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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. Chediak-Higashi Syndrome (CHS) is a rare autosomal recessive disease caused by loss of function of the lysosomal trafficking regulator protein. The causative gene LYST/CHS1 was cloned and identified in 1996, whic...

    Authors: Yinsen Song, Zhengping Dong, Shuying Luo, Junmei Yang, Yuebing Lu, Bo Gao and Tianli Fan

    Citation: BMC Medical Genetics 2020 21:4

    Content type: Case report

    Published on:

  2. Liquid biopsies of blood plasma cell free DNA can be used to monitor treatment response and potentially detect mutations that are present in resistant clones in metastatic cancer patients.

    Authors: Alexander Hendricks, Philip Rosenstiel, Sebastian Hinz, Greta Burmeister, Christoph Röcken, Kathrin Boersch, Clemens Schafmayer, Thomas Becker, Andre Franke and Michael Forster

    Citation: BMC Medical Genetics 2020 21:3

    Content type: Case report

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  3. Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1–5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other ...

    Authors: Athar Khalil, Samer Bou Karroum, Rana Barake, Gabriel Dunya, Samer Abou-Rizk, Amina Kamar, Georges Nemer and Marc Bassim

    Citation: BMC Medical Genetics 2020 21:1

    Content type: Research article

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  4. 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

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  5. Synpolydactyly type 1 (SPD1), also known as syndactyly type II, is an autosomal dominant limb deformity generally results in webbing of 3rd and 4th fingers, duplication of 4th or 5th toes. It is most commonly ...

    Authors: Tahir Zaib, Wei Ji, Komal Saleem, Guangchen Nie, Chao Li, Lin Cao, Baijun Xu, Kexian Dong, Hanfei Yu, Xuguang Hao, Yan Xue, Shuhan Si, Xueyuan Jia, Jie Wu, Xuelong Zhang, Rongwei Guan…

    Citation: BMC Medical Genetics 2019 20:203

    Content type: Research article

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  6. The morbidity and mortality of endometrial tumors, a common type of malignant cancer in women, have increased in recent years. POLE encodes the DNA polymerase ε, which is responsible for the leading strand DNA...

    Authors: Yiran Li, Yiding Bian, Kai Wang and Xiao-Ping Wan

    Citation: BMC Medical Genetics 2019 20:202

    Content type: Research article

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  7. Vitamin D derivatives and their receptor (VDR) are potent modulators of immune responses in various diseases including malignancies as well as in metabolic and infectious disorders. The impact of vitamin D rec...

    Authors: Nghiem Xuan Hoan, Nguyen Khuyen, Dao Phuong Giang, Mai Thanh Binh, Nguyen Linh Toan, Do Tuan Anh, Ngo Tat Trung, Mai Hong Bang, Christian G. Meyer, Thirumalaisamy P. Velavan and Le Huu Song

    Citation: BMC Medical Genetics 2019 20:201

    Content type: Research article

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  8. Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. Howev...

    Authors: Lingchi Kong, Li Shi, Wenbo Wang, Rongtai Zuo, Mengwei Wang and Qinglin Kang

    Citation: BMC Medical Genetics 2019 20:200

    Content type: Research article

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  9. Neurological disorders are a common cause of morbidity and mortality within Pakistani populations. It is one of the most important challenges in healthcare, with significant life-long socio-economic burden.

    Authors: Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad and Asma Gul

    Citation: BMC Medical Genetics 2019 20:199

    Content type: Research article

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  10. Perrault syndrome is a genetically heterogenous, very rare disease, characterized clinically by sensorineural hearing loss, ovarian dysfunction and neurological symptoms. We present the case of a 33 years old ...

    Authors: Bálint Fekete, Klára Pentelényi, Gabor Rudas, Anikó Gál, Zoltán Grosz, Anett Illés, Jimoh Idris, Gabor Csukly, Andor Domonkos and Maria Judit Molnar

    Citation: BMC Medical Genetics 2019 20:198

    Content type: Case report

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  11. Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital catar...

    Authors: Shan Li, Jianfei Zhang, Yixuan Cao, Yi You and Xiuli Zhao

    Citation: BMC Medical Genetics 2019 20:196

    Content type: Research article

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  12. Prostate cancer (Pca) remains one of the leading adult malignancies. PTEN (Phosphatase and Tensin Homolog) mutant is the top common mutated genes in prostate cancer, which makes it a promising biomarker in fut...

