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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. Dystonia is a movement disorder characterized by involuntary sustained muscle contractions causing twisting and repetitive movements or abnormal postures. Some cases of primary and neurodegenerative dystonia h...

    Authors: Mariana Moscovich, Mark S LeDoux, Jianfeng Xiao, Garrett L Rampon, Satya R Vemula, Ramon L Rodriguez, Kelly D Foote and Michael S Okun
    Citation: BMC Medical Genetics 2013 14:70
    Content type: Case report Published on:

  2. Variants in the desmin gene (DES) are associated with desminopathy; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy. To date, only ~50 disease-associa...

    Authors: Heather M McLaughlin, Melissa A Kelly, Pamela P Hawley, Basil T Darras, Birgit Funke and Jonathan Picker
    Citation: BMC Medical Genetics 2013 14:68
    Content type: Case report Published on:

  3. Tensin3 is an intracellular cytoskeleton-regulating protein, the loss of which is associated with increased cell motility, as has been observed in some human cancers. A novel chromosomal translocation, t(2;7)(...

    Authors: Desiree Ludwig, Jessica Carter, James R Smith, Giuseppe Borsani, Sergio Barlati and Sassan Hafizi
    Citation: BMC Medical Genetics 2013 14:65
    Content type: Research article Published on:

  5. Mutations within the C-terminal region of the COL6A1 gene are only detected in Ullrich/Bethlem patients on extremely rare occasions.

    Authors: Elena Martoni, Stefania Petrini, Cecilia Trabanelli, Patrizia Sabatelli, Anna Urciuolo, Rita Selvatici, Adele D'Amico, Sofia Falzarano, Enrico Bertini, Paolo Bonaldo, Alessandra Ferlini and Francesca Gualandi
    Citation: BMC Medical Genetics 2013 14:59
    Content type: Case report Published on:

  6. Peutz-Jeghers syndrome (PJS) is a rare hereditary syndrome characterized by the occurrence of hamartomatous polyps in the gastrointestinal tract, mucocutaneous pigmentation and increased risk of cancer in mult...

    Authors: Pawel Borun, Anna Bartkowiak, Tomasz Banasiewicz, Boguslaw Nedoszytko, Dorota Nowakowska, Mikolaj Teisseyre, Janusz Limon, Jan Lubinski, Lukasz Kubaszewski, Jaroslaw Walkowiak, Elzbieta Czkwianianc, Monika Siolek, Agnieszka Kedzia, Piotr Krokowicz, Wojciech Cichy and Andrzej Plawski
    Citation: BMC Medical Genetics 2013 14:58
    Content type: Technical advance Published on:

  7. LMNA mutations are most frequently involved in the pathogenesis of dilated cardiomyopathy with conduction disease. The goal of this study was to identify LMNA mutations, estimate their frequency among Polish dil...

    Authors: Michal Saj, Zofia T Bilinska, Agnieszka Tarnowska, Agnieszka Sioma, Pierrette Bolongo, Malgorzata Sobieszczanska-Malek, Ewa Michalak, Dorota Golen, Lukasz Mazurkiewicz, Lukasz Malek, Ewa Walczak, Anna Fidzianska, Jacek Grzybowski, Andrzej Przybylski, Tomasz Zielinski, Jerzy Korewicki…
    Citation: BMC Medical Genetics 2013 14:55
    Content type: Research article Published on:

  8. The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box 9] with skeletal abnormalities has been ascribed to the presumptive altering of SOX9 expression by the dir...

    Authors: Ana Carolina S Fonseca, Adriano Bonaldi, Débora R Bertola, Chong A Kim, Paulo A Otto and Angela M Vianna-Morgante
    Citation: BMC Medical Genetics 2013 14:50
    Content type: Case report Published on:

  9. COL11A1 is a large complex gene around 250 kb in length and consisting of 68 exons. Pathogenic mutations in the gene can result in Stickler syndrome, Marshall syndrome or Fibrochondrogenesis. Many of the mutatio...

    Authors: Raymon Vijzelaar, Sarah Waller, Abdellatif Errami, Alan Donaldson, Teresa Lourenco, Marcia Rodrigues, Vivienne McConnell, Gregory Fincham, Martin Snead and Allan Richards
    Citation: BMC Medical Genetics 2013 14:48
    Content type: Case report Published on:

  10. Split hand/foot malformation (SHFM) is a congenital disorder characterized by a cleft of the hands and/or feet due to dificiency of central rays. Genomic rearrangement at 10q24 has been found to cause nonsyndr...

    Authors: Li Dai, Ying Deng, Nana Li, Liang Xie, Meng Mao and Jun Zhu
    Citation: BMC Medical Genetics 2013 14:45
    Content type: Research article Published on:

  11. The purpose of our study was to investigate the potential contribution of germline mutations in NOTCH1, GATA5 and TGFBR1 and TGFBR2 genes in a cohort of Italian patients with familial Bicuspid Aortic Valve (BAV).

