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  1. Content type: Research article

    Mutations in the genes encoding leptin (LEP), the leptin receptor (LEPR), and the melanocortin 4 receptor (MC4R) are known to cause severe early-onset childhood obesity. The aim of the current study was to examin...

    Authors: Robina Khan Niazi, Anette P Gjesing, Mette Hollensted, Christian Theil Have, Niels Grarup, Oluf Pedersen, Asmat Ullah, Gulbin Shahid, Wasim Ahmad, Asma Gul and Torben Hansen

    Citation: BMC Medical Genetics 2018 19:199

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  2. Content type: Case report

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic renal disorder in humans, affecting 1 in 400 to 1000 individuals. Mutations PKD1 (which accounts for 85% of ADPKD and produces pol...

    Authors: Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao and Yuan Gao

    Citation: BMC Medical Genetics 2018 19:198

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  3. Content type: Case report

    TRRAP encodes a multidomain protein kinase that works as a genetic cofactor to influence DNA methylation patterns, DNA damage repair, and chromatin remodeling. TRRAP protein is vital to early neural developmental...

    Authors: Chrystal F. Mavros, Catherine A. Brownstein, Roshni Thyagrajan, Casie A. Genetti, Sahil Tembulkar, Kelsey Graber, Quinn Murphy, Kristin Cabral, Grace E. VanNoy, Matthew Bainbridge, Jiahai Shi, Pankaj B. Agrawal, Alan H. Beggs, Eugene D’Angelo and Joseph Gonzalez-Heydrich

    Citation: BMC Medical Genetics 2018 19:197

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  4. Content type: Research article

    IARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their cognate amino acid for translation. Recently, pathogenic IARS2 vari...

    Authors: Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti…

    Citation: BMC Medical Genetics 2018 19:196

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  5. Content type: Research article

    To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for n...

    Authors: Kirk Stephenson, Adrian Dockery, Niamh Wynne, Matthew Carrigan, Paul Kenna, G. Jane Farrar and David Keegan

    Citation: BMC Medical Genetics 2018 19:195

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  6. Content type: Research article

    The energy homeostasis-associated gene (ENHO), retinoid X receptor alpha gene (RXRA), and liver X receptor alpha gene (LXRA) are involved in adipogenic/lipogenic regulation. We investigated whether single-nucleot...

    Authors: Alicja E. Grzegorzewska, Leszek Niepolski, Monika K. Świderska, Adrianna Mostowska, Ireneusz Stolarek, Wojciech Warchoł, Marek Figlerowicz and Paweł P. Jagodziński

    Citation: BMC Medical Genetics 2018 19:194

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  7. Content type: Case report

    X-linked creatine transporter deficiency (OMIM#300036,CRTR-D) is characterized by cerebral creatine deficiency, intellectual disabilities, severe speech impairment, seizures and behavioral problems. Mutations ...

    Authors: Qin Wang, Jingxin Yang, Yang Liu, Xingping Li, Fuwei Luo and Jiansheng Xie

    Citation: BMC Medical Genetics 2018 19:193

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  8. Content type: Case report

    Autism spectrum disorder (ASD) is a neurodevelopmental disorder in which genetics plays a key aetiological role. The gene encoding NAD(P)H steroid dehydrogenase-like protein (NSDHL) is expressed in developing cor...

    Authors: Chun-Chun Hu, Yun-Jun Sun, Chun-xue Liu, Bing-rui Zhou, Chun-yang Li, Qiong Xu and Xiu Xu

    Citation: BMC Medical Genetics 2018 19:192

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  9. Content type: Research article

    MEF2C (Myocyte-specific enhancer factor 2C) has been associated with neurodevelopmental disorders. This study aimed at delineating the clinical profiles of MEF2C gene mutations.

    Authors: Jiaping Wang, Qingping Zhang, Yan Chen, Shujie Yu, Xiru Wu, Xinhua Bao and Yongxin Wen

    Citation: BMC Medical Genetics 2018 19:191

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  10. Content type: Research article

    Individuals of African ethnicity are disproportionately burdened with chronic kidney disease (CKD). However, despite the genetic link, genetic association studies of CKD in African populations are lacking.

    Authors: Cindy George, Yandiswa Y Yako, Ikechi G Okpechi, Tandi E Matsha, Francois J. Kaze Folefack and Andre P Kengne

    Citation: BMC Medical Genetics 2018 19:187

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  11. Content type: Research article

    Currently, several studies have demonstrated that PRKAA1 polymorphisms conduce to the development of cancer. PRKAA1 gene encodes the AMP-activated protein kinase summit-α1, and plays an important role in cell met...

