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  1. 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
    Content type: Research Published on:

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

  2. Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypert...

    Authors: Patrizia Dello Russo, Alessandra Franzoni, Federica Baldan, Cinzia Puppin, Giovanna De Maglio, Carla Pittini, Luigi Cattarossi, Stefano Pizzolitto and Giuseppe Damante
    Citation: BMC Medical Genetics 2015 16:94
    Content type: Case report Published on:

  3. Cornea plana (CNA) is a hereditary congenital abnormality of the cornea characterized by reduced corneal curvature, extreme hypermetropia, corneal clouding and hazy corneal limbus. The recessive form, CNA2, is...

    Authors: Laura Roos, Birgitte Bertelsen, Pernille Harris, Anette Bygum, Hanne Jensen, Karen Grønskov and Zeynep Tümer
    Citation: BMC Medical Genetics 2015 16:40
    Content type: Case report Published on:

  4. Oculocutaneous albinism (OCA) is a clinically and genetically heterogenic group of pigmentation abnormalities. OCA type IV (OCA4, OMIM 606574) develops due to homozygous or compound heterozygous mutations in the

    Authors: Lola Tóth, Beáta Fábos, Katalin Farkas, Adrienn Sulák, Kornélia Tripolszki, Márta Széll and Nikoletta Nagy
    Citation: BMC Medical Genetics 2017 18:27
    Content type: Research article Published on:

  5. 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
    Content type: Case report Published on:

  6. 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
    Content type: Research article Published on:

  7. Pathogenic mutations in FBN1, encoding the glycoprotein, fibrillin-1, cause Marfan syndrome (MFS) and related connective tissue disorders. In the present study, qualitative and quantitative effects of 16 mutation...

    Authors: Lena Tjeldhorn, Silja Svanstrøm Amundsen, Tuva Barøy, Svend Rand-Hendriksen, Odd Geiran, Eirik Frengen and Benedicte Paus
    Citation: BMC Medical Genetics 2015 16:113
    Content type: Research article Published on:

  8. 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
    Content type: Case report Published on:

  10. Stickler syndrome is the most common genetic cause of rhegmatogenous retinal detachment (RRD) in children, and has a high risk of blindness. Type I (STL1) is the most common subtype, caused by COL2A1 mutations. T...

    Authors: Dan-Dan Wang, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Ping Xu and Ji-Hong Wu
    Citation: BMC Medical Genetics 2020 21:27
    Content type: Review Published on:

  11. ACTA2 encodes smooth muscle specific α-actin, a critical component or the contractile complex of vascular smooth muscle. Mutations in ACTA2 are the most common genetic cause of thoraci...

    Authors: Kylie Cooper and Stephen Brown
    Citation: BMC Medical Genetics 2017 18:143
    Content type: Case report Published on:

  12. Hypohidrotic ectodermal dysplasia (HED) is a common recessive X-linked hereditary disease that affects the development of ectoderm. Gene mutations of ectodysplasin A (EDA) play key roles in process of this dis...

    Authors: Fangqi He, Hongfeng Wang, Xiaoyu Zhang, Qingping Gao, Feng Guo and Chang Chen
    Citation: BMC Medical Genetics 2018 19:209
    Content type: Research article Published on:

  13. The etiology of the Graves’ disease (GD) is largely unknown. However, genetic factors are believed to play a major role. A recent genome-wide association study in a Han Chinese sample collection revealed two n...

    Authors: Fa-Mei Li, Lin Liu, Li-Nan Pang, Min Shen, Hong-Wen Lu, Xiao-Hong Zhang, Xun Chu and Zhen-ju Song
    Citation: BMC Medical Genetics 2017 18:56
    Content type: Research article Published on:

  14. Axenfeld-Rieger syndrome (ARS) is an autosomal dominant genetic disorder that is characterized by specific abnormalities of the anterior segment of the eye. Heterozygous mutations in two developmental transcri...

