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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. Disorders of the metabolism and absorption of vitamin B12 can lead to decrease in activity of methionine synthetase and methylmalonate coenzyme A mutase (MMUT), which results in increased levels of methylmalon...

    Authors: Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Lin-Qi Chen, Hai-Ying Wu and Xu-Qin Chen

    Citation: BMC Medical Genetics 2020 21:183

    Content type: Case report

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  2. Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant genetic disease characterized by intellectual and growth retardations, as well as major microcephaly, induced by missense and sp...

    Authors: Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram and Arash Rafii

    Citation: BMC Medical Genetics 2020 21:182

    Content type: Case report

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  3. Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hea...

    Authors: Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo and Matteo Bertelli

    Citation: BMC Medical Genetics 2020 21:173

    Content type: Case report

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  4. Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by microangiopathic hemolytic anemia caused by small vessel thrombosis, thrombocytopenia, and renal failure. The common cause of aHUS i...

    Authors: Soraya Gholizad-kolveiri, Nakysa Hooman, Rasoul Alizadeh, Rozita Hoseini, Hasan Otukesh, Saeed Talebi and Mansoureh Akouchekian

    Citation: BMC Medical Genetics 2020 21:169

    Content type: Case report

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  5. Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS ...

    Authors: Talal J. Qazi, Qiao Wu, Ailikemu Aierken, Daru Lu, Ihtisham Bukhari, Hafiz M. J. Hussain, Jingmin Yang, Asif Mir and Hong Qing

    Citation: BMC Medical Genetics 2020 21:168

    Content type: Research article

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  6. Mutations in the exonuclease domain of POLE, a DNA polymerase associated with DNA replication and repair, lead to cancers with ultra-high mutation rates. Most studies focus on intestinal and uterine cancers wi...

    Authors: Fangjin Huang, Hisashi Tanaka, Beatrice S. Knudsen and Joanne K. Rutgers

    Citation: BMC Medical Genetics 2020 21:167

    Content type: Research article

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  7. Propionic acidemia (PA)(OMIM#606054) is an inborn error of branched-chain amino acid metabolism, caused by defects in the propionyl-CoA carboxylase (PCC) enzyme which encoded by the PCCA and PCCB genes.

    Authors: Hai-rong Wang, Yan-qiu Liu, Xue-lian He, Jun Sun, Fan-wei Zeng, Cheng-bin Yan, Hao Li, Shu-yang Gao and Yun Yang

    Citation: BMC Medical Genetics 2020 21:166

    Content type: Case report

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  8. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects also known as CHILD syndrome is an X-linked dominant, male lethal genodermatosis with a prevalence of 1 in 100,000 live births. Mutatio...

    Authors: D. Hettiarachchi, Hetalkumar Panchal, P. S. Lai and V. H. W. Dissanayake

    Citation: BMC Medical Genetics 2020 21:164

    Content type: Case report

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  9. Nonalcoholic fatty liver disease (NAFLD) is one of the most common causes of chronic liver disease worldwide. Current studies have shown that PNPLA3 (Patatin-like phospholipase domain containing 3) rs738409 G/...

    Authors: Shan Tang, Jing Zhang, Ting Ting Mei, Hai Qing Guo, Xin Huan Wei, Wen Yan Zhang, Ya Li Liu, Shan Liang, Zuo Peng Fan, Li Xia Ma, Wei Lin, Yi Rong Liu, Li Xia Qiu and Hai Bin Yu

    Citation: BMC Medical Genetics 2020 21:163

    Content type: Research article

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  10. Pathogenic AXIN2 variants cause absence of permanent teeth (hypodontia), sparse hair and eye brows (ectodermal dysplasia), and gastrointestinal polyps and cancer. Inheritance is autosomal dominant with variable p...

