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BMC Medical Genetics

Clinical-Molecular Genetics and Cytogenetics

This section considers studies of the structure and function of genes and chromosomes, with relation to human health and disease and the role of genetic mutations and cytogenetic changes in human genetic disorders.

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  1. Content type: Research article

    The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the ...

    Authors: Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller and Eivind Hovig

    Citation: BMC Medical Genetics 2018 19:26

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  2. Content type: Case report

    L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar atax...

    Authors: Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L. Baple, Andrew H. Crosby and Barry A. Chioza

    Citation: BMC Medical Genetics 2018 19:25

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  3. Content type: Research article

    Maturity-onset diabetes of the young (MODY) is an early-onset, autosomal dominant form of non-insulin dependent diabetes. Genetic diagnosis of MODY can transform patient management. Earlier data on the genetic...

    Authors: Viswanathan Mohan, Venkatesan Radha, Thong T. Nguyen, Eric W. Stawiski, Kanika Bajaj Pahuja, Leonard D. Goldstein, Jennifer Tom, Ranjit Mohan Anjana, Monica Kong-Beltran, Tushar Bhangale, Suresh Jahnavi, Radhakrishnan Chandni, Vijay Gayathri, Paul George, Na Zhang, Sakthivel Murugan…

    Citation: BMC Medical Genetics 2018 19:22

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  4. Content type: Research article

    Some Hirschsprung’s disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-a...

    Authors: Gunadi, Mukhamad Sunardi, Nova Yuli Prasetyo Budi, Alvin Santoso Kalim, Kristy Iskandar and Andi Dwihantoro

    Citation: BMC Medical Genetics 2018 19:24

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  5. Content type: Case report

    Neuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. F...

    Authors: Zhijie Gao, Hua Xie, Qian Jiang, Nan Wu, Xiaoli Chen and Qian Chen

    Citation: BMC Medical Genetics 2018 19:21

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  6. Content type: Case report

    Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyo...

    Authors: Deniss Sõritsa, Hindrek Teder, Retlav Roosipuu, Hannes Tamm, Triin Laisk-Podar, Pille Soplepmann, Alan Altraja, Andres Salumets and Maire Peters

    Citation: BMC Medical Genetics 2018 19:20

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  7. Content type: Case report

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal d...

    Authors: Wenwen Zhang, Qian Han, Zhao Liu, Wei Zhou, Qing Cao and Weimin Zhou

    Citation: BMC Medical Genetics 2018 19:19

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  8. Content type: Case report

    Van Den Ende-Gupta Syndrome (VDEGS) is an extremely rare autosomal recessive syndrome with less than 20 reported families (approximately 40 patients) in the worldwide literature.

    Authors: Mohammad M. Al-Qattan, Doaa F. Andejani, Nadia A. Sakati, Khushnooda Ramzan and Faiqa Imtiaz

    Citation: BMC Medical Genetics 2018 19:18

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  9. Content type: Research article

    Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic me...

    Authors: Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng and Hong Li

    Citation: BMC Medical Genetics 2018 19:17

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  10. Content type: Research article

    Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases,...

    Authors: Wen-Bin He, Yue-Qiu Tan, Xiao Hu, Wen Li, Bo Xiong, Ke-Li Luo, Fei Gong, Guang-Xiu Lu, Ge Lin and Juan Du

    Citation: BMC Medical Genetics 2018 19:15

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  11. Content type: Research article

    Birt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon...

    Authors: Xiaocan Hou, Yuan Zhou, Yun Peng, Rong Qiu, Kun Xia, Beisha Tang, Wei Zhuang and Hong Jiang

    Citation: BMC Medical Genetics 2018 19:14

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  12. Content type: Research article

    FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical...

    Authors: Tú Nguyen-Dumont, Aleksander Myszka, Pawel Karpinski, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska and Melissa C. Southey

    Citation: BMC Medical Genetics 2018 19:12

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  13. Content type: Case report

    Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes ...

    Authors: Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt and Catherine DeVile

    Citation: BMC Medical Genetics 2018 19:8

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  14. Content type: Case report

    Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA...

    Authors: Isabell Popp, Maqsood Punekar, Nick Telford, Stavros Stivaros, Kate Chandler, Meenakshi Minnis, Anna Castleton, Claire Higham, Louise Hopewell, D. Gareth Evans, Anja Raams, Arjan F. Theil, Stefan Meyer and Detlev Schindler

    Citation: BMC Medical Genetics 2018 19:7

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  15. Content type: Research article

    Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is b...

    Authors: Paula Fernanda Silva Fonseca, Rodolfo Delfini Cançado, Flavio Augusto Naoum, Carla Luana Dinardo, Guilherme Henrique Hencklain Fonseca, Sandra Fatima Menosi Gualandro, José Eduardo Krieger, Alexandre Costa Pereira, Pierre Brissot and Paulo Caleb Junior Lima Santos

    Citation: BMC Medical Genetics 2018 19:3

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  16. Content type: Research article

    Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH pat...

    Authors: Yiming Lin, Zhenzhu Zheng, Wenjia Sun and Qingliu Fu

    Citation: BMC Medical Genetics 2018 19:5

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  17. Content type: Case report

    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

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  18. Content type: Case report

    Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease that is characterized by pain, stiffness and enlargement of multiple joints with an age of onset between 3 and 8 years...

    Authors: Qiongyi Hu, Jing Liu, Yi Wang, Jiucun Wang, Hui Shi, Yue Sun, Xinyao Wu, Chengde Yang and Jialin Teng

    Citation: BMC Medical Genetics 2017 18:149

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  19. Content type: Research article

    Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellit...

    Authors: Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese and Antonio Ceriello

    Citation: BMC Medical Genetics 2017 18:147

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