    Authors: Lusi Zhang, Yingqian Peng, Pingbo Ouyang, Youling Liang, Huilan Zeng, Nuo Wang, Xuanchu Duan and Jingming Shi
    Citation: BMC Medical Genetics 2019 20:105
    Content type: Research article Published on:

  15. Orbital/periorbital plexiform neurofibroma (OPPN) can compromise physical appearance and visual function. However, the clinical characteristics and NF1 mutation landscape in patients with heritable OPPN have not ...

    Authors: Peiwei Chai, Yingxiu Luo, Chuandi Zhou, Yefei Wang, Xianqun Fan and Renbing Jia
    Citation: BMC Medical Genetics 2019 20:158
    Content type: Research article Published on:

  16. 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
    Content type: Case report Published on:

  18. Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and various neurological, neuropsychiatric and neuromusc...

    Authors: Fatima Ouchkat, Wafaa Regragui, Imane Smaili, Hajar Naciri Darai, Naima Bouslam, Mounia Rahmani, Adyl Melhaoui, Yasser Arkha, Elmostafa El Fahime and Ahmed Bouhouche
    Citation: BMC Medical Genetics 2020 21:47
    Content type: Case report Published on:

  20. Many epidemiological studies have suggested that insulin-like growth factor1 (IGF1) gene single-nucleotide polymorphisms (SNPs) may be associated with cancer risk. Among several commonly studied polymorphisms in

    Authors: Gui-Ping Xu, Wei-Xian Chen, Qing Zhao, Hua Zhou, Shi-Zhi Chen and Li-Fang Wu
    Citation: BMC Medical Genetics 2019 20:17
    Content type: Research article Published on:

  21. Polycystic ovary syndrome (PCOS) is a common endocrine disorder causing infertility in reproductive-age women. The cause of PCOS is not fully understood but it is thought to be influenced by environmental and ...

    Authors: Asma A. Batarfi, Najlaa Filimban, Osama S. Bajouh, Ashraf Dallol, Adeel G. Chaudhary and Sherin Bakhashab
    Citation: BMC Medical Genetics 2019 20:144
    Content type: Research article Published on:

  22. 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
    Content type: Research article Published on:

  23. Mutations in the mitochondrial DNA (mtDNA) have been associated with aminoglycoside-induced and nonsyndromic deafness in different populations. In the present study, we investigated the contribution of mutatio...

    Authors: Rogério Marins Alves, Sueli Matilde da Silva Costa, Paulo Mauricio do Amôr Divino Miranda, Priscila Zonzini Ramos, Thiago Gibbin Marconi, Gisele Santos Oliveira, Arthur Menino Castilho and Edi Lúcia Sartorato
    Citation: BMC Medical Genetics 2016 17:41
    Content type: Research article Published on:

  24. Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mut...

    Authors: Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova and Zdenek Sedlacek
    Citation: BMC Medical Genetics 2017 18:62
    Content type: Case report Published on:

  25. 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
    Content type: Case report Published on:

  26. 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 Published on:

  28. 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
    Content type: Research article Published on:

  29. Identification of the first de novo mutation in potassium voltage-gated channel, shal-related subfamily, member 3 (KCND3) in a patient with complex early onset cerebellar ataxia in order to expand the genetic and...

    Authors: Katrien Smets, Anna Duarri, Tine Deconinck, Berten Ceulemans, Bart P. van de Warrenburg, Stephan Züchner, Michael Anthony Gonzalez, Rebecca Schüle, Matthis Synofzik, Nathalie Van der Aa, Peter De Jonghe, Dineke S. Verbeek and Jonathan Baets
    Citation: BMC Medical Genetics 2015 16:51
    Content type: Research article Published on:

  30. Nonsyndromic orofacial cleft is a common birth defect with a complex etiology, including multiple genetic and environmental risk factors. Recent whole genome analyses suggested associations between nonsyndromi...

    Authors: Hsiu-Huei Peng, Nai-Chung Chang, Kuo-Ting Chen, Jang-Jih Lu, Pi-Yueh Chang, Shih-Cheng Chang, Yah-Huei Wu-Chou, Yi-Ting Chou, Wanni Phang and Po-Jen Cheng
    Citation: BMC Medical Genetics 2016 17:59
    Content type: Research article Published on:

  31. Telomeres are repetitive DNA sequences located at the ends of chromosomes, and telomere length represents a biological marker for cellular aging. Interpersonal sensitivity, excessive sensitivity to the behavio...