    Authors: Sarah K. Macklin- Mantia, Stephanie L. Hines, Kaisorn L. Chaichana, Angela M. Donaldson, Stephen L. Ko, Qihui Zhai, Niloy Jewel Samadder and Douglas L. Riegert-Johnson

    Citation: BMC Medical Genetics 2020 21:161

    Content type: Case report

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  11. Okur-Chung neurodevelopmental syndrome (OCNDS) and tricho-rhino-phalangeal syndrome type I (TRPSI) are rare Mendelian diseases. OCNDS is caused by CSNK2A1 gene variants and TRPSI is caused by the TRPS1gene. Howev...

    Authors: Shanshan Xu, Qun Lian, Jinzhun Wu, Lingli Li and Jia Song

    Citation: BMC Medical Genetics 2020 21:158

    Content type: Case report

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  12. Holocarboxylase synthetase (HLCS) deficiency is a rare inborn disorder of biotin metabolism, which results in defects in several biotin-dependent carboxylases and presents with metabolic ketoacidosis and skin ...

    Authors: Zhenzhu Zheng, Gaopin Yuan, Minyan Zheng, Yiming Lin, Faming Zheng, Mengyi Jiang, Lin Zhu and Qingliu Fu

    Citation: BMC Medical Genetics 2020 21:155

    Content type: Case report

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  13. MYH14 gene mutations have been suggested to be associated with nonsyndromic/syndromic sensorineural hearing loss. It has been reported that mutations in MYH14 can result in autosomal dominant nonsyndromic deafnes...

    Authors: Mingming Wang, Yicui Zhou, Fengguo Zhang, Zhaomin Fan, Xiaohui Bai and Haibo Wang

    Citation: BMC Medical Genetics 2020 21:154

    Content type: Research article

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  14. NAA10 is the catalytic subunit of the major N-terminal acetyltransferase complex NatA which acetylates almost half the human proteome. Over the past decade, many NAA10 missense variants have been reported as c...

    Authors: Ingrid Bader, Nina McTiernan, Christine Darbakk, Eugen Boltshauser, Rasmus Ree, Sabine Ebner, Johannes A. Mayr and Thomas Arnesen

    Citation: BMC Medical Genetics 2020 21:153

    Content type: Case report

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  15. Intermediate filament proteins that construct the nuclear lamina of a cell include the Lamin A/C proteins encoded by the LMNA gene, and are implicated in fundamental processes such as nuclear structure, gene expr...

    Authors: Halida P. Widyastuti, Trina M. Norden-Krichmar, Anna Grosberg and Michael V. Zaragoza

    Citation: BMC Medical Genetics 2020 21:152

    Content type: Research article

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  16. Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50–60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 gene...

    Authors: Yingjie Zhou, Muhammad Tariq, Sijie He, Uzma Abdullah, Jianguo Zhang and Shahid Mahmood Baig

    Citation: BMC Medical Genetics 2020 21:151

    Content type: Research article

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  17. Glucose-6-phosphate dehydrogenase deficiency (D-G6PD) is an X-linked recessive disorder resulted from deleterious variants in the housekeeping gene Glucose-6-phosphate 1-dehydrogenase (G6PD), causing impaired res...

    Authors: Yongqing Tong, Bei Liu, Hongyun Zheng, Anyu Bao, Zegang Wu, Jian Gu, Bi-Hua Tan, Mary McGrath, Shriya Kane, Chunhua Song and Yan Li

    Citation: BMC Medical Genetics 2020 21:150

    Content type: Research article

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  18. Short-chain enoyl-CoA hydratase deficiency (ECHS1D), also known as ECHS1 deficiency, is a rare inborn metabolic disorder with clinical presentations characterized by Leigh syndrome (LS). Thirty-four different ...

    Authors: Dan Sun, Zhimei Liu, Yongchu Liu, Miaojuan Wu, Fang Fang, Xianbo Deng, Zhisheng Liu, Liang Song, Kei Murayama, Chunhua Zhang and Yuanyuan Zhu

    Citation: BMC Medical Genetics 2020 21:149

    Content type: Case report

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  19. Ankylosing spondylitis (AS) is considered as a subtype of spondyloarthritis (SpA) that mainly leads to fatigue, stiffness, spinal ankylosis, and impaired physical functions with reduced quality of life. Interl...

