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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. Defects in the human glycosylphosphatidylinositol anchor biosynthetic pathway are associated with inherited glycosylphosphatidylinositol (GPI)-deficiencies characterized by a broad range of clinical phenotypes...

    Authors: Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky and Carol Saunders
    Citation: BMC Medical Genetics 2017 18:124
    Content type: Case report Published on:

  2. Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the

    Authors: Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho and Dong-Kyu Jin
    Citation: BMC Medical Genetics 2017 18:121
    Content type: Case report Published on:

  3. Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23...

    Authors: Karen Wessel, Jehan Suleiman, Tamam E. Khalaf, Shivendra Kishore, Arndt Rolfs and Ayman W. El-Hattab
    Citation: BMC Medical Genetics 2017 18:119
    Content type: Case report Published on:

  4. Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that...

    Authors: Muna A. Al Dhaibani, Diane Allingham-Hawkins and Ayman W. El-Hattab
    Citation: BMC Medical Genetics 2017 18:118
    Content type: Case report Published on:

  5. Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto...

    Authors: Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A. Shaw, Masayo Kagami, Toshiro Hara and Shouichi Ohga
    Citation: BMC Medical Genetics 2017 18:117
    Content type: Case report Published on:

  7. Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of ...

    Authors: Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano and Monica Miozzo
    Citation: BMC Medical Genetics 2017 18:115
    Content type: Research article Published on:

  8. Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozyg...

    Authors: Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M. Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil and Sehime G. Temel
    Citation: BMC Medical Genetics 2017 18:114
    Content type: Case report Published on:

  9. Mutations in the KCNJ2 gene encoding the ion channel Kir2.1 have been linked to the Andersen-Tawil syndrome (ATS). Molecular genetic screening performed in a family exhibiting clinical ATS phenotypes unmasked a n...

    Authors: Stefanie Scheiper, Brigitte Hertel, Britt-Maria Beckmann, Stefan Kääb, Gerhard Thiel and Silke Kauferstein
    Citation: BMC Medical Genetics 2017 18:113
    Content type: Research article Published on:

  10. The pathogenesis of hereditary hyperekplexia is thought to involve abnormalities in the glycinergic neurotransmission system, the most of mutations reported in GLRA1. This gene encodes the glycine receptor α1 sub...

    Authors: Zhiliang Yang, Guilian Sun, Fang Yao, Dongying Tao and Binlu Zhu
    Citation: BMC Medical Genetics 2017 18:110
    Content type: Case report Published on:

  11. Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development...

    Authors: Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng and Xiangdong Kong
    Citation: BMC Medical Genetics 2017 18:108
    Content type: Research article Published on:

    The Correction to this article has been published in BMC Medical Genetics 2018 19:6

  12. Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant hereditary disorder characterized by the presence of endocrine tumors affecting the parathyroid, pancreas, and pituitary. A heterozy...

    Authors: Bo-Young Kim, Mi-Hyun Park, Hae-Mi Woo, Hye-Yeong Jo, Ji Hoon Kim, Hyung Jin Choi and Soo Kyung Koo
    Citation: BMC Medical Genetics 2017 18:106
    Content type: Case report Published on:

  13. Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of g...

    Authors: Gudny A. Arnadottir, Brynjar O. Jensson, Sigurdur E. Marelsson, Gerald Sulem, Asmundur Oddsson, Ragnar P. Kristjansson, Stefania Benonisdottir, Sigurjon A. Gudjonsson, Gisli Masson, Gudmundur A. Thorisson, Jona Saemundsdottir, Olafur Th. Magnusson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Daniel F. Gudbjartsson…
    Citation: BMC Medical Genetics 2017 18:103
    Content type: Case report Published on:

  14. Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies. Scapulop...

    Authors: Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó and Béla Melegh
    Citation: BMC Medical Genetics 2017 18:105
    Content type: Case report Published on:

    The Correction to this article has been published in BMC Medical Genetics 2017 18:150

  15. SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. This study aimed to broaden the phenotypic-spectrum of disease related with SCN8A mutation...

