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  1. Content type: Case report

    Glycogen storage disease type I (GSD I), also known as von Gierk disease, is a metabolic disorder leading to the excessive accumulation of glycogen and fat in organs, characterized by hepatomegaly, hypoglycemi...

    Authors: Wenying Wang, Rentao Yu, Wenting Tan, Yunjie Dan, Guohong Deng and Jie Xia

    Citation: BMC Medical Genetics 2019 20:85

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  2. Content type: Case report

    Progressive bilateral sensorineural deafness in postlingual period may be linked to many different etiologies including genetic factors. Identification of the exact deafness cause may, therefore, be quite chal...

    Authors: Lukas Varga, Daniel Danis, Martina Skopkova, Ivica Masindova, Zuzana Slobodova, Lucia Demesova, Milan Profant and Daniela Gasperikova

    Citation: BMC Medical Genetics 2019 20:84

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  3. Content type: Research article

    The association between the vitamin D receptor (VDR) gene and gestational diabetes mellitus (GDM) has not been investigated in Turkish pregnant women. We aimed to investigate associations between VDR gene BsmI (r...

    Authors: Mahmut Apaydın, Selvihan Beysel, Nilnur Eyerci, Ferda Alparslan Pinarli, Mustafa Ulubay, Muhammed Kizilgul, Ozhan Ozdemir, Mustafa Caliskan and Erman Cakal

    Citation: BMC Medical Genetics 2019 20:82

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  4. Content type: Research article

    The prevalence of CGG repeat expansion mutation in FMR1 gene varies among different populations. In this study, we investigated the prevalence of this mutation in women of reproductive age from northern China.

    Authors: Yinan Ma, Xing Wei, Hong Pan, Songtao Wang, Xin Wang, Xiaowei Liu, Liying Zou, Xiaomei Wang, Xiaorong Wang, Hua Yang, Fengying Wang, Kefang Wang, Lifang Sun, Xiaolin Qiao, Yue Yang, Xiuhua Ma…

    Citation: BMC Medical Genetics 2019 20:81

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  5. Content type: Research article

    Intellectual disability/developmental delay is a complex condition with extraordinary heterogeneity. A large proportion of patients lacks a specific diagnosis. Next generation sequencing, enabling identificati...

    Authors: Huifang Yan, Zhen Shi, Ye Wu, Jiangxi Xiao, Qiang Gu, Yanling Yang, Ming Li, Kai Gao, Yinyin Chen, Xiaoping Yang, Haoran Ji, Binbin Cao, Ruoyu Duan, Yuwu Jiang and Jingmin Wang

    Citation: BMC Medical Genetics 2019 20:80

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  6. Content type: Research article

    The X-ray repair cross-complementing group 3 (XRCC3) is an efficient component of homologous recombination and is required for the preservation of chromosomal integrity in mammalian cells. The association between...

    Authors: Sepideh Dashti, Zahra Taherian-Esfahani, Abbasali Keshtkar and Soudeh Ghafouri-Fard

    Citation: BMC Medical Genetics 2019 20:79

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  7. Content type: Case report

    Few manuscripts have reported phenotypes of skeletal muscle myopathies caused by mutations in the head region of slow/cardiac beta-myosin heavy chain (MyHCI). Among the patients, some of them showed the phenot...

    Authors: Jean Mamelona, Louisa Filice, Youcef Oussedik, Nicolas Crapoulet, Rodney J. Ouellette and Alier Marrero

    Citation: BMC Medical Genetics 2019 20:78

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  8. Content type: Case report

    Mitochondrial respiratory chain consists of five complexes encoded by nuclear and mitochondrial genomes. Mitochondrial aminoacyl-tRNA synthetases are key enzymes in the synthesis of such complexes. Bi-allelic ...