    Authors: Jialin Meng, Xinyao Fan, Meng Zhang, Zongyao Hao and Chaozhao Liang

    Citation: BMC Medical Genetics 2018 19:189

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  12. Content type: Case report

    Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary syndrome characterised by the development of hundreds to thousands of adenomatous colonic polyps during the second decade of life. FAP i...

    Authors: Hoa Giang, Vu T Nguyen, Sinh D Nguyen, Huu-Phuc Nguyen, Binh T Vo, Truc M Nguyen, Nguyen H Nguyen, Kiet D Truong, Thanh-Thuy T Do, Minh-Duy Phan and Hoai-Nghia Nguyen

    Citation: BMC Medical Genetics 2018 19:188

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  13. Content type: Research article

    Autosomal dominant polycystic kidney disease (ADPKD), the commonest inherited kidney disease, is generally caused by heterozygous mutations in PKD1, PKD2, or GANAB (PKD3).

    Authors: Wen-Bin He, Wen-Juan Xiao, Yue-Qiu Tan, Xiao-Meng Zhao, Wen Li, Qian-Jun Zhang, Chang-Gao Zhong, Xiu-Rong Li, Liang Hu, Guang-Xiu Lu, Ge Lin and Juan Du

    Citation: BMC Medical Genetics 2018 19:186

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  14. Content type: Case report

    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

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  15. Content type: Research article

    Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (G...

    Authors: Anna Caciotti, Rodolfo Tonin, Matthew Mort, David N. Cooper, Serena Gasperini, Miriam Rigoldi, Rossella Parini, Federica Deodato, Roberta Taurisano, Michelina Sibilio, Giancarlo Parenti, Renzo Guerrini and Amelia Morrone

    Citation: BMC Medical Genetics 2018 19:183

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  16. Content type: Case report

    Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other gene...

    Authors: Mari Wold Henriksen, Kirstine Ravn, Benedicte Paus, Stephen von Tetzchner and Ola H Skjeldal

    Citation: BMC Medical Genetics 2018 19:184

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  17. Content type: Technical advance

    Preterm premature rupture of membranes (PPROM) is the leading identifiable cause of preterm birth, a complication that is more common in African Americans. Attempts to identify genetic loci associated with pre...

    Authors: Bhavi P. Modi, Hardik I. Parikh, Maria E. Teves, Rewa Kulkarni, Jiang Liyu, Roberto Romero, Timothy P. York and Jerome F. Strauss III

    Citation: BMC Medical Genetics 2018 19:181

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  18. Content type: Research article

    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

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  19. Content type: Correspondence

    In this comment, we highlight that the IDUA pathogenic variants 704ins5 and c.613_617dupTGCTC are the same, but have different names depending on the nomenclature guideline used. Therefore, the frequency of this ...

    Authors: Edina Poletto, Ursula Matte and Guilherme Baldo

    Citation: BMC Medical Genetics 2018 19:180

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  20. Content type: Research article

    Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we describe our ...

    Authors: Shan Li, Yi You, Jinsong Gao, Bin Mao, Yixuan Cao, Xiuli Zhao and Xue Zhang

    Citation: BMC Medical Genetics 2018 19:179

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  21. Content type: Research article

    Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells’ lysosomes. A beta-Glucosidase (GBA) gene defect results in g...

    Authors: Jayesh Sheth, Dhairya Pancholi, Mehul Mistri, Payal Nath, Chitra Ankleshwaria, Riddhi Bhavsar, Ratna Puri, Shubha Phadke and Frenny Sheth

    Citation: BMC Medical Genetics 2018 19:178

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  22. Content type: Case report

    Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage disorders characterized by seizures, motor impairment, and loss of vision. Ceroid lipofuscinosis (CLN) gene mutations are the cause, but NCL cases ar...

    Authors: Guilian Sun, Fang Yao, Zhuoling Tian, Tianjiao Ma and Zhiliang Yang

    Citation: BMC Medical Genetics 2018 19:177

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  23. Content type: Research article

    Hereditary cancer screening (HCS) for germline variants in the 3′ exons of PMS2, a mismatch repair gene implicated in Lynch syndrome, is technically challenging due to homology with its pseudogene PMS2CL. Sequenc...

    Authors: Genevieve M Gould, Peter V Grauman, Mark R Theilmann, Lindsay Spurka, Irving E Wang, Laura M Melroy, Robert G Chin, Dustin H Hite, Clement S Chu, Jared R Maguire, Gregory J Hogan and Dale Muzzey

    Citation: BMC Medical Genetics 2018 19:176

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  24. Content type: Research article

    We recently identified a role for the muscle-specific ubiquitin ligase MuRF1 in right-sided heart failure secondary to pulmonary hypertension induced by chronic hypoxia (CH). MuRF1−/− mice exposed to CH are re...