    Authors: Jiaping Wang, Hua Gao, Xinhua Bao, Qingping Zhang, Jiarui Li, Liping Wei, Xiru Wu, Yan Chen and Shujie Yu
    Citation: BMC Medical Genetics 2017 18:104
    Content type: Research article Published on:

  16. Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tet...

    Authors: Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn and Vorasuk Shotelersuk
    Citation: BMC Medical Genetics 2017 18:102
    Content type: Research article Published on:

  17. Familial Mediterranean fever is an autosomal recessive disease characterized by recurrent episodes of fever and polyserositis and by the onset of reactive amyloid-associated amyloidosis. Amyloidosis due to fam...

    Authors: Ramón Peces, Sara Afonso, Carlos Peces, Julián Nevado and Rafael Selgas
    Citation: BMC Medical Genetics 2017 18:97
    Content type: Case report Published on:

  18. Increase of the expression of γ-globin gene and high production of fetal hemoglobin (HbF) in β-thalassemia patients is widely accepted as associated with a milder or even asymptomatic disease. The search for H...

    Authors: Giulia Breveglieri, Nicoletta Bianchi, Lucia Carmela Cosenza, Maria Rita Gamberini, Francesco Chiavilli, Cristina Zuccato, Giulia Montagner, Monica Borgatti, Ilaria Lampronti, Alessia Finotti and Roberto Gambari
    Citation: BMC Medical Genetics 2017 18:93
    Content type: Research article Published on:

  19. Perrault syndrome is a rare multisystem disorder that manifests with sensorineural hearing loss in both sexes, primary ovarian insufficiency in females and neurological features. The syndrome is heterogeneous ...

    Authors: Kui Chen, Ke Yang, Su-Shan Luo, Chen Chen, Ying Wang, Yi-Xuan Wang, Da-Ke Li, Yu-Jie Yang, Yi-Lin Tang, Feng-Tao Liu, Jian Wang, Jian-Jun Wu and Yi-Min Sun
    Citation: BMC Medical Genetics 2017 18:91
    Content type: Case report Published on:

  20. Chronic fibrosing idiopathic interstitial pneumonia (IIP) is characterized by alveolar epithelial damage, activation of fibroblast proliferation, and loss of normal pulmonary architecture and function. This st...

    Authors: Yasushi Horimasu, Nobuhisa Ishikawa, Masaya Taniwaki, Kakuhiro Yamaguchi, Kosuke Hamai, Hiroshi Iwamoto, Shinichiro Ohshimo, Hironobu Hamada, Noboru Hattori, Morihito Okada, Koji Arihiro, Yuji Ohtsuki and Nobuoki Kohno
    Citation: BMC Medical Genetics 2017 18:88
    Content type: Research article Published on:

  21. Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagn...

    Authors: Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei and Mohammad Ali Faghihi
    Citation: BMC Medical Genetics 2017 18:87
    Content type: Case report Published on:

  22. Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are th...

    Authors: Sami Qadri, Olli Anttonen, Juho Viikilä, Eija H. Seppälä, Samuel Myllykangas, Tero-Pekka Alastalo, Miia Holmström, Tiina Heliö and Juha W. Koskenvuo
    Citation: BMC Medical Genetics 2017 18:86
    Content type: Case report Published on:

  23. Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an ...

    Authors: Vito Guarnieri, Raewyn M. Seaberg, Catherine Kelly, M. Jean Davidson, Simon Raphael, Andrew Y. Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N. Hendy and David E. C. Cole
    Citation: BMC Medical Genetics 2017 18:83
    Content type: Research article Published on:

    The Erratum to this article has been published in BMC Medical Genetics 2017 18:99

  24. Pulmonary arterial hypertension (PAH) is a group of vascular diseases that produce right ventricular dysfunction, heart failure syndrome, and death. Although the majority of patients appear idiopathic, accumul...

    Authors: Gerardo Garcia-Rivas, Carlos Jerjes-Sánchez, David Rodriguez, José Garcia-Pelaez and Victor Trevino
    Citation: BMC Medical Genetics 2017 18:82
    Content type: Research article Published on:

  25. Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and...