    Authors: Chiara Begliuomini, Giorgio Magli, Maja Di Rocco, Filippo M. Santorelli, Denise Cassandrini, Claudia Nesti, Federica Deodato, Daria Diodato, Susanna Casellato, Delia M. Simula, Veronica Dessì, Anna Eusebi, Alessandra Carta and Stefano Sotgiu

    Citation: BMC Medical Genetics 2019 20:77

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  9. Content type: Case report

    Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by motor, sensory, and cranial neuronopathies, is mainly associated with defective riboflavin transporters encoded by SLC52...

    Authors: Kaili Shi, Zhen Shi, Huifang Yan, Xiaodong Wang, Yanling Yang, Hui Xiong, Qiang Gu, Ye Wu, Yuwu Jiang and Jingmin Wang

    Citation: BMC Medical Genetics 2019 20:76

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  10. Content type: Case report

    Hereditary colon cancer is characterized by the inheritance of an abnormal gene mutation which predisposes to malignancy. Recent advances in genomic medicine have identified mutations in “novel” genes as confe...

    Authors: Mir Ali, Celia Dawn Delozier and Uzair Chaudhary

    Citation: BMC Medical Genetics 2019 20:75

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  11. Content type: Research article

    α-thalassaemia is an inherited blood disorder caused by mutations in the α-globin gene cluster. Recognizing the pathogenic α-globin gene mutations associated with α-Thalassemia is of significant importance to ...

    Authors: Jianlong Zhuang, Jie Tian, Jitao Wei, Yu Zheng, Qianmei Zhuang, Yuanbai Wang, Qingyue Xie, Shuhong Zeng, Geng Wang, Yanchao Pan and Yuying Jiang

    Citation: BMC Medical Genetics 2019 20:74

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  12. Content type: Research article

    Pathogenic variants associated with hereditary breast cancer have been reported for BRCA1 and BRCA2 (BRCA1/2) genes in patients from multiple ethnicities, but limited information is available from sub-Saharan Afr...

    Authors: Jean Pascal Demba Diop, Rokhaya Ndiaye Diallo, Violaine Bourdon-Huguenin, Ahmadou Dem, Doudou Diouf, Mamadou Moustapha Dieng, Seydi Abdoul Ba, Yacouba Dia, Sidy Ka, Babacar Mbengue, Alassane Thiam, Oumar Faye, Papa Amadou Diop, Hagay Sobol and Alioune Dieye

    Citation: BMC Medical Genetics 2019 20:73

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  13. Content type: Research article

    Genome wide association study (GWAS) has become the major means to screen for the genetic variants associated with risk and prognosis of different diseases. A recent GWAS has discovered three novel intronic si...

    Authors: Jiru Wang, Qiuzi Wang, Bin Wei, Yu Zhou, Zhaoye Qian, Yong Gao and Xiaofei Chen

    Citation: BMC Medical Genetics 2019 20:72

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  14. Content type: Research article

    Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular ab...

    Authors: Xiaoyi Yan, Jie Lin, Yifan Wang, Junli Xuan, Ping Yu, Tingwei Guo and Fan Jin

    Citation: BMC Medical Genetics 2019 20:71

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  15. Content type: Case report

    X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) is a skeletal disorder characterized by defective structures of vertebral bodies and/or of epiphyses of the long bones, resulting in moderately short statu...

    Authors: Joon Yeon Won, Dayeon Kim, Seon Young Park, Hye Ran Lee, Jong-Seok Lim, Jong Hoon Park, Mi Hyun Song, Hae Ryong Song, Ok-Hwa Kim, Yonghwan Kim and Tae-Joon Cho

    Citation: BMC Medical Genetics 2019 20:70

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  16. Content type: Research article

    Although familial clustering of cancers is relatively common, only a small proportion of familial cancer risk can be explained by known cancer predisposition genes.

