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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. In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive d...

    Authors: Mouna Ouhenach, Abdelali Zrhidri, Imane Cherkaoui Jaouad, Wiam Smaili and Abdelaziz Sefiani

    Citation: BMC Medical Genetics 2020 21:240

    Content type: Research article

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  2. Early-onset chronic diarrhoea often indicates a congenital disorder. Mutation in diacylglycerol o-acyltransferase 1 (DGAT1) has recently been linked to early-onset chronic diarrhoea. To date, only a few cases of

    Authors: Luojia Xu, Weizhong Gu, Youyou Luo, Jingan Lou and Jie Chen

    Citation: BMC Medical Genetics 2020 21:239

    Content type: Case report

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  3. Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 (ABCB4) gene. This gene encodes multidrug res...

    Authors: Mariam Goubran, Ayodeji Aderibigbe, Emmanuel Jacquemin, Catherine Guettier, Safwat Girgis, Vincent Bain and Andrew L. Mason

    Citation: BMC Medical Genetics 2020 21:238

    Content type: Case report

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  4. Diagnosis of primary ciliary dyskinesia (PCD) still remains a challenge, especially with mutations in the Dynein Arm Heavy Chain 11 (DNAH11) gene. Classical diagnostic measures like Transmission Electron Microsco...

    Authors: Rüdiger Schultz, Varpu Elenius, Heikki Lukkarinen and Tanja Saarela

    Citation: BMC Medical Genetics 2020 21:237

    Content type: Research article

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  5. Dominant optic atrophy (DOA) is an inherited optic neuropathy that mainly affects visual acuity, central visual fields and color vision due to a progressive loss of retinal ganglion cells and their axons that ...

    Authors: Nicole Weisschuh, Pascale Mazzola, Tilman Heinrich, Tobias Haack, Bernd Wissinger, Felix Tonagel and Carina Kelbsch

    Citation: BMC Medical Genetics 2020 21:236

    Content type: Case report

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  6. Autosomal dominant familial hypercholesterolemia (ADH; MIM#143890) is one of the most common monogenic disorders characterized by elevated circulatory LDL cholesterol. Initial studies in humans with ADH identi...

    Authors: Babunageswararao Kanuri, Vincent Fong, April Haller, David Y. Hui and Shailendra B. Patel

    Citation: BMC Medical Genetics 2020 21:234

    Content type: Research article

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  7. Retinoblastoma is a rare intraocular malignancy and typically initiated by inactivating biallelic mutations of RB1 gene. Each year, ~ 8000 children worldwide are diagnosed for retinoblastoma. In high-income count...

    Authors: Zhen Zhang, Yi-shuang Xiao, Ru Shen, Hong-chao Jiang, Li Tan, Ren-qiu Li, Xiao-hong Yang, Huai-yu Gu, Wen-Ji He and Jing Ma

    Citation: BMC Medical Genetics 2020 21:230

    Content type: Research article

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  8. Peroxisome biogenesis disorders (PBDs) are a group of metabolic diseases caused by dysfunction of peroxisomes. Different forms of PBDs are described; the most severe one is the Zellweger syndrome (ZS). We repo...

    Authors: Laura Lucaccioni, Beatrice Righi, Greta Miriam Cingolani, Licia Lugli, Elisa Della Casa, Francesco Torcetta, Lorenzo Iughetti and Alberto Berardi

    Citation: BMC Medical Genetics 2020 21:229

    Content type: Case report

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  9. Alterations in the SCN5A gene encoding the cardiac sodium channel Nav1.5 have been linked to a number of arrhythmia syndromes and diseases including long-QT syndrome (LQTS), Brugada syndrome (BrS) and dilative ca...

    Authors: Stefanie Scheiper-Welling, Paolo Zuccolini, Oliver Rauh, Britt-Maria Beckmann, Christof Geisen, Anna Moroni, Gerhard Thiel and Silke Kauferstein

    Citation: BMC Medical Genetics 2020 21:227

    Content type: Research article

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  10. Clinical genetic diagnosis of non-syndromic hearing loss (NSHL) is quite challenging. With regard to its high heterogeneity as well as large size of some genes, it is also really difficult to detect causative ...