    Authors: Melanie M. Y. Chan, Angela Barnicoat, Faiz Mumtaz, Michael Aitchison, Lucy Side, Helen Brittain, Alan W. H. Bates and Daniel P. Gale
    Citation: BMC Medical Genetics 2017 18:79
    Content type: Case report Published on:

  26. Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of...

    Authors: Fernando Cristo, José M. Inácio, Salomé de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos and José A. Belo
    Citation: BMC Medical Genetics 2017 18:77
    Content type: Research article Published on:

  27. Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mell...

    Authors: Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian and Wenhao Zhou
    Citation: BMC Medical Genetics 2017 18:75
    Content type: Case report Published on:

  28. Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and he...

    Authors: Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo and Mohammad Ali Faghihi
    Citation: BMC Medical Genetics 2017 18:73
    Content type: Case report Published on:

  29. The Tohoku Medical Megabank project aims to create a next-generation personalized healthcare system by conducting large-scale genome-cohort studies involving three generations of local residents in the areas a...

    Authors: Tomoharu Tokutomi, Akimune Fukushima, Kayono Yamamoto, Yasushi Bansho, Tsuyoshi Hachiya and Atsushi Shimizu
    Citation: BMC Medical Genetics 2017 18:71
    Content type: Software Published on:

  30. Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MR...

    Authors: Fatma Bastaki, Pratibha Nair, Madiha Mohamed, Ethar Mustafa Malik, Mustafa Helmi, Mahmoud Taleb Al-Ali and Abdul Rezzak Hamzeh
    Citation: BMC Medical Genetics 2017 18:68
    Content type: Case report Published on:

  31. Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. The aim of this study was to predict the effect of gene mutations on ...

    Authors: Sekar Deepha, Seena Vengalil, Veeramani Preethish-Kumar, Kiran Polavarapu, Atchayaram Nalini, Narayanappa Gayathri and Meera Purushottam
    Citation: BMC Medical Genetics 2017 18:67
    Content type: Research article Published on:

  32. According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT s...

    Authors: Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno, Takuma Ishii, Kazuyuki Matsushita, Osamu Ohara, Naoki Shimojo, Yoshio Kobayashi and Fumio Nomura
    Citation: BMC Medical Genetics 2017 18:66
    Content type: Case report Published on:

  33. The thalassemia syndromes are classified according to the globin chain or chains whose production is affected. β-thalassemias are caused by point mutations or, more rarely, deletions or insertions of a few nuc...

    Authors: Katarzyna Rawa, Roman J. Szczesny, Ewelina P. Owczarek, Anna Adamowicz-Salach, Anna Klukowska, Urszula Demkow, Danuta Plochocka, Pawel Szczesny, Monika Gora, Andrzej Dziembowski and Beata Burzynska
    Citation: BMC Medical Genetics 2017 18:65
    Content type: Research article Published on:

  34. In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery–Dreifuss muscular dystrophy-like, which clinica...

    Authors: Zuzhi Chen, Zhixia Ren, Wenli Mei, Qiankun Ma, Yingying Shi, Yuanxing Zhang, Shujian Li, Li Xiang and Jiewen Zhang
    Citation: BMC Medical Genetics 2017 18:63
    Content type: Research article Published on:

  35. Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mut...

    Authors: Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova and Zdenek Sedlacek
    Citation: BMC Medical Genetics 2017 18:62
    Content type: Case report Published on:

  36. The role of adenomatous polyposis coli (APC) gene in mitosis might be critical for regulation of genomic stability and chromosome segregation. APC gene mutations have been associated to have a role in colon ca...

    Authors: Souvik Ghatak, Payel Chakraborty, Sandeep Roy Sarkar, Biswajit Chowdhury, Arup Bhaumik and Nachimuthu Senthil Kumar
    Citation: BMC Medical Genetics 2017 18:61
    Content type: Research article Published on:

  37. Diagnostic Exome Sequencing (DES) has been shown to be an effective tool for diagnosis individuals with suspected genetic conditions.