    Authors: Hamideh Aghaei, Elham Farhadi, Maryam Akhtari, Sara Shahba, Shayan Mostafaei, Ahmadreza Jamshidi, Shiva Poursani, Mahdi Mahmoudi and Mohammad Hossein Nicknam

    Citation: BMC Medical Genetics 2020 21:147

    Content type: Research article

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  20. Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in the PDE3A gene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Other...

    Authors: Xianqing Li, Zongzhe Li, Peng Chen, Yan Wang, Dao Wen Wang and Dao Wu Wang

    Citation: BMC Medical Genetics 2020 21:144

    Content type: Case report

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  21. Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting with low back pain or radicular pain. The inflammatory changes would occur in discs in the process of IVDD. Therefore,...

    Authors: Sara Hanaei, Sina Abdollahzade, Maryam Sadr, Mohammad Hossein Mirbolouk, Ehsan Fattahi, Alireza Khoshnevisan and Nima Rezaei

    Citation: BMC Medical Genetics 2020 21:143

    Content type: Research article

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  22. Lynch syndrome (LS), which is known as a hereditary cancer syndrome, is distinguished by microsatellite instability, represented by the altered number of repetitive sequences in the coding and/or non-coding re...

    Authors: Shintaro Akabane, Takao Hinoi, Kiwamu Akagi, Hideki Yamamoto, Haruki Sada, Yosuke Shimizu, Wataru Shimizu, Takeshi Sudo, Takashi Onoe, Kohei Ishiyama, Takahisa Suzuki, Hirofumi Tazawa, Naoto Hadano, Toshihiro Misumi, Masato Kojima, Haruna Kubota…

    Citation: BMC Medical Genetics 2020 21:141

    Content type: Case report

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  23. Cohen syndrome, an autosomal recessive syndrome, is a rare syndrome with diverse clinical manifestations including failure to thrive, hypotonia, hypermobile joints, microcephaly, intellectual disabilities, cra...

    Authors: Sara Momtazmanesh, Elham Rayzan, Sepideh Shahkarami, Meino Rohlfs, Christoph Klein and Nima Rezaei

    Citation: BMC Medical Genetics 2020 21:140

    Content type: Case report

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  24. Dihidropyrimidinase (DHP) deficiency is an inherited inborn error of pyrimidine metabolism with a variable clinical presentation and even asymptomatic subjects. Dihydropyrimidinase is encoded by the DPYS gene, th...

    Authors: Malihe Mirzaei, Arghavan Kavosi, Mahboobeh Sharifzadeh, Ghazale Mahjoub, Mohammad Ali Faghihi, Parham Habibzadeh and Majid Yavarian

    Citation: BMC Medical Genetics 2020 21:138

    Content type: Case report

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  25. Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA ...

    Authors: Sophie Greillier, Laurent Daniel, Catherine Caillaud, Bertrand Dussol, Guy Touchard, Jean-Michel Goujon, Noémie Jourde-Chiche and Mickaël Bobot

    Citation: BMC Medical Genetics 2020 21:137

    Content type: Case report

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  26. Alkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental del...

    Authors: Kishore Kumar, Anikha Bellad, Pramada Prasad, Satish Chandra Girimaji and Babylakshmi Muthusamy

    Citation: BMC Medical Genetics 2020 21:136

    Content type: Research article

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  27. NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which affected individuals show developmental delay, epilepsy, intellectual disability, abnor...

    Authors: Haixia Ge, Qingbin Wu, Huigang Lu, Yong Huang, Tingting Zhou, Danlin Tan and ZhongqinJin

    Citation: BMC Medical Genetics 2020 21:135

    Content type: Case report

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  28. Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e...

    Authors: Yingjie Sun, Xiangdong Kong, Zhenhua Zhao and Xuechao Zhao

    Citation: BMC Medical Genetics 2020 21:133

    Content type: Research article

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  29. X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease for which recurrent severe infection is the major clinical symptom. BTK is the main causative gene, with X chromosome recessive inheritance. H...