    Authors: Somayeh Khatami, Masomeh Askari, Fatemeh Bahreini, Morteza Hashemzadeh-Chaleshtori, Saeed Hematian and Samira Asgharzade

    Citation: BMC Medical Genetics 2020 21:226

    Content type: Research article

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  11. Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient c...

    Authors: Yan Wang, Yuhan Chen, San Mei Wang, Xin Liu, Ya Nan Gu and Zhichun Feng

    Citation: BMC Medical Genetics 2020 21:222

    Content type: Case report

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  12. Hereditary intrinsic factor deficiency is a rare disease characterized by cobalamin deficiency with the lack of gastric intrinsic factor because of gastric intrinsic factor (GIF) mutations. Patients usually prese...

    Authors: Jing Ruan, Bing Han, Junling Zhuang, Miao Chen, Fangfei Chen, Yuzhou Huang and Wenzhe Zhou

    Citation: BMC Medical Genetics 2020 21:221

    Content type: Case report

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  13. Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinic...

    Authors: Maria Santa Rocca, Gioia Piatti, Angela Michelucci, Raffaella Guazzo, Veronica Bertini, Cinzia Vinanzi, Maria Adelaide Caligo, Angelo Valetto and Carlo Foresta

    Citation: BMC Medical Genetics 2020 21:220

    Content type: Case report

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  14. Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenoty...

    Authors: Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee and Brendan Lanpher

    Citation: BMC Medical Genetics 2020 21:219

    Content type: Case report

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  15. Mitochondrial encephalomyopathy caused by bi-allelic deleterious variants in TARS2 is rare. To date, only two pedigrees were reported in the literature and the connection between the gene and disease needs furthe...

    Authors: Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian and Wen-Xiong Chen

    Citation: BMC Medical Genetics 2020 21:217

    Content type: Case report

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  16. To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).

    Authors: Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral and Ishwar C. Verma

    Citation: BMC Medical Genetics 2020 21:216

    Content type: Research article

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  17. SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant ...

    Authors: Liying Sun, Qianwen Zhang, Qun Li, Yijun Tang, Yirou Wang, Xin Li, Niu Li, Jian Wang and Xiumin Wang

    Citation: BMC Medical Genetics 2020 21:215

    Content type: Case report

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  18. Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and...

    Authors: Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing and Weibo Xia

    Citation: BMC Medical Genetics 2020 21:214

    Content type: Case report

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  19. Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1. The current...

    Authors: Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang and Ji-Hong Wu

    Citation: BMC Medical Genetics 2020 21:213

    Content type: Research article

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  20. Marfan syndrome (MFS) is a common autosomal dominant inherited disease, and the occurrence rate is around 0.1–0.2‰. The causative variant of FNB1 gene accounts for approximately 70–80% of all MFS cases. In this s...

    Authors: Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao and Yuan Gao

    Citation: BMC Medical Genetics 2020 21:211

    Content type: Case report

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  21. Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritanc...

    Authors: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova and Valery Vladimirovich Ilinsky

    Citation: BMC Medical Genetics 2020 21:209

    Content type: Case report

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  22. HbH disease results from dysfunction of three, less commonly two, α-globin genes through various combinations of deletion and non-deletion mutations. Characterization of the mutations and the underlying genoty...

    Authors: Rawand P. Shamoon, Ahmed K. Yassin, Ranan K. Polus and Mohamad D. Ali

    Citation: BMC Medical Genetics 2020 21:203

    Content type: Research article

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  23. Metanephric adenoma (MA) is a rare benign renal neoplasm. On occasion, MA can be difficult to differentiate from renal malignancies such as papillary renal cell carcinoma in adults and Wilms̕ tumor in children...

