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  1. Mutations in GJB2 gene are a major causes of deafness and their spectrum and prevalence are specific for various populations. The well-known mutation c.35delG is more frequent in populations of Caucasian origin. ...

    Authors: Marina V. Zytsar, Nikolay A. Barashkov, Marita S. Bady-Khoo, Olga A. Shubina-Olejnik, Nina G. Danilenko, Alexander A. Bondar, Igor V. Morozov, Aisen V. Solovyev, Valeriia Yu. Danilchenko, Vladimir N. Maximov and Olga L. Posukh

    Citation: BMC Medical Genetics 2018 19:138

    Content type: Research article

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  2. Rett syndrome (RTT) is a severe neurodevelopmental disorder in children characterized by a normal neurodevelopmental process in the first 6–18 months followed by a period of motor and vocal deterioration with ...

    Authors: Huong Le Thi Thanh, Trinh Do Thi Diem, Chinh Vu Duy, Ha Ly Thi Thanh, Hoa Bui Thi Phuong and Liem Nguyen Thanh

    Citation: BMC Medical Genetics 2018 19:137

    Content type: Research article

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  3. H19 was the first long non-coding RNA (lncRNA) to be confirmed. Recently, studies have suggested that H19 may participate in lung cancer (LC) development and progression. This study assessed whether single nuc...

    Authors: Lingling Li, Genyan Guo, Haibo Zhang, Baosen Zhou, Lu Bai, He Chen, Yuxia Zhao and Ying Yan

    Citation: BMC Medical Genetics 2018 19:136

    Content type: Research article

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  4. 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

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  5. The aim of this study is to identify genetic loci associated with post-bronchodilator FEV1/FVC and FEV1, and develop a multi-gene predictive model for lung function in COPD.

    Authors: Xingnan Li, Victor E. Ortega, Elizabeth J. Ampleford, R. Graham Barr, Stephanie A. Christenson, Christopher B. Cooper, David Couper, Mark T. Dransfield, Mei Lan K. Han, Nadia N. Hansel, Eric A. Hoffman, Richard E. Kanner, Eric C. Kleerup, Fernando J. Martinez, Robert Paine III, Prescott G. Woodruff…

    Citation: BMC Medical Genetics 2018 19:134

    Content type: Research article

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  6. Hearing loss is genetically heterogeneous and is one of the most common human defects. Here we screened the underlying mutations that caused autosomal recessive non-syndromic hearing loss in a Chinese family.

    Authors: Di Ma, Shanshan Shen, Hui Gao, Hui Guo, Yumei Lin, Yuhua Hu, Ruanzhang Zhang and Shayan Wang

    Citation: BMC Medical Genetics 2018 19:133

    Content type: Case report

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  7. Pseudohypoparathyroidism type 1A (PHP1A) is a rare genetic disease primarily characterized by resistance to parathyroid hormone along with hormonal resistance and other features of Albright hereditary osteodys...

    Authors: Xiao-dan Long, Jing Xiong, Zhao-hui Mo, Chang-sheng Dong and Ping Jin

    Citation: BMC Medical Genetics 2018 19:132

    Content type: Research article

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  8. Galloway–Mowat syndrome (GAMOS) is a rare hereditary renal–neurological disease characterized by early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. Recently,...

    Authors: Hye Sun Hyun, Seong Heon Kim, Eujin Park, Myung Hyun Cho, Hee Gyung Kang, Hyun Soon Lee, Noriko Miyake, Naomichi Matsumoto, Hiroyasu Tsukaguchi and Hae Il Cheong

    Citation: BMC Medical Genetics 2018 19:131

    Content type: Case report

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  9. Metabolic syndrome is a cluster of factors associated with an increased risk of developing type 2 diabetes mellitus (T2D) and coronary artery disease (CAD). It is a complex disorder resulting from the interact...

    Authors: Monique Tremblay, Diane Brisson and Daniel Gaudet

    Citation: BMC Medical Genetics 2018 19:130

    Content type: Research article

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  10. Leber’s hereditary optic neuropathy (LHON) associated with mutations in mitochondrial DNA (mtDNA) typically manifests only optic nerve involvement but in some patients may develop additional neurological compl...

    Authors: Angelica Bianco, Luigi Bisceglia, Maria Fara De Caro, Valeria Galeandro, Patrizia De Bonis, Apollonia Tullo, Stefano Zoccolella, Silvana Guerriero and Vittoria Petruzzella

    Citation: BMC Medical Genetics 2018 19:129

    Content type: Case report

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  11. To provide a synopsis of the current understanding of the association between variants of HNF1B and cancer susceptibility, we conducted a comprehensive research synopsis and meta-analysis to evaluate associations...