    Authors: Rachel M. Jones, Phillip E. Melton, Mark Pinese, Alexander J. Rea, Evan Ingley, Mandy L. Ballinger, David J. Wood, David M. Thomas and Eric K. Moses

    Citation: BMC Medical Genetics 2019 20:69

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  17. Content type: Research article

    Usher syndrome, the most common form of inherited deaf-blindness, is unlike many other forms of syndromic hereditary hearing loss in that the extra aural clinical manifestations are also detrimental to communi...

    Authors: Justin A. Pater, Jane Green, Darren D. O’Rielly, Anne Griffin, Jessica Squires, Taylor Burt, Sara Fernandez, Bridget Fernandez, Jim Houston, Jiayi Zhou, Nicole M. Roslin and Terry-Lynn Young

    Citation: BMC Medical Genetics 2019 20:68

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  18. Content type: Case report

    Lynch syndrome, is an autosomal dominantly inherited disease that predisposes individuals to a high risk of colorectal cancers, and some mismatch-repair genes have been identified as causative genes. The purpo...

    Authors: Tomoyuki Momma, Kenji Gonda, Yoshinori Akama, Eisei Endo, Daisuke Ujiie, Shotaro Fujita, Yuko Maejima, Shoichiro Horita, Kenju Shimomura, Shigehira Saji, Koji Kono, Rei Yashima, Fumiaki Watanabe, Kokichi Sugano and Tadashi Nomizu

    Citation: BMC Medical Genetics 2019 20:67

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  19. Content type: Case report

    Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene. The IDS gene encodes a lysosomal enzyme, iduronate 2-sulfatase. The disea...

    Authors: A. N. Semyachkina, E. Y. Voskoboeva, E. Y. Zakharova, E. A. Nikolaeva, I. V. Kanivets, A. D. Kolotii, G. V. Baydakova, M. N. Kharabadze, R. G. Kuramagomedova and N. V. Melnikova

    Citation: BMC Medical Genetics 2019 20:66

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  20. Content type: Research article

    Mutations in the coding region of FOXP2 are known to cause speech and language impairment. However, it is not clear how dysregulation of the gene contributes to language deficit. Interestingly, microdeletions of ...

    Authors: Raúl Torres-Ruiz, Antonio Benítez-Burraco, Marta Martínez-Lage, Sandra Rodríguez-Perales and Paloma García-Bellido

    Citation: BMC Medical Genetics 2019 20:65

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  21. Content type: Case report

    GATA2 is a transcription factor that is a critical regulator of gene expression in hematopoietic cells. GATA2 deficiency presents with multi-lineage cytopenia, mycobacterial, fungal and viral infections. Patie...

    Authors: Daniela Palheiro Mendes-de-Almeida, Francianne Gomes Andrade, Gustavo Borges, Filipe V. dos Santos-Bueno, Iracema F. Vieira, Luana Kelly M. da S. da Rocha, Daniella A. Mendes-da-Cruz, Rosely M. Zancopé-Oliveira, Rodrigo T. Calado and Maria S. Pombo-de-Oliveira

    Citation: BMC Medical Genetics 2019 20:64

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  22. Content type: Research article

    We performed clinical and genetic characterization of a family with cavitary optic disc anomaly (CODA), an autosomal dominant condition that causes vision loss due to adult-onset maculopathy in the majority of...

    Authors: Eileen S. Hwang, Denise J. Morgan, Katie L. Pennington, Leah A. Owen, John H. Fingert, Paul S. Bernstein and Margaret M. DeAngelis

    Citation: BMC Medical Genetics 2019 20:63

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  23. Content type: Research

    CpG island methylator phenotype (CIMP) is found in 15–20% of malignant colorectal tumors and is characterized by strong CpG hypermethylation over the genome. The molecular mechanisms of this phenomenon are not...