    Authors: Jian Sun, Shugen Li, Fei Wang, Caibin Fan and Jianqing Wang

    Citation: BMC Medical Genetics 2019 20:191

    Content type: Research article

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  13. Gorlin–Chaudhry–Moss syndrome (GCMS) and Fontaine–Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carr...

    Authors: Jaehui Ryu, Jung Min Ko and Choong-Ho Shin

    Citation: BMC Medical Genetics 2019 20:188

    Content type: Case report

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  14. Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China.

    Authors: Sha Zhao, Zhenqing Luo, Zhenghui Xiao, Liping Li, Rui Zhao, Yongjia Yang and Yan Zhong

    Citation: BMC Medical Genetics 2019 20:187

    Content type: Case report

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  15. Majeed syndrome is a rare, autosomal recessive autoinflammatory disorder first described in 1989. The syndrome starts during infancy with recurrent relapses of osteomyelitis typically associated with fever, co...

    Authors: Jun Liu, Xu-Yun Hu, Zhi-Peng Zhao, Ruo-Lan Guo, Jun Guo, Wei Li, Chan-Juan Hao and Bao-Ping Xu

    Citation: BMC Medical Genetics 2019 20:182

    Content type: Case report

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  16. PMM2-CDG, is the most common N-linked glycosylation disorder and subtype among all CDG syndromes, which are a series of genetic disorders involving the synthesis and attachment of glycoproteins and glycolipid ...

    Authors: Zhen Zhang, Ti-Long Huang, Jing Ma, Wen-Ji He and Huaiyu Gu

    Citation: BMC Medical Genetics 2019 20:181

    Content type: Case report

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  17. Duchenne muscular dystrophy (DMD) is a severe X-linked recessive neuromuscular disorder. Patients with DMD usually have severe and fatal symptoms, including progressive irreversible muscle weakness and atrophy...

    Authors: Jingjing Zhang, Dingyuan Ma, Gang Liu, Yuguo Wang, An Liu, Li Li, Chunyu Luo, Ping Hu and Zhengfeng Xu

    Citation: BMC Medical Genetics 2019 20:180

    Content type: Research article

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  18. Oxytocin receptor (OXTR) gene variants have been shown to affect the prevalence of preterm birth, mode of delivery and oxytocin (OXT) requirements for labor induction and augmentation. We hypothesized that this m...

    Authors: F. Füeg, S. Santos, C. Haslinger, B. Stoiber, L. Schäffer, E. Grünblatt, R. Zimmermann and A. P. Simões-Wüst

    Citation: BMC Medical Genetics 2019 20:178

    Content type: Research article

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  19. Polydactyly is one of the most common congenital hand/foot malformations in humans. Mutations in GLI3 have been reported to cause syndromic and non-syndromic forms of preaxial and postaxial polydactylies.

    Authors: Qianqian Zou, Zhigang Tian, Jie Zheng, Xiufang Zhi, Xiaojie Du, Jianbo Shu and Chunquan Cai

    Citation: BMC Medical Genetics 2019 20:174

    Content type: Case report

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  20. Familial hypercholesterolemia (FH), an autosomal dominant genetic disorder, is underdiagnosed and undertreated. The majority of FH cases are caused by low density lipoprotein receptor (LDL-R) gene mutations. The ...

    Authors: Weirong Jin, Qiuwang Zhang, Bei Wang, Lili Pan, Hongyou Qin, Daying Yang, Xiangqun Zhou, Yongcai Du, Ling Lin and Michael J. Kutryk

    Citation: BMC Medical Genetics 2019 20:173

    Content type: Research article

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  21. Uniparental disomy (UPD) refers to the situation in which two copies of homologous chromosomes or part of a chromosome originate from the one parent and no copy is supplied by the other parent.

    Authors: Dan Li, Yun Wang, Nan Zhao, Liang Chang, Ping Liu, Chan Tian and Jie Qiao

    Citation: BMC Medical Genetics 2019 20:172

    Content type: Case report

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  22. Colorectal cancer (CRC) is categorized by alteration of vital pathways such as β-catenin (CTNNB1) mutations, WNT signaling activation, tumor protein 53 (TP53) inactivation, BRAF, Adenomatous polyposis coli (APC) ...