    Authors: Shanshan Gao, Shuang Hu, Huikun Duan, Li Wang and Xiangdong Kong

    Citation: BMC Medical Genetics 2020 21:131

    Content type: Research article

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  30. Colon adenocarcinoma (COAD) is the most common form of colon cancer. The glutathione S-transferase Mu (GSTM) gene belongs to the GST gene family, which functions in cell metabolism and detoxification. The relatio...

    Authors: Erna Guo, Haotang Wei, Xiwen Liao, Liuyu Wu and Xiaoyun Zeng

    Citation: BMC Medical Genetics 2020 21:130

    Content type: Research article

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  31. Hearing loss (HL) is the most common sensorineural disorder with high phenotypic and genotypic heterogeneity, which negatively affects life quality. Autosomal recessive non-syndromic hearing loss (ARNSHL) cons...

    Authors: Akram Sarmadi, Samane Nasrniya, Maryam Soleimani Farsani, Sina Narrei, Zahra Nouri, Mahsa Sepehrnejad, Mohammad Hussein Nilforoush, Hamidreza Abtahi and Mohammad Amin Tabatabaiefar

    Citation: BMC Medical Genetics 2020 21:127

    Content type: Research article

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  32. The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The synd...

    Authors: Brigitte Glanzmann, Marlo Möller, Mardelle Schoeman, Michael Urban, Paul D. van Helden, Lisa Frigati, Ravnit Grewal, Hermanus Pieters, Ben Loos, Eileen G. Hoal, Richard H. Glashoff, Helena Cornelissen, Helena Rabie, Monika M. Esser and Craig J. Kinnear

    Citation: BMC Medical Genetics 2020 21:124

    Content type: Case report

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  33. Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder. Hereditary spastic paraplegia can be inherited in var...

    Authors: Weiwei Yu, Haiqiang Jin, Jianwen Deng, Ding Nan and Yining Huang

    Citation: BMC Medical Genetics 2020 21:123

    Content type: Research article

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  34. The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has...

    Authors: Bingxin Zhou, Lili Yu, Yan Wang, Wenjing Shang, Yi Xie, Xiong Wang and Fengchan Han

    Citation: BMC Medical Genetics 2020 21:121

    Content type: Research article

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  35. Fanconi anemia (FA) is the most common inherited bone marrow failure (BMF) syndrome with 22 related genes identified. The ALDH2 rs671variant has been proved related to accelerate the progression of BMF in FA pati...

    Authors: Daijing Nie, Jing Zhang, Fang Wang, Wei Zhang, Lili Liu, Xue Chen, Yang Zhang, Panxiang Cao, Min Xiong, Tong Wang, Ping Wu, Xiaoli Ma, Wenjun Tian, Mangju Wang, Kylan N. Chen and Hongxing Liu

    Citation: BMC Medical Genetics 2020 21:118

    Content type: Research article

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  36. Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant M...

    Authors: Jiashen Shao, Sen Zhao, Zihui Yan, Lianlei Wang, Yuanqiang Zhang, Mao Lin, Chenxi Yu, Shengru Wang, Yuchen Niu, Xiaoxin Li, Guixing Qiu, Jianguo Zhang, Zhihong Wu and Nan Wu

    Citation: BMC Medical Genetics 2020 21:115

    Content type: Research article

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  37. Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase (IDS) and the progressive lysosomal accu...

    Authors: L Chkioua, O Grissa, N Leban, M Gribaa, H Boudabous, H Ben Turkia, S Ferchichi, N Tebib and S Laradi

    Citation: BMC Medical Genetics 2020 21:111

    Content type: Research article

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  38. Perrault syndrome is a rare recessive and genetically heterogeneous disorder characterized by sensorineural hearing loss in males and females and gonadal dysgenesis in females. Mutations in seven different gen...