    Authors: Maria S. Fedorova, George S. Krasnov, Elena N. Lukyanova, Andrew R. Zaretsky, Alexey A. Dmitriev, Nataliya V. Melnikova, Alexey A. Moskalev, Sergey L. Kharitonov, Elena A. Pudova, Zulfiya G. Guvatova, Anastasiya A. Kobelyatskaya, Irina A. Ishina, Elena N. Slavnova, Anastasia V. Lipatova, Maria A. Chernichenko, Dmitry V. Sidorov…

    Citation: BMC Medical Genetics 2019 20(Suppl 1):52

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    This article is part of a Supplement: Volume 20 Supplement 1

  24. Content type: Research

    Population structure is an important factor in the genetic association studies but often remains underexplored for many human populations. We identified exome variants in 39 Siberian Caucasian individuals from...

    Authors: Andrey A. Yurchenko, Nikolai S. Yudin and Mikhail I. Voevoda

    Citation: BMC Medical Genetics 2019 20(Suppl 1):51

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    This article is part of a Supplement: Volume 20 Supplement 1

  25. Content type: Research

    Estrogen deficiency effects on affective-related behavior are restricted to certain periods of age after ovary removal. Among other nutraceuticals, one of such «natural» substances for treatment of affective-r...

    Authors: Julia O. Fedotova

    Citation: BMC Medical Genetics 2019 20(Suppl 1):49

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    This article is part of a Supplement: Volume 20 Supplement 1

  26. Content type: Research

    Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from the paraganglion at the bifurcation of the carotid artery and are responsible for approximately 65% of all head and neck paragangli...

    Authors: Anastasiya V. Snezhkina, Elena N. Lukyanova, Andrew R. Zaretsky, Dmitry V. Kalinin, Anatoly V. Pokrovsky, Alexander L. Golovyuk, George S. Krasnov, Maria S. Fedorova, Elena A. Pudova, Sergey L. Kharitonov, Nataliya V. Melnikova, Boris Y. Alekseev, Marina V. Kiseleva, Andrey D. Kaprin, Alexey A. Dmitriev and Anna V. Kudryavtseva

    Citation: BMC Medical Genetics 2019 20(Suppl 1):48

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    This article is part of a Supplement: Volume 20 Supplement 1

  27. Content type: Research

    Hyperprolactinemia (HPRL) is a classical side effect of antipsychotic drugs primarily attributed to blockade of dopamine D2 receptors (DRD2s) on the membranes of lactotroph cells within the pituitary gland. Ce...

    Authors: Diana Z. Osmanova, Maxim B. Freidin, Olga Yu. Fedorenko, Ivan V. Pozhidaev, Anastasiia S. Boiko, Natalia M. Vyalova, Vladimir V. Tiguntsev, Elena G. Kornetova, Anton J. M. Loonen, Arkadiy V. Semke, Bob Wilffert, Nikolay A. Bokhan and Svetlana A. Ivanova

    Citation: BMC Medical Genetics 2019 20(Suppl 1):47

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    This article is part of a Supplement: Volume 20 Supplement 1

  28. Content type: Case report

    Reports on autosomal recessive optic atrophy (arOA) are sparse and so far, only one gene has been specifically associated with non-syndromic arOA, namely TMEM126A. To date, all reports of pathogenic TMEM126A vari...

    Authors: Katja Kloth, Matthis Synofzik, Christoph Kernstock, Simone Schimpf-Linzenbold, Frank Schuettauf, Axel Neu, Bernd Wissinger and Nicole Weisschuh

    Citation: BMC Medical Genetics 2019 20:62

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  29. Content type: Case report

    Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form.

    Authors: Malena P. Pantou, Polyxeni Gourzi, Aggeliki Gkouziouta, Iakovos Armenis, Loukas Kaklamanis, Christianna Zygouri, Pantelis Constantoulakis, Stamatis Adamopoulos and Dimitrios Degiannis

    Citation: BMC Medical Genetics 2019 20:61

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  30. Content type: Research article

    MYO15A variants are responsible for human non-syndromic autosomal recessive deafness (DFNB3). The majority of MYO15A variants are associated with a congenital severe-to-profound hearing loss phenotype, except for...