    Authors: Suhail Razak, Nousheen Bibi, Javid Ahmad Dar, Tayyaba Afsar, Ali Almajwal, Zahida Parveen and Sarwat Jahan

    Citation: BMC Medical Genetics 2019 20:171

    Content type: Research article

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    The Correction to this article has been published in BMC Medical Genetics 2020 21:39

  23. Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at lea...

    Authors: Cong Ma, Lv Liu, Fang-Na Wang, Hai-Shen Tian, Yan Luo, Rong Yu, Liang-Liang Fan and Ya-Li Li

    Citation: BMC Medical Genetics 2019 20:169

    Content type: Case report

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  24. Myasthenia gravis (MG) is an autoimmune diseases characterized by fatigue and weakness of skeletal muscles. B-lymphocyte-activating factor (BAFF), an essential factor for B cell differentiation and development, i...

    Authors: Hui Deng, Jianjian Wang, Xiaotong Kong, Huixue Zhang, Tianfeng Wang, Wenqi Tian, Tingting Yi and Lihua Wang

    Citation: BMC Medical Genetics 2019 20:168

    Content type: Research article

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  25. Mitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations. The affected individuals represent a notable reduction in mitochondr...

    Authors: Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi and Seyed Alireza Dastgheib

    Citation: BMC Medical Genetics 2019 20:167

    Content type: Case report

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  26. Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle pro...

    Authors: Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel and Xue Zhang

    Citation: BMC Medical Genetics 2019 20:166

    Content type: Research article

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    The Correction to this article has been published in BMC Medical Genetics 2019 20:195

  27. Mutations in TSC1 or TSC2 gene cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the formation of non-malignant hamartomas in multiple vital organs. TSC1 and TSC2 gene produc...

    Authors: Shruthi Sudarshan, Manoj Kumar, Punit Kaur, Atin Kumar, Sethuraman G., Savita Sapra, Sheffali Gulati, Neerja Gupta, Madhulika Kabra and Madhumita Roy Chowdhury

    Citation: BMC Medical Genetics 2019 20:164

    Content type: Research article

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  28. 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

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  29. X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutations in the Bruton tyrosine kinase (BTK) gene on X chromosome. These mutations disturb B-cell development, decrease...

    Authors: Mingming Li, Wei Chen, Xiaomeng Sun, Zhipeng Wang, Xun Zou, Hua Wei, Zhan Wang and Wansheng Chen

    Citation: BMC Medical Genetics 2019 20:157

    Content type: Case report

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  30. Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene. The objective of the present study was to examine clinical and m...

    Authors: Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon and Jisnuson Svasti

    Citation: BMC Medical Genetics 2019 20:156

    Content type: Research article

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  31. Mutations in more than 52 genes have been identified in isolated congenital cataracts, the majority of which are located in crystalline and connexin (gap junction) genes. An in-frame one amino acid deletion in...

    Authors: Dan Li, Qinghe Jing and Yongxiang Jiang

    Citation: BMC Medical Genetics 2019 20:153

    Content type: Research article

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  32. Consanguine families display a high degree of homozygosity which increases the risk of family members suffering from autosomal recessive disorders. Thus, homozygous mutations in monogenic obesity genes may be ...

    Authors: Robina Khan Niazi, Anette Prior Gjesing, Mette Hollensted, Christian Theil Have, Dmitrii Borisevich, Niels Grarup, Oluf Pedersen, Asmat Ullah, Gulbin Shahid, Ifrah Shafqat, Asma Gul and Torben Hansen

    Citation: BMC Medical Genetics 2019 20:152

    Content type: Research article

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  33. Genetic testing is becoming an essential tool for breast cancer (BC) diagnosis and treatment pathway, and particularly important for early detection and cancer prevention. The purpose of this study was to expl...

    Authors: Hosneara Akter, Nasima Sultana, Nazrana Martuza, Aaysha Siddiqua, Nushrat Jahan Dity, Md. Atikur Rahaman, Bisan Samara, Ahmed Sayeed, Mohammed Basiruzzaman, Mohammad Mizanur Rahman, Md. Rashidul Hoq, Md. Robed Amin, Md. Abdul Baqui, Marc Woodbury-Smith, K. M. Furkan Uddin, Syed S. Islam…

    Citation: BMC Medical Genetics 2019 20:150

    Content type: Research article

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  34. The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrom...