    Authors: Robert H. Oakley, Matthew J. Campen, Michael L. Paffett, Xin Chen, Zhongjing Wang, Traci L. Parry, Carolyn Hillhouse, John A. Cidlowski and Monte S. Willis

    Citation: BMC Medical Genetics 2018 19:175

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  25. Content type: Research article

    The study investigated the associations of rs9340799:A > G (XbaI) and rs2234693:T > C (PvuII) polymorphisms in the estrogen receptor 1 gene (ESR1) with femoral neck (BMD-FN) and lumbar spine bone mineral density ...

    Authors: Vladimira Mondockova, Maria Adamkovicova, Martina Lukacova, Birgit Grosskopf, Ramona Babosova, Drahomir Galbavy, Monika Martiniakova and Radoslav Omelka

    Citation: BMC Medical Genetics 2018 19:174

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  26. Content type: Case report

    Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in any organ systems. Mutations in the TSC1 or TSC2 gene lead to the dysfunction of hamartin or tuberin proteins, whi...

    Authors: Ruixiao Zhang, Jianhong Wang, Qing Wang, Yue Han, Xuejun Liu, Irene Bottillo, Yanhua Lang and Leping Shao

    Citation: BMC Medical Genetics 2018 19:173

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  27. Content type: Research article

    Single-nucleotide polymorphism (SNP) haplotype and SNP-SNP interactions of CTLA-4 and CD40 genes, with susceptibility to Graves’ disease (GD), were explored in a Chinese Han population.

    Authors: Xiaoming Chen, Zhuoqing Hu, Meilian Liu, Huaqian Li, Chanbo Liang, Wei Li, Liwen Bao, Manyang Chen and Ge Wu

    Citation: BMC Medical Genetics 2018 19:171

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  28. Content type: Case report

    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

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  29. Content type: Research article

    Noise induced hearing loss (NIHL) is a polygenic disease involving both genetic and environmental factors, and is one of the most important occupational health hazards worldwide. To date, the influence of Notc...

    Authors: Enmin Ding, Jing Liu, Huanxi Shen, Wei Gong, Hengdong Zhang, Haiyan Song and Baoli Zhu

    Citation: BMC Medical Genetics 2018 19:168

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  30. Content type: Research article

    Nectins are cell adhesion molecules that play a pivotal role in adherens junctions and tight junctions. Our previous study using whole-genome oligonucleotide microarrays revealed that nectin-4 was upregulated ...

    Authors: Mayuko Ito, Haruki Nishizawa, Makiko Tsutsumi, Asuka Kato, Yoshiko Sakabe, Yoshiteru Noda, Akiko Ohwaki, Jun Miyazaki, Takema Kato, Kazuya Shiogama, Takao Sekiya, Hiroki Kurahashi and Takuma Fujii

    Citation: BMC Medical Genetics 2018 19:166

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  31. Content type: Research article

    Several studies have assessed the association between GDF5 rs143383 polymorphism and the susceptibility of musculoskeletal degenerative diseases, such as intervertebral disc degeneration (IDD) and osteoarthrit...

    Authors: Xin Huang, Weiyue Zhang and Zengwu Shao

    Citation: BMC Medical Genetics 2018 19:169

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  32. Content type: Case report

    L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare organic aciduria neurometabolic disease that is inherited as an autosomal recessive mode and have a variety of symptoms, such as psychomotor developmental retar...

    Authors: Wei Peng, Xiu-Wei Ma, Xiao Yang, Wan-Qiao Zhang, Lei Yan, Yong-Xia Wang, Xin Liu, Yan Wang and Zhi-Chun Feng

    Citation: BMC Medical Genetics 2018 19:167

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  33. Content type: Research article

    Ankylosing spondylitis (AS) results from the combined effects of susceptibility genes and environmental factors. Polymorphisms in genes regulating inflammation may explain part of the heritability of AS.

    Authors: Jacob Sode, Steffen Bank, Ulla Vogel, Paal Skytt Andersen, Signe Bek Sørensen, Anders Bo Bojesen, Malene Rohr Andersen, Ivan Brandslund, Ram Benny Dessau, Hans Jürgen Hoffmann, Bente Glintborg, Merete Lund Hetland, Henning Locht, Niels Henrik Heegaard and Vibeke Andersen

    Citation: BMC Medical Genetics 2018 19:165

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  34. Content type: Case report

    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

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  35. Content type: Case report

    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

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  36. Content type: Research article

    Cockayne Syndrome (CS) is a rare autosomal recessive disorder characterized by neurological and sensorial impairment, dwarfism, microcephaly and photosensitivity. CS is caused by mutations in ERCC6 (CSB) or ERCC8...