    Authors: Jing Zhang, Jing Guan, Hongyang Wang, Linwei Yin, Dayong Wang, Lidong Zhao, Huifang Zhou and Qiuju Wang

    Citation: BMC Medical Genetics 2019 20:60

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  31. Content type: Research article

    Several studies have focused on the association between KIF1B rs17401966 polymorphism and susceptibility to hepatitis B virus-related (HBV-related) hepatocellular carcinoma (HCC), but the conclusions have been...

    Authors: Ying-ying Luo, Hong-peng Zhang, Ai-long Huang and Jie-li Hu

    Citation: BMC Medical Genetics 2019 20:59

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  32. Content type: Research article

    The chitinase-like protein YKL-40 plays a major role in inhibiting the inflammasome. Deregulation of inflammasome activation is emerging as a key modulator of pathologic airway inflammation in patients with as...

    Authors: Jun Kanazawa, Haruna Kitazawa, Hironori Masuko, Yohei Yatagai, Tohru Sakamoto, Yoshiko Kaneko, Hiroaki Iijima, Takashi Naito, Takefumi Saito, Emiko Noguchi, Satoshi Konno, Masaharu Nishimura, Tomomitsu Hirota, Mayumi Tamari and Nobuyuki Hizawa

    Citation: BMC Medical Genetics 2019 20:58

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  33. Content type: Case report

    Many mutations in the α-tectorin gene (TECTA) have been reported to cause non-syndromic hearing loss (NSHL) in either a dominant or recessive inheritance pattern. Among the identified TECTA mutations, H1400Y has ...

    Authors: Gi-Sung Nam, John Hoon Rim, Jae Young Choi, Heon Yung Gee, Jong Rak Choi, Seung-Tae Lee and Jinsei Jung

    Citation: BMC Medical Genetics 2019 20:57

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  34. Content type: Case report

    PHKA2 gene mutations can cause liver phosphorylase kinase (PhK) deficiency, resulting in glycogen storage disease type IXa (GSD IXa). Elevated liver transaminase levels and liver enlargement are the most frequent...

    Authors: Junling Fu, Tong Wang and Xinhua Xiao

    Citation: BMC Medical Genetics 2019 20:56

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  35. Content type: Research article

    RNF213 rare variant-p.R4810K (rs112735431) was significantly associated with intracranial artery stenosis/occlusion disease (ICASO) in Japan and Korea and to a lesser degree in China. Considering the allelic hete...

    Authors: Xin Liao, Tong Zhang, Bingyang Li, Shimin Hu, Junyu Liu, Jing Deng, Hongzhuan Tan and Junxia Yan

    Citation: BMC Medical Genetics 2019 20:55

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  36. Content type: Research article

    Primary cutaneous malignant melanoma is a cancer of the pigment cells of the skin, some of which are accompanied by BRAF mutation. Melanoma incidence and mortality rates have been rising around the world. As the ...

    Authors: Bin Zhao, Yanqiu You, Zheng Wan, Yunhan Ma, Yani Huo, Hongyi Liu, Yuanyuan Zhou, Wei Quan, Weibin Chen, Xiaohong Zhang, Fujun Li and Yilin Zhao

    Citation: BMC Medical Genetics 2019 20:54

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  37. Content type: Research article

    Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene. Although ...

    Authors: Ben Pode-Shakked, Asaf Vivante, Ortal Barel, Shai Padeh, Dina Marek-Yagel, Alvit Veber, Shachar Abudi, Aviva Eliyahu, Irit Tirosh, Shiri Shpilman, Shirlee Shril, Friedhelm Hildebrandt, Mordechai Shohat and Yair Anikster

    Citation: BMC Medical Genetics 2019 20:53

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  38. Content type: Case report

    DNA double-strand breaks (DSBs) are among the most deleterious types of DNA damage. DSBs are repaired by homologous recombination or non-homologous end-joining (NHEJ). NHEJ, which is central to the process of ...