    Authors: Ilenia Foffa, Lamia Ait Alì, Paola Panesi, Massimiliano Mariani, Pierluigi Festa, Nicoletta Botto, Cecilia Vecoli and Maria Grazia Andreassi
    Citation: BMC Medical Genetics 2013 14:44
    Content type: Research article Published on:

  12. Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant disorder characterised by facial dysmorphism, growth and psychomotor developmental delay and skeletal defects. To date, causative mutations in the NI...

    Authors: Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, Daniela Rusconi, Maura Masciadri, Anna Cereda, Cinzia Marzocchi, Giuseppe Zampino, Angelo Selicorni, Romano Tenconi, Silvia Russo, Lidia Larizza and Palma Finelli
    Citation: BMC Medical Genetics 2013 14:41
    Content type: Research article Published on:

  13. Interferon Regulatory Factor 6 (IRF6) is a member of the IRF family of transcription factors. It has been suggested to be an important contributor to orofacial development since mutations of the IRF6 gene has bee...

    Authors: Yah-Huei Wu-Chou, Lun-Jou Lo, Kuo-Ting Philip Chen, Chun-Shin Frank Chang and Yu-Ray Chen
    Citation: BMC Medical Genetics 2013 14:37
    Content type: Research article Published on:

  15. The incidence of Alzheimer’s disease, particularly in developing countries, is expected to increase exponentially as the population ages. Continuing research in this area is essential in order to better unders...

    Authors: Mohd Nazif Darawi, Chin Ai-Vyrn, Kalavathy Ramasamy, Philip Poi Jun Hua, Tan Maw Pin, Shahrul Bahyah Kamaruzzaman and Abu Bakar Abdul Majeed
    Citation: BMC Medical Genetics 2013 14:27
    Content type: Research article Published on:

  16. Tandem mass spectrometry (MS/MS) analysis is a powerful tool for newborn screening, and many rare inborn errors of metabolism are currently screened using MS/MS. However, the sensitivity of MS/MS screening for...

    Authors: Li-Yun Wang, Nien-I Chen, Pin-Wen Chen, Shu-Chuan Chiang, Wuh-Liang Hwu, Ni-Chung Lee and Yin-Hsiu Chien
    Citation: BMC Medical Genetics 2013 14:24
    Content type: Technical advance Published on:

  17. Adverse drug reactions and lack of therapeutic efficacy associated with currently prescribed pharmacotherapeutics may be attributed, in part, to inter-individual variability in drug metabolism. Studies on the ...

    Authors: Tyren M Dodgen, Warren E Hochfeld, Heidi Fickl, Sahle M Asfaha, Chrisna Durandt, Paul Rheeder, Britt I Drögemöller, Galen E B Wright, Louise Warnich, Christiaan DJ Labuschagne, Antoinette van Schalkwyk, Andrea Gaedigk and Michael S Pepper
    Citation: BMC Medical Genetics 2013 14:20
    Content type: Research article Published on:

  18. The proximal chromosome 15q is prone to unequal crossover, leading to rearrangements. Although 15q11q13 duplications are common in patients with developmental delays and mental impairment, 15q aneusomies resul...

    Authors: Jing Yang, Yongchen Yang, Yi Huang, Yan Hu, Xi Chen, Hengjuan Sun, Zhibao Lv, Qian Cheng and Liming Bao
    Citation: BMC Medical Genetics 2013 14:9
    Content type: Case report Published on:

  19. The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22q11.2 with highly variable physical and neuropsychiatric manifestations. We explored the genotype-phenotype rela...

    Authors: Elena Michaelovsky, Amos Frisch, Miri Carmel, Miriam Patya, Omer Zarchi, Tamar Green, Lina Basel-Vanagaite, Abraham Weizman and Doron Gothelf
    Citation: BMC Medical Genetics 2012 13:122
    Content type: Research article Published on:

  20. Anonychia/hyponychia congenita is a rare autosomal recessive developmental disorder characterized by the absence (anonychia) or hypoplasia (hyponuchia) of finger- and/or toenails frequently caused by mutations...

    Authors: Tahir Naeem Khan, Joakim Klar, Sadia Nawaz, Muhammad Jameel, Muhammad Tariq, Naveed Altaf Malik, Shahid M Baig and Niklas Dahl
    Citation: BMC Medical Genetics 2012 13:120
    Content type: Research article Published on:

  21. Severe congenital neutropenia type 4 (SCN4) is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3). Its core features are congenital neutropenia...