    Authors: Yu Tong, Yi Qu, Shiping Li, Fengyan Zhao, Yibin Wang and Dezhi Mu

    Citation: BMC Medical Genetics 2018 19:128

    Content type: Research article

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  12. Hypertension is a multifactorial disease involving both environmental and genetic Factros. G894 T eNOS polymorphism has been suggested to be responsible for reduced NO synthesis, and EH development. The objective...

    Authors: Sanaa Nassereddine, Hind Hassani Idrissi, Rachida Habbal, Rhizlane Abouelfath, Farah Korch, Majda Haraka, Adnane Karkar and Sellama Nadifi

    Citation: BMC Medical Genetics 2018 19:127

    Content type: Research article

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  13. Catechol-O-methyltransferase (COMT Val158Met) has been implicated in both depression and cardiovascular disease. The purpose of this study was to assess if COMT Val158Met, which influences the COMT enzyme activit...

    Authors: Aysha Almas, Yvonne Forsell, Vincent Millischer, Jette Möller and Catharina Lavebratt

    Citation: BMC Medical Genetics 2018 19:126

    Content type: Research article

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  14. Cenani-Lenz Syndactyly (CLS) syndrome is a rare autosomal recessive disorder characterized by syndactyly and oligodactyly of fingers and toes, disorganization and fusion of metacarpals, metatarsals and phalang...

    Authors: Dineshani Hettiaracchchi, Carine Bonnard, S. M. A. Jayawardana, Alvin Yu Jin Ng, Sumanty Tohari, Byrappa Venkatesh, Bruno Reversade, Roshni Singaraja and V. H. W. Dissanayake

    Citation: BMC Medical Genetics 2018 19:125

    Content type: Case report

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  15. Individuals with an extremely rare inherited condition, termed Congenital Insensitivity to Pain (CIP), do not feel pain in response to noxious stimuli. Variants in SCN9A, encoding the transmembrane voltage-gated ...

    Authors: Wen He, Gareth T. Young, Baohong Zhang, Peter J. Cox, Lily Ting-Yin Cho, Sally John, Sara A. Paciga, Linda S. Wood, Nicolas Danziger, Serena Scollen and Ciara Vangjeli

    Citation: BMC Medical Genetics 2018 19:124

    Content type: Research article

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  16. Wiskott-Aldrich syndrome is an X-linked recessive immunodeficiency due to mutations in Wiskott-Aldrich syndrome (WAS) gene. WAS gene is encoded for a multifunctional protein with key roles in actin polymerization...

    Authors: Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Hassan Dastsooz, Mohammad Silawi, Mohammad Ali Farazi Fard, Ali Adib, Ali Kafashan, Zahra Tabatabaei, Forough Sadeghipour and Mohammad Ali Faghihi

    Citation: BMC Medical Genetics 2018 19:123

    Content type: Case report

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  17. Digenic inheritance is the simplest model of oligenic disease. It can be observed when there is a strong epistatic interaction between two loci. For both syndromic and non-syndromic hearing impairment, several...

    Authors: Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad and Suzanne M. Leal

    Citation: BMC Medical Genetics 2018 19:122

    Content type: Research article

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  18. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare inheritable disease that mainly affects eyelid development associated with (type I) or without (type II) ovarian dysfunction, resulting i...

    Authors: Lu Zhou, Jiaqi Wang and Tailing Wang

    Citation: BMC Medical Genetics 2018 19:121

    Content type: Research article

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  19. 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

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  20. Tendinopathy pathogenesis is associated with inflammation. Regulatory T (Treg) cells contribute to early tissue repair through an anti-inflammatory action, with the forkhead box P3 (FOXP3) transcription factor...

    Authors: José Inácio Salles, Lucas Rafael Lopes, Maria Eugenia Leite Duarte, Dylan Morrissey, Marilena Bezerra Martins, Daniel Escorsim Machado, João Antonio Matheus Guimarães and Jamila Alessandra Perini

    Citation: BMC Medical Genetics 2018 19:119

    Content type: Research article

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  21. Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced head circumference at birth with no remarkable anomalies ...

    Authors: Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim and Abdelaziz Sefiani

    Citation: BMC Medical Genetics 2018 19:118

    Content type: Case report

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  22. WNT1 mutations cause bone fragility as well as brain anomalies. There are some reported cases of WNT1 mutations with normal cognition. Genotype and phenotype correlation of WNT1 mutations has not been established...

    Authors: Chulaluck Kuptanon, Chalurmpon Srichomthong, Apiruk Sangsin, Dool Kovitvanitcha, Kanya Suphapeetiporn and Vorasuk Shotelersuk

    Citation: BMC Medical Genetics 2018 19:117

    Content type: Case report

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  23. Hirschsprung disease (HSCR, aganglionic megacolon) is the most frequent genetic cause of congenital intestinal obstruction. DSCAM was identified as associated to HSCR with Down Syndrome (DS-HSCR) in European popu...