    Authors: Akihito Suzuki, Yoshihiko Matsumoto, Masanori Enokido, Toshinori Shirata, Kaoru Goto and Koichi Otani
    Citation: BMC Medical Genetics 2017 18:112
    Content type: Research article Published on:

  32. Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal genodermatosis and caused by germline mutation of the folliculin (FLCN) gene, a tumor suppressor gene of which protein product is involved in mechanisti...

    Authors: Yoko Gunji-Niitsu, Toshio Kumasaka, Shigehiro Kitamura, Yoshito Hoshika, Takuo Hayashi, Hitoshi Tokuda, Riichiro Morita, Etsuko Kobayashi, Keiko Mitani, Mika Kikkawa, Kazuhisa Takahashi and Kuniaki Seyama
    Citation: BMC Medical Genetics 2016 17:85
    Content type: Case report Published on:

  33. Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a n...

    Authors: Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel and Silke Kauferstein
    Citation: BMC Medical Genetics 2017 18:113
    Content type: Research article Published on:

  34. The calcium-sensing receptor (CaSR) is a calcium (Ca2+) sensitive G protein-coupled receptor implicated in various biological processes. In particular, it regulates Ca2+/Mg2+- homeostasis and senses interstitial ...

    Authors: Philipp Romero, Stefanie Schmitteckert, Mira M. Wouters, Lesley A. Houghton, Bastian Czogalla, Gregory S. Sayuk, Guy E. Boeckxstaens, Patrick Guenther, Stefan Holland-Cunz and Beate Niesler
    Citation: BMC Medical Genetics 2015 16:110
    Content type: Research article Published on:

  35. Peutz-Jeghers syndrome (PJS) is a rare disorder characterized by multiple gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. STK11 has been identified as a causative gene for this disease.

    Authors: Jing-Hui Chen, Jing-Jing Zheng, Qin Guo, Chao Liu, Bin Luo, Shuang-Bo Tang, Jian-Ding Cheng and Er-Wen Huang
    Citation: BMC Medical Genetics 2017 18:19
    Content type: Case report Published on:

  36. In recent years, several GWAS (genome wide association studies) of sleep-related traits have identified a number of SNPs (single nucleotides polymorphism) but their relationships with symptoms of insomnia are ...

    Authors: Daniela Bragantini, Børge Sivertsen, Philip Gehrman, Stian Lydersen and Ismail Cüneyt Güzey
    Citation: BMC Medical Genetics 2019 20:179
    Content type: Research article Published on:

  37. Bardet Biedl Syndrome (BBS) is a rare condition of multi-organ dysfunction with characteristic clinical features of retinal degeneration, truncal obesity, postaxial polydactyly, genital anomaly, intellectual d...

    Authors: Muzammil Ahmad Khan, Sumitra Mohan, Muhammad Zubair and Christian Windpassinger
    Citation: BMC Medical Genetics 2016 17:10
    Content type: Research article Published on:

  38. Maternal perception of reduced fetal movements (RFM) is associated with increased risk of fetal growth restriction (FGR) and stillbirth, mediated by placental insufficiency. The maternally expressed imprinted ...

    Authors: Anna Bugge Janssen, Simon J. Tunster, Alexander E. P. Heazell and Rosalind M. John
    Citation: BMC Medical Genetics 2016 17:17
    Content type: Research article Published on:

  39. Chronic granulomatous disease (CGD) is an inherited immunodeficiency disease caused by the defect of NADPH oxidase. Mutations in CYBB or CYBA gene may result in membrane subunits, gp91phox or p22phox, expression ...

    Authors: Jinqiao Sun, Min Wen, Ying Wang, Danru Liu, Wenjing Ying and Xiaochuan Wang
    Citation: BMC Medical Genetics 2017 18:127
    Content type: Research article Published on:

  40. Mutations in TSC1 or TSC2 cause the tuberous sclerosis complex (TSC), while mutations in PKD1 or PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). PKD1 lays immediately adjacent to TSC2 and deletio...