    Authors: Alain Chebly, Sandra Corbani, Joelle Abou Ghoch, Cybel Mehawej, André Megarbane and Eliane Chouery

    Citation: BMC Medical Genetics 2018 19:161

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  37. Content type: Research article

    Autosomal recessive anophthalmia and microphthalmia are rare developmental eye defects occurring during early fetal development. Syndromic and non-syndromic forms of anophthalmia and microphthalmia demonstrate...

    Authors: Siying Lin, Gaurav V. Harlalka, Abdul Hameed, Hadia Moattar Reham, Muhammad Yasin, Noor Muhammad, Saadullah Khan, Emma L. Baple, Andrew H. Crosby and Shamim Saleha

    Citation: BMC Medical Genetics 2018 19:160

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  38. Content type: Case report

    Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typ...

    Authors: Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M. Girisha, Iva Hojsak, Bart Loeys and Aline Verstraeten

    Citation: BMC Medical Genetics 2018 19:140

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  39. Content type: Research article

    The rupture of a brain aneurysm causes bleeding in the subarachnoid space and is known as aneurysmal subarachnoid haemorrhage (aSAH). In our study, we evaluated the association of factor XIII polymorphism and the...

    Authors: Arati Suvatha, M. K. Sibin, Dhananjaya I. Bhat, K. V. L. Narasingarao, Vikas Vazhayil and G. K. Chetan

    Citation: BMC Medical Genetics 2018 19:159

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  40. Content type: Research article

    Many X-linked non-syndromic hearing loss (HL) cases are caused by various mutations in the POU domain class 3 transcription factor 4 (POU3F4) gene. This study aimed to identify allelic variants of this gene in tw...

    Authors: Yu Su, Xue Gao, Sha-Sha Huang, Jing-Ning Mao, Bang-Qing Huang, Jian-Dong Zhao, Dong-Yang Kang, Xin Zhang and Pu Dai

    Citation: BMC Medical Genetics 2018 19:157

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  41. Content type: Case report

    Scientists have previously described an overgrowth syndrome in Saudi patients and named it ‘Upper limb muscle overgrowth with hypoplasia of the index finger’ syndrome.

    Authors: Mohammad M. Al-Qattan, Ali Hadadi, Abdullah M. Al-Thunayan, Ahmed A. Eldali and Mohammed A. AlBalwi

    Citation: BMC Medical Genetics 2018 19:158

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  42. Content type: Case report

    Larsen syndrome is a hereditary disorder characterized by osteochondrodysplasia, congenital large-joint dislocations, and craniofacial abnormalities. The autosomal dominant type is caused by mutations in the g...

    Authors: N. Riise, B. R. Lindberg, M. A. Kulseth, S. O. Fredwall, R. Lundby, M.-E. Estensen, L. Drolsum, E. Merckoll, K. Krohg-Sørensen and B. Paus

    Citation: BMC Medical Genetics 2018 19:155

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  43. Content type: Research article

    Genetic and environmental factors play a crucial role in the development of type 2 diabetes mellitus (T2DM) and obesity. This study aimed to investigate the association of the fat-mass and obesity-associated g...

    Authors: Anas Sabarneh, Suheir Ereqat, Stéphane Cauchi, Omar AbuShamma, Mohammad Abdelhafez, Murad Ibrahim and Abdelmajeed Nasereddin

    Citation: BMC Medical Genetics 2018 19:156

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  44. Content type: Research article

    Previous studies have reported that the potassium voltage-gated channel subfamily Q member 1 (KCNQ1) gene is associated with diabetes in both European and Asian population. This study aims to find a predictable s...

    Authors: Yafei Liu, Chunxia Wang, Yafei Chen, Zhongshang Yuan, Tao Yu, Wenchao Zhang, Fang Tang, Jianhua Gu, Qinqin Xu, Xiaotong Chi, Lijie Ding, Fuzhong Xue and Chengqi Zhang

    Citation: BMC Medical Genetics 2018 19:153

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  45. Content type: Research article

    We sought to analyse MMACHC variants among 126 pedigrees with cobalamin (cbl) C deficiency and combined methylmalonic aciduria and homocystinuria by Sanger sequencing, characterize the spectrum of MMACHC gene var...

    Authors: Shuang Hu, Shiyue Mei, Ning Liu and Xiangdong Kong

    Citation: BMC Medical Genetics 2018 19:154

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  46. Content type: Case report

    Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treat...

    Authors: Kye Hee Cho, Sung Han Shim, Youngsoo Jung, Se Ra Sung and MinYoung Kim

    Citation: BMC Medical Genetics 2018 19:152

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  47. Content type: Case report

    Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, v...

    Authors: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov and Valery Vladimirovich Ilinsky

    Citation: BMC Medical Genetics 2018 19:151

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