    Authors: Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang and Carolyn Jones
    Citation: BMC Medical Genetics 2017 18:60
    Content type: Case report Published on:

  38. Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a con...

    Authors: Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová and Daniel Böhmer
    Citation: BMC Medical Genetics 2017 18:59
    Content type: Case report Published on:

  39. Mutation scanning methods in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene may not distinguish between a Cystic Fibrosis (CF) causing mutation and a benign variant. We have developed a simple...

    Authors: Juan Emilio Figueredo Lago, Anny Armas Cayarga, Yaimé Josefina González González and Teresa Collazo Mesa
    Citation: BMC Medical Genetics 2017 18:58
    Content type: Technical advance Published on:

  40. Pancreatic agenesis is an extremely rare cause of neonatal diabetes mellitus and has enabled the discovery of several key transcription factors essential for normal pancreas and beta cell development.

    Authors: Robert Hilbrands, Kathelijn Keymolen, Alex Michotte, Miriam Marichal, Filip Cools, Anieta Goossens, Peter In’t Veld, Jean De Schepper, Andrew Hattersley and Harry Heimberg
    Citation: BMC Medical Genetics 2017 18:57
    Content type: Case report Published on:

  42. Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL ...

    Authors: Malte P. Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C. Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B. Beck and Roman-Ulrich Müller
    Citation: BMC Medical Genetics 2017 18:53
    Content type: Research article Published on:

  43. Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son.

    Authors: Shari Javadiyan, Jamie E. Craig, Shiwani Sharma, Karen M. Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau and Kathryn P. Burdon
    Citation: BMC Medical Genetics 2017 18:52
    Content type: Research article Published on:

  44. Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NP...

    Authors: Evangelia Bountouvi, Anna Papadopoulou, Marie T. Vanier, Georgia Nyktari, Spyridon Kanellakis, Helen Michelakakis and Argyrios Dinopoulos
    Citation: BMC Medical Genetics 2017 18:51
    Content type: Research article Published on:

  45. Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, pear-shaped...

    Authors: W. Smaili, S. Chafai Elalaoui, S. Meier, M. Zerkaoui, A. Sefiani and K. Heinimann
    Citation: BMC Medical Genetics 2017 18:50
    Content type: Case report Published on:

  46. Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fev...

    Authors: Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad and Mohammad Ali Faghihi
    Citation: BMC Medical Genetics 2017 18:49
    Content type: Case report Published on:

  47. Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally ...

    Authors: Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson and Marc Abramowicz
    Citation: BMC Medical Genetics 2017 18:48
    Content type: Case report Published on:

  48. Egr4 is expressed in primary and secondary spermatocytes in adult mouse testes and has a crucial role in regulating germ cell maturation. The functional loss of Egr4 blocks spermatogen...

    Authors: Se Ra Sung, Seung Hun Song, Kyung Min Kang, Ji Eun Park, Yeo Jung Nam, Yun-jeong Shin, Dong Hyun Cha, Ju Tae Seo, Tae Ki Yoon and Sung Han Shim
    Citation: BMC Medical Genetics 2017 18:47
    Content type: Research article Published on:

  49. Spontaneous ovarian hyperstimulation syndrome (sOHSS) is a rare event occurring mostly during natural pregnancy. Among described etiologies, some activating mutations of FSH receptor (FSHR) have been identified.

    Authors: Justine Hugon-Rodin, Charlotte Sonigo, Anne Gompel, Catherine Dodé, Michael Grynberg, Nadine Binart and Isabelle Beau
    Citation: BMC Medical Genetics 2017 18:44
    Content type: Case report Published on:

  50. Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to d...

    Authors: Anwar Kamal Khan, Noor Muhammad, Abdul Aziz, Sher Alam Khan, Khadim Shah, Abdul Nasir, Muzammil Ahmad Khan and Saadullah Khan
    Citation: BMC Medical Genetics 2017 18:42
    Content type: Research article Published on:

BMC Medical Genetics

ISSN: 1471-2350

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