    Authors: Aida Catic, Amina Kurtovic-Kozaric, Ardis Sophian, Lech Mazur, Faruk Skenderi, Ondrej Hes, Stephen Rohan, Dinesh Rakheja, Jillene Kogan and Michael R. Pins

    Citation: BMC Medical Genetics 2020 21:202

    Content type: Research article

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  24. Dedifferentiated liposarcoma (DDLPS), which accounts for an estimated 15–20% of liposarcomas, is a high-grade and aggressive malignant neoplasm, exhibiting a poor response to available therapeutic agents. Howe...

    Authors: Yoon-Seob Kim, Sun Shin, Seung-Hyun Jung and Yeun-Jun Chung

    Citation: BMC Medical Genetics 2020 21:200

    Content type: Case report

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  25. Juvenile polyposis syndrome (JPS) is a rare autosomal dominant hereditary disorder characterized by the development of multiple distinct juvenile polyps in the gastrointestinal tract with an increased risk of ...

    Authors: Qing Liu, Mengling Liu, Tianshu Liu and Yiyi Yu

    Citation: BMC Medical Genetics 2020 21:196

    Content type: Case report

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  26. Alagille syndrome is an autosomal dominant disorder usually caused by pathogenic variants of the JAG1 gene. In the past, cholestasis was a condition sine qua non for diagnosis of the syndrome. However, recent adv...

    Authors: Malgorzata Ponikowska, Agnieszka Pollak, Ewa Kotwica-Strzalek, Dorota Brodowska-Kania, Magdalena Mosakowska, Rafal Ploski and Stanislaw Niemczyk

    Citation: BMC Medical Genetics 2020 21:195

    Content type: Case report

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  27. Schizophrenia is a severe, heritable, and refractory psychiatric disorder. Several studies have shown that the disrupted in schizophrenia 1 (DISC1) gene is closely associated with schizophrenia by its role in neu...

    Authors: Xiaoqian Fu, Guofu Zhang, Yansong Liu, Ling Zhang, Fuquan Zhang and Conghua Zhou

    Citation: BMC Medical Genetics 2020 21:194

    Content type: Research article

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  28. Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes.

    Authors: Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu and Xu Ma

    Citation: BMC Medical Genetics 2020 21:192

    Content type: Case report

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  29. Central nervous system (CNS) hemangioblastomas are the most frequent cause of mortality in patients with Von Hippel–Lindau (VHL) disease, an autosomal dominant genetic disease resulting from germline mutations...

    Authors: Zhen Liu, Jingcheng Zhou, Liang Li, Zhiqiang Yi, Runchun Lu, Chunwei Li and Kan Gong

    Citation: BMC Medical Genetics 2020 21:191

    Content type: Case report

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  30. Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as...

    Authors: Maja Radman and Tanja Milicevic

    Citation: BMC Medical Genetics 2020 21:190

    Content type: Case report

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  31. Acroscyphodysplasia has been described as a phenotypic variant of acrodysostosis type 2 and pseudohypoparathyroidism. In acrodysostosis, skeletal features can include brachydactyly, facial hypoplasia, cone-sha...

    Authors: Katina Kartalias, Austin P. Gillies, Maria T. Peña, Andrea Estrada, Dorothy I. Bulas, Carlos R. Ferreira and Laura L. Tosi

    Citation: BMC Medical Genetics 2020 21:189

    Content type: Case report

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  32. Hypertrophic cardiomyopathy (HCM) is a genetic disorder mostly caused by sarcomeric gene mutations, but almost 10% of cases are attributed to inherited metabolic and neuromuscular disorders. First described in...

    Authors: Adrian Giucă, Cristina Mitu, Bogdan Ovidiu Popescu, Alexandra Eugenia Bastian, Răzvan Capşa, Adriana Mursă, Viorica Rădoi, Bogdan Alexandru Popescu and Ruxandra Jurcuţ

    Citation: BMC Medical Genetics 2020 21:188

    Content type: Case report

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  33. 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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  34. 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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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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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  47. 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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  48. 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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As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times.  Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time.