    Authors: Cristina Cabrera-López, Gemma Bullich, Teresa Martí, Violeta Català, Jose Ballarín, John J. Bissler, Peter C. Harris, Elisabet Ars and Roser Torra
    Citation: BMC Medical Genetics 2015 16:39
    Content type: Research article Published on:

  42. Spinal muscular atrophy (SMA) is a rare neuromuscular disorder threating hundreds of thousands of lives worldwide. And the severity of SMA differs among different clinical types, which has been demonstrated to...

    Authors: Jianping Jiang, Jinwei Huang, Jianlei Gu, Xiaoshu Cai, Hongyu Zhao and Hui Lu
    Citation: BMC Medical Genetics 2019 20:204
    Content type: Case report Published on:

  43. Citrullinemia type I (CTLN1) is a rare autosomal recessive disorder of the urea cycle caused by a deficiency in the argininosuccinate synthetase (ASS1) enzyme due to mutations in the ASS1 gene. Only a few Chinese...

    Authors: Yiming Lin, Hongzhi Gao, Bin Lu, Shuang Zhou, Tianwen Zheng, Weihua Lin, Lin Zhu, Mengyi Jiang and Qingliu Fu
    Citation: BMC Medical Genetics 2019 20:110
    Content type: Case report Published on:

  44. The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue. The disease presents clinically with hypertrophic cardi...

    Authors: Pooya Banankhah, Gregory A. Fishbein, Anthony Dota and Reza Ardehali
    Citation: BMC Medical Genetics 2018 19:1
    Content type: Case report Published on:

  45. Ornithine transcarbamylase deficiency (OTCD) is an X-linked recessive disorder involving a defect in the urea cycle caused by OTC gene mutations. Although a total of 417 disease-causing mutations in OTC have been...

    Authors: Katsuyuki Yokoi, Yoko Nakajima, Hidehito Inagaki, Makiko Tsutsumi, Tetsuya Ito and Hiroki Kurahashi
    Citation: BMC Medical Genetics 2018 19:210
    Content type: Case report Published on:

  46. Preterm birth is the leading cause of mortality and morbidity in newborn infants. Its etiology is multifactorial with genes and environmental factors, including chronic maternal stress, contributing to its ris...

    Authors: Inge Christiaens, Q. Wei Ang, Lindsay N. Gordon, Xin Fang, Scott M. Williams, Craig E. Pennell and David M. Olson
    Citation: BMC Medical Genetics 2015 16:59
    Content type: Research article Published on:

  47. Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped...

    Authors: W. Smaili, S. Chafai Elalaoui, S. Meier, M. Zerkaoui, A. Sefiani and K. Heinimann
    Citation: BMC Medical Genetics 2017 18:50
    Content type: Case report Published on:

  48. 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 Published on:

  49. Fanconi anemia (FA) is a heterogeneous genetic disorder characterized by congenital anomalies, early-onset bone marrow failure, and a high predisposition to cancers. Up to know, different genes involved in the...

    Authors: Soheila Zareifar, Hassan Dastsooz, Mahdi Shahriari, Mohammad Ali Faghihi, Golsa Shekarkhar, Mohammadreza Bordbar, Omid Reza Zekavat and Nader Shakibazad
    Citation: BMC Medical Genetics 2019 20:122
    Content type: Case report Published on:

  50. Mutations in Leucine-rich repeat kinase 2 NM_198578 (LRRK2 c.6055G > A (p.G2019S), LRRK2 c.4321C > G (p.R1441G)) and alpha-synuclein NM_000345 (SNCA c.209G > A (p.A53T)) genes causing Parkinson’s disease (PD) are...

    Authors: Charmaine Zahra, Christine Tabone, Graziella Camilleri, Alex E. Felice, Rosienne Farrugia and Stephanie Bezzina Wettinger
    Citation: BMC Medical Genetics 2016 17:65
    Content type: Research article Published on:

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