    Authors: Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Zahra Hojaji, Parham Habibzadeh, Dorna Afshinfar, Mohammad Miryounesi, Majid Fardaei and Mohammad Ali Faghihi

    Citation: BMC Medical Genetics 2019 20:45

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  39. Content type: Research article

    Cystic fibrosis (CF; OMIM #219700) is a common autosomal recessive disease caused by pathogenic variants (henceforward mutations) in the cystic fibrosis transmembrane conductance regulator gene (CFTR). The spectr...

    Authors: N. V. Petrova, N. Y. Kashirskaya, D. K. Saydaeva, A. V. Polyakov, T.A. Adyan, O. I. Simonova, Y. V. Gorinova, E. I. Kondratyeva, V. D. Sherman, O. G. Novoselova, T. A. Vasilyeva, A. V. Marakhonov, M. Macek Jr, E. K. Ginter and R. A. Zinchenko

    Citation: BMC Medical Genetics 2019 20:44

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  40. Content type: Research article

    To investigate the clinical features and the underlying causal gene of a family with hereditary late-onset deafness in Inner Mongolia of China, and to provide evidence for the early genetic screening and diagn...

    Authors: Ningjin Wu, Husile Husile, Liqing Yang, Yaning Cao, Xing Li, Wenyan Huo, Haihua Bai, Yangjian Liu and Qizhu Wu

    Citation: BMC Medical Genetics 2019 20:43

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  41. Content type: Research article

    Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subc...

    Authors: Qi Fan, Dan Li, Lei Cai, Xiaodi Qiu, Zhennan Zhao, Jihong Wu, Jin Yang and Yi Lu

    Citation: BMC Medical Genetics 2019 20:42

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  42. Content type: Case report

    Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported.

    Authors: Naihong Yan, Lirong Xiao, Chen Hou, Bo Guo, Wei Fan, Yingping Deng and Ke Ma

    Citation: BMC Medical Genetics 2019 20:41

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  43. Content type: Case report

    Hyperekplexia also known as Startle disease is a rare neuromotor hereditary disorder characterized by exaggerated startle responses to unexpected auditory, tactile, and visual stimuli and generalized muscle st...

    Authors: Teresa Sprovieri, Carmine Ungaro, Serena Sivo, Michela Quintiliani, Ilaria Contaldo, Chiara Veredice, Luigi Citrigno, Maria Muglia, Francesca Cavalcanti, Sebastiano Cavallaro, Eugenio Mercuri and Domenica Battaglia

    Citation: BMC Medical Genetics 2019 20:40

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  44. Content type: Research article

    Traditional and novel risk factors cannot sufficiently explain the differential susceptibility to cardiovascular disease (CVD). Epigenetics may serve to partially explain this residual disparity, with life cou...

    Authors: Elena M. Vidrascu, Alexander C. Bashore, Timothy D. Howard and Justin B. Moore

    Citation: BMC Medical Genetics 2019 20:39

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  45. Content type: Research article

    HIF1A (Hypoxia-Inducible-Factor 1A) expression in solid tumors is relevant to establish resistance to therapeutic approaches. The use of compounds direct against hypoxia signaling and HIF1A does not show clini...

    Authors: Flora Cimmino, Marianna Avitabile, Vito Alessandro Lasorsa, Annalaura Montella, Lucia Pezone, Sueva Cantalupo, Feliciano Visconte, Maria Valeria Corrias, Achille Iolascon and Mario Capasso

    Citation: BMC Medical Genetics 2019 20:37

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  46. Content type: Research article

    Acute chorioamnionitis (aCA), inflammation of the placenta and fetal membranes, is a frequently reported lesion in preterm deliveries. Genetic variants in innate immune system genes such as Interleukin-6 (IL6) ma...

    Authors: Chaini Konwar, Giulia F. Del Gobbo, Jefferson Terry and Wendy P. Robinson

    Citation: BMC Medical Genetics 2019 20:36

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