    Authors: Bridget A Fernandez, Jane S Green, Ford Bursey, Brendan Barrett, Andrée MacMillan, Sarah McColl, Sara Fernandez, Proton Rahman, Krista Mahoney, Sergio L Pereira, Stephen W Scherer, Kym M Boycott and Michael O Woods
    Citation: BMC Medical Genetics 2012 13:111
    Content type: Research article Published on:

  22. Severe hypertriglyceridemia (HTG) has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high ...

    Authors: Catalina Dussaillant, Valentina Serrano, Alberto Maiz, Susana Eyheramendy, Luis Rodrigo Cataldo, Matías Chavez, Susan V Smalley, Marcela Fuentes, Attilio Rigotti, Lorena Rubio, Carlos F Lagos, José Alfredo Martinez and José Luis Santos
    Citation: BMC Medical Genetics 2012 13:106
    Content type: Research article Published on:

  23. Continuing developments in genetic testing technology together with research revealing gene-disease associations have brought closer the potential for genetic screening of populations. A major concern, as with...

    Authors: Gareth J Hollands, David Armstrong, Angela Macfarlane, Martin A Crook and Theresa M Marteau
    Citation: BMC Medical Genetics 2012 13:87
    Content type: Research article Published on:

  24. Approximately 30 sex-chromosome discordant chimera cases have been reported to date, of which only four cases carried trisomy 21. Here, we present an additional case, an aborted fetus with a karyotype of 47,XX...

    Authors: Kuei-Fang Lee, Chun-Shuo Hsu, Pao-Lin Kuo, Jing-Liang Chen, Yuan-Hong Jiang and Ingrid Y Liu
    Citation: BMC Medical Genetics 2012 13:85
    Content type: Case report Published on:

  25. Concomitant primary cutaneous melanoma in monozygotic twins has been reported in only two pairs but in neither of them genetic analysis was performed. Two high-penetrance susceptibility genes, CDKN2A and CDK4 and...

    Authors: Cristina Pellegrini, Maria Concetta Fargnoli, Mariano Suppa and Ketty Peris
    Citation: BMC Medical Genetics 2012 13:81
    Content type: Case report Published on:

  26. Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. The condition has been classified into cerebellar a...

    Authors: Bassam R Ali, Jennifer L Silhavy, Matthew J Gleeson, Joseph G Gleeson and Lihadh Al-Gazali
    Citation: BMC Medical Genetics 2012 13:80
    Content type: Research article Published on:

  27. Autistic spectrum disorders (ASDs) are a family of neurodevelopmental disorders with strong genetic components. Recent studies have shown that copy number variations in dosage sensitive genes can contribute si...

    Authors: Xiu Xu, Qiong Xu, Ying Zhang, Xiaodi Zhang, Tianlin Cheng, Bingbing Wu, Yanhua Ding, Ping Lu, Jingjing Zheng, Min Zhang, Zilong Qiu and Xiang Yu
    Citation: BMC Medical Genetics 2012 13:75
    Content type: Case report Published on:

  28. Duplications of the X-linked MECP2 gene are associated with moderate to severe intellectual disability, epilepsy, and neuropsychiatric illness in males, while triplications are associated with a more severe pheno...

    Authors: Neil A Hanchard, Claudia MB Carvalho, Patricia Bader, Aaron Thome, Lisa Omo-Griffith, Daniela del Gaudio, Davut Pehlivan, Ping Fang, Christian P Schaaf, Melissa B Ramocki, James R Lupski and Sau Wai Cheung
    Citation: BMC Medical Genetics 2012 13:71
    Content type: Research article Published on:

  29. Brachydactyly type E (BDE; MIM#113300) is characterized by shortening of the metacarpal, metatarsal, and often phalangeal bones, and predominantly affects postaxial ray(s) of the limb. BDE may occur as an isol...

    Authors: Aleksander Jamsheer, Anna Sowińska, Leszek Kaczmarek and Anna Latos-Bieleńska
    Citation: BMC Medical Genetics 2012 13:4
    Content type: Case report Published on:

  30. Mitochondrial diseases comprise a diverse set of clinical disorders that affect multiple organ systems with varying severity and age of onset. Due to their clinical and genetic heterogeneity, these diseases ar...

    Authors: Daniel S Lieber, Scott B Vafai, Laura C Horton, Nancy G Slate, Shangtao Liu, Mark L Borowsky, Sarah E Calvo, Jeremy D Schmahmann and Vamsi K Mootha
    Citation: BMC Medical Genetics 2012 13:3
    Content type: Case report Published on:

  31. The breakpoints and mechanisms of ring chromosome formation were studied and mapped in 14 patients.

    Authors: Roberta S Guilherme, Vera F Ayres Meloni, Chong A Kim, Renata Pellegrino, Sylvia S Takeno, Nancy B Spinner, Laura K Conlin, Denise M Christofolini, Leslie D Kulikowski and Maria I Melaragno
    Citation: BMC Medical Genetics 2011 12:171
    Content type: Research article Published on:

  32. Conotruncal heart defects (CTDs) are present in 75-85% of patients suffering from the 22q11.2 deletion syndrome. To date, no consistent phenotype has been consistently correlated with the 22q11.2 deletions. Ge...