    Authors: Maria Teresa Carminho-Rodrigues, Phillipe Klee, Sacha Laurent, Michel Guipponi, Marc Abramowicz, Hélène Cao-van, Nils Guinand and Ariane Paoloni-Giacobino

    Citation: BMC Medical Genetics 2020 21:109

    Content type: Case report

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  39. Beta (β)-thalassemia is one of the most common inherited disorders worldwide, with high prevalence in the Mediterranean, the Middle East and South Asia. Over the past 40 years, awareness and prevention campaig...

    Authors: Ghazala Hashmi, Asim Qidwai, Kristopher Fernandez and Michael Seul

    Citation: BMC Medical Genetics 2020 21:108

    Content type: Research article

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  40. Syndrome of synovitis acne pustulosis hyperostosis osteitis (SAPHO) and chronic recurrent multifocal osteomyelitis (CRMO) present two diseases of a dermatologic and rheumatologic spectrum that are variable in ...

    Authors: Gunter Assmann, Michaela Köhm, Volker Schuster, Frank Behrens, Rotraut Mössner, Nina Magnolo, Vinzenz Oji, Harald Burkhardt and Ulrike Hüffmeier

    Citation: BMC Medical Genetics 2020 21:102

    Content type: Research article

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  41. Desmoplastic small round cell tumor (DSRCT) is a rare, highly aggressive, translocation-associated soft-tissue sarcoma that primarily affects children, adolescents, and young adults, with a striking male predo...

    Authors: Warren A. Chow, Jiing-Kuan Yee, Walter Tsark, Xiwei Wu, Hanjun Qin, Min Guan, Jeffrey S. Ross, Siraj M. Ali and Sherri Z. Millis

    Citation: BMC Medical Genetics 2020 21:101

    Content type: Research article

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  42. Neuronal ceroid lipofuscinosis type 5 (CLN5) is a rare form of neuronal ceroid lipofuscinoses (NCLs) which are a group of inherited neurodegenerative diseases characterized by progressive intellectual and moto...

    Authors: Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang and Yiping Shen

    Citation: BMC Medical Genetics 2020 21:100

    Content type: Case report

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  43. To date, at least 746 genes have been identified to cause intellectual disability (ID). Among them, mutations in the Methyl CpG binding protein 2 (MECP2) gene are the leading cause of Rett syndrome and associated...

    Authors: Yi Gu, Bingwu Xiang, Lina Zhu, Xiuwei Ma, Xiang Chen and Tao Cai

    Citation: BMC Medical Genetics 2020 21:99

    Content type: Research article

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  44. Glutaric acidemia type II (GA II) or multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to m...

    Authors: Mingcai Ou, Lin Zhu, Yong Zhang, Yaguo Zhang, Jingyao Zhou, Yu Zhang, Xuelian Chen, Lijuan Yang, Ting Li, Xingyue Su, Qi Hu and Wenjun Wang

    Citation: BMC Medical Genetics 2020 21:98

    Content type: Case report

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  45. Amelogenesis imperfecta (AI) is a highly heterogeneous group of hereditary developmental abnormalities which mainly affects the dental enamel during tooth development in terms of its thickness, structure, and ...

    Authors: Sher Alam Khan, Muhammad Adnan Khan, Nazif Muhammad, Hina Bashir, Niamat Khan, Noor Muhammad, Rüstem Yilmaz, Saadullah Khan and Naveed Wasif

    Citation: BMC Medical Genetics 2020 21:97

    Content type: Research article

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  46. Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing f...

    Authors: Dulika Sumathipala, Petter Strømme, Christian Gilissen, Ingunn Holm Einarsen, Hilde J. Bjørndalen, Andrés Server, Jordi Corominas, Bjørnar Hassel, Madeleine Fannemel, Doriana Misceo and Eirik Frengen

    Citation: BMC Medical Genetics 2020 21:96

    Content type: Case report

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  47. Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase.

    Authors: L. Ordieres-Ortega, F. Galeano-Valle, M. Mallén-Pérez, C. Muñoz-Delgado, J. E. Apaza-Chavez, F. J. Menárguez-Palanca, L. A. Alvarez-Sala Walther and P. Demelo-Rodríguez

    Citation: BMC Medical Genetics 2020 21:94

    Content type: Case report

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