    Authors: Yong Wang, Qiuming He, Ruizhong Zhang, Wei Zhong, Deli Zhu, Yan Zhang and Huimin Xia

    Citation: BMC Medical Genetics 2018 19:116

    Content type: Research article

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  24. Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2. Congenital nephrogenic diabetes insipidus (NDI) is a rare X-lin...

    Authors: Yılmaz Kor, Minjing Zou, Roua A. Al-Rijjal, Dorota Monies, Brian F. Meyer and Yufei Shi

    Citation: BMC Medical Genetics 2018 19:115

    Content type: Case report

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  25. Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, resp...

    Authors: Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han and Qingliu Fu

    Citation: BMC Medical Genetics 2018 19:114

    Content type: Research article

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  26. Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion...

    Authors: Artur Beke, Henriett Piko, Iren Haltrich, Veronika Karcagi, Janos Rigo Jr., Maria Judit Molnar and György Fekete

    Citation: BMC Medical Genetics 2018 19:113

    Content type: Research article

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  27. Cisplatin is one of the major drugs that used in the treatment of osteosarcoma. Cisplatin exerts its function by making cisplatin-DNA adducts culminating in cellular death. These adducts found to be repaired b...

    Authors: Hadeel Obiedat, Nasr Alrabadi, Eyad Sultan, Marwa Al Shatti and Malek Zihlif

    Citation: BMC Medical Genetics 2018 19:112

    Content type: Research article

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  28. Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understandi...

    Authors: Zhiping Tan, Hui Zeng, Zhaofa Xu, Qi Tian, Xiaoyang Gao, Chuanman Zhou, Yu Zheng, Jian Wang, Guanghui Ling, Bing Wang, Yifeng Yang and Long Ma

    Citation: BMC Medical Genetics 2018 19:111

    Content type: Research article

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  29. Reduced nocturnal fall (non-dipping) of blood pressure (BP) is a predictor of cardiovascular target organ damage. No genome-wide association studies (GWAS) on BP dipping have been previously reported.

    Authors: Jenni M. Rimpelä, Ilkka H. Pörsti, Antti Jula, Terho Lehtimäki, Teemu J. Niiranen, Lasse Oikarinen, Kimmo Porthan, Antti Tikkakoski, Juha Virolainen, Kimmo K. Kontula and Timo P. Hiltunen

    Citation: BMC Medical Genetics 2018 19:110

    Content type: Research Article

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  30. Tay-Sachs disease (TSD) is a sphingolipid storage disorder caused by mutations in the HEXA gene. To date, nearly 170 mutations of HEXA have been described, including only one 7.6 kb large deletion.

    Authors: Jayesh Sheth, Mehul Mistri, Lakshmi Mahadevan, Sanjeev Mehta, Dhaval Solanki, Mahesh Kamate and Frenny Sheth

    Citation: BMC Medical Genetics 2018 19:109

    Content type: Research article

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  31. Single nucleotide polymorphisms (SNPs) located in the vascular endothelial growth factor (VEGF) gene may be correlated with the susceptibility to coronary artery disease (CAD) – although results have been cont...

    Authors: Wen-Qi Ma, Ying Wang, Xi-Qiong Han, Yi Zhu and Nai-Feng Liu

    Citation: BMC Medical Genetics 2018 19:108

    Content type: Research article

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  32. 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

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  33. Lynch syndrome (LS) is caused by mutations in DNA mismatch repair (MMR) genes, which accounts for 3–5% of colorectal cancer. The risks of several types of cancer are greatly increased among individuals with LS...

    Authors: Shuqin Jia, Meng Zhang, Yu Sun, Hai Yan, Fangping Zhao, Ziyu Li and Jiafu Ji

    Citation: BMC Medical Genetics 2018 19:106

    Content type: Case report

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  34. DFNB1, the first locus to have been associated with deafness, has two major genes GJB2 & GJB6, whose mutations have played vital role in hearing impairment across many ethnicities in the world. In our present stu...

    Authors: Pavithra Amritkumar, Justin Margret Jeffrey, Jayasankaran Chandru, Paridhy Vanniya S, M. Kalaimathi, Rajagopalan Ramakrishnan, N. P. Karthikeyen and C. R. Srikumari Srisailapathy

    Citation: BMC Medical Genetics 2018 19:105

    Content type: Research article

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  35. 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

    Content type: Case report

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  36. 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

    Content type: Case report

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  37. 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

    Content type: Research article

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  38. 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

    Content type: Case report

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  39. 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

    Content type: Research article

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  40. 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

    Content type: Research article

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  41. 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

    Content type: Research article

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  42. 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

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  43. 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

    Content type: Research article

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  44. 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

    Content type: Case report

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  45. 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

    Content type: Research article

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  46. 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

    Content type: Case report

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  47. 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

    Content type: Case report

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