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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. 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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  2. 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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  3. 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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  4. 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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  5. 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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  6. 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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  7. 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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  8. 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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  9. 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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  10. 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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  11. 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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  12. 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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  13. 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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  14. 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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  15. 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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  16. 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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  17. 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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  18. 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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  19. 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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  20. 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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  21. 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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  22. 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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  23. 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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  24. 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

    Published on:

  25. 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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  26. 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

    Published on:

  27. 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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  28. 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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  29. 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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  30. Pathogenic SLC6A1 variants have been reported in patients with myoclonic-atonic epilepsy (MAE). NOTCH1, encoding a member of the Notch family of proteins, is known to be associated with aortic valve disease. The

    Authors: Haiming Yuan, Qingming Wang, Yufeng Li, Shuangxi Cheng, Jianxin Liu and Yanhui Liu

    Citation: BMC Medical Genetics 2020 21:93

    Content type: Case report

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  31. Pediatric high-grade gliomas (pHGGs) are incurable malignant brain cancers. Clear somatic genetic drivers are difficult to identify in the majority of cases. We hypothesized that this may be due to the existen...

    Authors: Anna Bobyn, Mehdi Zarrei, Yuankun Zhu, Mary Hoffman, Darren Brenner, Adam C. Resnick, Stephen W. Scherer and Marco Gallo

    Citation: BMC Medical Genetics 2020 21:92

    Content type: Research article

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  32. ERF-related craniosynostosis are a rare, complex, premature trisutural fusion associated with a broad spectrum of clinical features and heterogeneous aetiology. Here we describe two cases with the same pathoge...

    Authors: Izabella Körberg, Daniel Nowinski, Marie-Louise Bondeson, Malin Melin, Lars Kölby and Eva-Lena Stattin

    Citation: BMC Medical Genetics 2020 21:90

    Content type: Case report

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  33. The aim was to establish the true risk of having an affected child with Cystic Fibrosis (CF) in the Sicilian infertile population.

    Authors: Sandrine Chamayou, Maria Sicali, Debora Lombardo, Elena Maglia, Annalisa Liprino, Clementina Cardea, Michele Fichera, Ermanno Venti and Antonino Guglielmino

    Citation: BMC Medical Genetics 2020 21:89

    Content type: Research article

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  34. Developmental dyslexia (DD) is a neurodevelopmental learning disorder with high heritability. A number of candidate susceptibility genes have been identified, some of which are linked to the function of the ci...

    Authors: Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, Harriet E. Nilsson, Jesper Eisfeldt, Anca Dragomir, Martin Paucar, Tobias Granberg, Tie-Qiang Li, Anna Lindstrand, Juha Kere and Isabel Tapia-Páez

    Citation: BMC Medical Genetics 2020 21:87

    Content type: Case report

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  35. Vascular endothelial growth factor (VEGF) gene is highly polymorphic, and single nucleotide polymorphisms (SNP) of VEGF gene are associate with cancer prognosis. This study aimed to analyze the correlation of ...

    Authors: Changjiang Liu, Xuetao Zhou, Zefeng Zhang and Yang Guo

    Citation: BMC Medical Genetics 2020 21:86

    Content type: Research article

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  36. Nephronophthisis (NPHP) is a rare autosomal recessive inherited disorder with high heterogeneity. The majority of NPHP patients progress to end-stage renal disease (ESRD) within the first three decades of life...

    Authors: Feng Chen, Limeng Dai, Jun Zhang, Furong Li, Jinbo Cheng, Jinghong Zhao and Bo Zhang

    Citation: BMC Medical Genetics 2020 21:84

    Content type: Case report

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  37. Pierson syndrome (PS) is a rare autosomal recessive disorder, characterized by congenital nephrotic syndrome and microcoria. Advances in renal replacement therapies have extended the lifespan of patients, wher...

    Authors: Kei Nishiyama, Mari Kurokawa, Michiko Torio, Yasunari Sakai, Mitsuru Arima, Shoko Tsukamoto, Satoshi Obata, Shogo Minamikawa, Kandai Nozu, Noriyuki Kaku, Yoshihiko Maehara, Koh-Hei Sonoda, Tomoaki Taguchi and Shouichi Ohga

    Citation: BMC Medical Genetics 2020 21:80

    Content type: Case report

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  38. The protein Kruppel-like factor 13 (KLF13) is a member of the KLF family and has been identified as a cardiac transcription factor that is involved in heart development. However, the relationship between KLF13...

    Authors: Wenjuan Li, Baolei Li, Tingting Li, Ergeng Zhang, Qingjie Wang, Sun Chen and Kun Sun

    Citation: BMC Medical Genetics 2020 21:78

    Content type: Research article

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  39. Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1. Next Generatio...

    Authors: Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni and Sirous Zeinali

    Citation: BMC Medical Genetics 2020 21:77

    Content type: Case report

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  40. β Thalassemia is one of the most common groups of hereditary haemoglobinopathies. Affected people with thalassemia major are dependent on regular blood transfusion which on the long term leads to iron overload...

    Authors: Parinaz Zarghamian, Azita Azarkeivan, Ali Arabkhazaeli, Ahmad Mardani and Majid Shahabi

    Citation: BMC Medical Genetics 2020 21:75

    Content type: Research article

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  41. PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is rarely reported in the Chinese population. GSD VI is main...

    Authors: Xiaomei Luo, Jiacheng Hu, Xueren Gao, Yanjie Fan, Yu Sun, Xuefan Gu and Wenjuan Qiu

    Citation: BMC Medical Genetics 2020 21:74

    Content type: Case report

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  42. Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000–3000) autosomal-dominant disorder with high risk of venous thromboembolis...

    Authors: Margarita E. Polyak and Elena V. Zaklyazminskaya

    Citation: BMC Medical Genetics 2020 21:73

    Content type: Case report

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  43. Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants in either o...

    Authors: Qi Yang, Hong Xu, Jingsi Luo, Mengting Li, Sheng Yi, Qinle Zhang, Guoxing Geng, Shihan Feng and Xin Fan

    Citation: BMC Medical Genetics 2020 21:72

    Content type: Case report

    Published on:

  44. The Houge type of X-linked syndromic mental retardation is an X-linked intellectual disability (XLID) recently recorded in the Online Mendelian Inheritance in Man (OMIM) and only 8 cases have been reported in ...

    Authors: Mei Daoqi, Chen Guohong, Wang Yuan, Yang Zhixiao, Xu Kaili and Mei Shiyue

    Citation: BMC Medical Genetics 2020 21:69

    Content type: Case report

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  45. The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal ...

    Authors: Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige and Hideshi Kawakami

    Citation: BMC Medical Genetics 2020 21:68

    Content type: Case report

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  46. Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis. There are eight complementation groups of XP (XP-A to G and a variant form). XP-E is one of the least common forms, and XP-E patients ar...

    Authors: Rui Yang, Qingtao Kong, Yuanyuan Duan, Weiwei Li and Hong Sang

    Citation: BMC Medical Genetics 2020 21:67

    Content type: Case report

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  47. The calcium-selective channel TRPV6 (transient receptor potential cation channel subfamily V member 6) is crucial for maternal-fetal calcium transport across the placenta. TRPV6 mutations have recently been assoc...

    Authors: Anna E. Mason, David Grier, Sarah F. Smithson, Christine P. Burren and Elise Gradhand

    Citation: BMC Medical Genetics 2020 21:64

    Content type: Case report

    Published on:

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