report

    Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachyd...

    Authors: Taifeng Zhou, Yongqian Wang, Hang Zhou, Zhiheng Liao, Bo Gao, Deying Su, Shuhui Zheng, Caixia Xu and Peiqiang Su

    Citation: BMC Medical Genetics 2018 19:70

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  32. Content type: Case report

    Congenital hypothyroidism (CH) has an incidence of approximately 1:3000, but only 15% have mutations in the thyroid hormone synthesis pathways. Genetic analysis allows for the precise diagnosis.

    Authors: Y. Watanabe, E. Sharwood, B. Goodwin, M. K. Creech, H. Y. Hassan, M. G. Netea, M. Jaeger, A. Dumitrescu, S. Refetoff, T. Huynh and R. E. Weiss

    Citation: BMC Medical Genetics 2018 19:69

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  33. Content type: Research article

    Several genome-wide association studies (GWAS) for serum fasting glucose levels have reported HHEX as possibly causal. The objective of this study was to examine the joint effect of smoking on the association ...

    Authors: Jae Woong Sull, Tae Yong Lee and Sun Ha Jee

    Citation: BMC Medical Genetics 2018 19:68

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  34. Content type: Research article

    Genetic variations in key DNA repair genes may influence DNA repair capacity, DNA damage and breast carcinogenesis. The current study aimed to estimate the association of APEX1 and OGG1 polymorphisms with the ris...

    Authors: Tao Wang, Haitao Wang, Suisheng Yang, Hongyun Guo, Binming Zhang, Huan Guo, Lan Wang, Gongjian Zhu, Yongdong Zhang, Haihong Zhou, Xiuli Zhang, Haining Li and Haixiang Su

    Citation: BMC Medical Genetics 2018 19:67

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  35. Content type: Research article

    Peutz-Jeghers Syndrome (PJS) is a hereditary cancer predisposing syndrome caused by autosomal dominant mutations in the serine/threonine kinase 11 (STK11) gene and is associated with decreased life expectancy. Ma...

    Authors: Zhiqing Wang, Shu Liu, Siping Liu, Yadong Wang, Junsheng Chen and Baoping Wu

    Citation: BMC Medical Genetics 2018 19:66

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  36. Content type: Research article

    Dopamine is involved in several cerebral physiological processes, and single nucleotide polymorphisms (SNP) in the dopamine D2 receptor gene (DRD2) have been associated with numerous neurological and mental disor...

    Authors: Osmar Henrique Della Torre, Lúcia Arisaka Paes, Taciane Barbosa Henriques, Maricilda Palandi de Mello, Eloisa Helena Rubello Valler Celeri, Paulo Dalgalarrondo, Gil Guerra-Júnior and Amilton dos Santos-Júnior

    Citation: BMC Medical Genetics 2018 19:65

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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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