    Authors: Sadaf Noavar, Samira Behroozi, Taraneh Tatarcheh, Farshid Parvini, Majid Foroutan and Hossein Fahimi

    Citation: BMC Medical Genetics 2019 20:147

    Content type: Case report

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  35. Although Mitochondrial DNA depletion syndrome (MDS) can be classified into three forms: myopathic, encephalomyopathic and hepatocerebral form, it is difficult to identify its form due to its clinical heterogen...

    Authors: Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang and Shiguo Liu

    Citation: BMC Medical Genetics 2019 20:146

    Content type: Case report

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  36. Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 g...

    Authors: Abida Akbar, Claire Prince, Chloe Payne, James Fasham, Wasim Ahmad, Emma L. Baple, Andrew H. Crosby, Gaurav V. Harlalka and Asma Gul

    Citation: BMC Medical Genetics 2019 20:145

    Content type: Research article

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  37. 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

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  38. Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome typ...

    Authors: Sayed Mahmoud Sajjadi-Jazi, Akbar Soltani, Samaneh Enayati, Armita Kakavand Hamidi and Mahsa M. Amoli

    Citation: BMC Medical Genetics 2019 20:143

    Content type: Case report

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  39. Reference genes are often interchangeably called housekeeping genes due to 1) the essential cellular functions their proteins provide and 2) their constitutive expression across a range of normal and pathophys...

    Authors: Lai Xu, Helen Luo, Rong Wang, Wells W. Wu, Je-Nie Phue, Rong-Fong Shen, Hartmut Juhl, Leihong Wu, Wei-lun Alterovitz, Vahan Simonyan, Lorraine Pelosof and Amy S. Rosenberg

    Citation: BMC Medical Genetics 2019 20:138

    Content type: Research article

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  40. Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nat...

    Authors: Ani Melani Maskoen, Lelani Reniarti, Edhyana Sahiratmadja, Joice Sisca and Sjarif Hidajat Effendi

    Citation: BMC Medical Genetics 2019 20:136

    Content type: Research article

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  41. Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by partial 4p deletion highly variable in size in individual patients. The core WHS phenotype is defined by the association of growth delay, ...

    Authors: Yanrui Jiang, Huizhen Sun, Qingmin Lin, Zengge Wang, Guanghai Wang, Jian Wang, Fan Jiang and Ruen Yao

    Citation: BMC Medical Genetics 2019 20:134

    Content type: Case report

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  42. Proximal symphalangism (SYM1; OMIM 185800), also called Cushing’s symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal join...

    Authors: Yanwei Sha, Ding Ma, Ning Zhang, Xiaoli Wei, Wensheng Liu and Xiong Wang

    Citation: BMC Medical Genetics 2019 20:133

    Content type: Research article

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  43. FOXL2 gene mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and may be associated with premature ovarian insufficiency (POI). Two types of BPES were described in the literature. BPES ty...

    Authors: Barbara Grzechocińska, Damian Warzecha, Maria Wypchło, Rafal Ploski and Mirosław Wielgoś

    Citation: BMC Medical Genetics 2019 20:132

    Content type: Case report

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  44. CHEK2 is involved in the DNA damage repair response Fanconi anemia (FA)-BRCA pathway. An increased risk for breast and other cancers has been documented in individuals who carry a single pathogenic CHEK2 variant....

    Authors: Konstantinos Agiannitopoulos, Eirini Papadopoulou, Georgios N. Tsaousis, Georgia Pepe, Stavroula Kampouri, Mehmet Ali Kocdor and George Nasioulas

    Citation: BMC Medical Genetics 2019 20:131

    Content type: Case report

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  45. Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders. The present study aimed to identify the genetic cause of a Chinese Han family with non-syndromic oculocutaneous albinism (O...

    Authors: Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu and Jing Wang

    Citation: BMC Medical Genetics 2019 20:130

    Content type: Case report

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  46. CHARGE syndrome (MIM# 214800)—which is characterised by a number of congenital anomalies including coloboma, ear anomalies, deafness, facial anomalies, heart defects, atresia choanae, genital hypoplasia, growt...

    Authors: Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Tautvydas Rančelis, Živilė Maldžienė, Aušra Morkūnienė, Jekaterina Byčkova, Algirdas Utkus, Vaidutis Kučinskas and Eglė Preikšaitienė

    Citation: BMC Medical Genetics 2019 20:127

    Content type: Case report

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  47. Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatologic...

    Authors: Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada and Gen Nishimura

    Citation: BMC Medical Genetics 2019 20:126

    Content type: Case report

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2019 Journal Metrics

Announcement

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.