    Authors: Yue-Juan Xu, Jian Wang, Rang Xu, Peng-Jun Zhao, Xi-Ke Wang, Heng-Juan Sun, Li-Ming Bao, Jie Shen, Qi-Hua Fu, Fen Li and Kun Sun
    Citation: BMC Medical Genetics 2011 12:169
    Content type: Research article Published on:

  33. The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2. Genetic variation within the CYP19A1 gene sequence has been shown to alter the ...

    Authors: Jenny Z Wang, Mandeep S Deogan, Joshua R Lewis, Shelby Chew, Ben H Mullin, Tegan J McNab, Scott G Wilson, Evan Ingley and Richard L Prince
    Citation: BMC Medical Genetics 2011 12:165
    Content type: Research article Published on:

  34. Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease with an incidence of 1 in 400 to 1000. The disease is genetically heterogeneous, with two genes identified: PKD1 (16...

    Authors: Chaowen Yu, Yuan Yang, Lin Zou, Zhangxue Hu, Jing Li, Yunqiang Liu, Yongxin Ma, Mingyi Ma, Dan Su and Sizhong Zhang
    Citation: BMC Medical Genetics 2011 12:164
    Content type: Research article Published on:

  35. Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder chara...

    Authors: Ortrud K Steinlein, Eric Aichinger, Holger Trucks and Thomas Sander
    Citation: BMC Medical Genetics 2011 12:152
    Content type: Research article Published on:

  36. Germline mutations in either of the two tumor-suppressor genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breast and ovarian cancer cases. Most of these mutations consist of deletions, i...

    Authors: Zaida Garcia-Casado, Ignacio Romero, Antonio Fernandez-Serra, Luis Rubio, Francisco Llopis, Ana Garcia, Pilar Llombart and Jose A Lopez-Guerrero
    Citation: BMC Medical Genetics 2011 12:134
    Content type: Research article Published on:

  37. MUTYH-associated polyposis (MAP) is a recessive, hereditary, colorectal cancer-predisposing syndrome caused by biallelic mutations in the MUTYH gene. Most MUTYH pathogenic variants are missense mutations, and un...

    Authors: Giovana T Torrezan, Felipe CC da Silva, Ana CV Krepischi, Érika MM Santos, Fábio de O Ferreira, Benedito M Rossi and Dirce M Carraro
    Citation: BMC Medical Genetics 2011 12:128
    Content type: Case report Published on:

  38. Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an ...

    Authors: Chiara Conte, Maria Rosaria D'Apice, Fabrizio Rinaldi, Stefano Gambardella, Federica Sangiuolo and Giuseppe Novelli
    Citation: BMC Medical Genetics 2011 12:125
    Content type: Research article Published on:

  39. Signalling by fibroblast growth factor receptor type 2 (FGFR2) normally involves a tissue-specific alternative splice choice between two exons (IIIb and IIIc), which generates two receptor isoforms (FGFR2b and...

    Authors: Aimee L Fenwick, Sarah C Bowdin, Regan EM Klatt and Andrew OM Wilkie
    Citation: BMC Medical Genetics 2011 12:122
    Content type: Case report Published on:

  40. Germ-line mutations in the BRCA1 and BRCA2 genes are major contributors to hereditary breast/ovarian cancer. Large rearrangements are less frequent in the BRCA2 gene than in BRCA1. We report, here, the first tota...

    Authors: Danièle Muller, Etienne Rouleau, Inès Schultz, Sandrine Caputo, Cédrick Lefol, Ivan Bièche, Olivier Caron, Catherine Noguès, Jean Marc Limacher, Liliane Demange, Rosette Lidereau, Jean Pierre Fricker and Joseph Abecassis
    Citation: BMC Medical Genetics 2011 12:121
    Content type: Research article Published on:

  41. Mutations in PEX1 are the most common primary cause of Zellweger syndrome. In addition to exonic mutations, deletions and splice site mutations two 5' polymorphisms at c.-137 and c.-53 with a potential influen...

    Authors: Sven Thoms, Sabine Grønborg, Jana Rabenau, Andreas Ohlenbusch, Hendrik Rosewich and Jutta Gärtner
    Citation: BMC Medical Genetics 2011 12:109
    Content type: Research article Published on:

  42. Hearing loss is a clinically and genetically heterogeneous disorder. Mutations in the DFNB1 locus have been reported to be the most common cause of autosomal recessive non-syndromic hearing loss worldwide. Apart ...

    Authors: Faiqa Imtiaz, Khalid Taibah, Khushnooda Ramzan, Ghada Bin-Khamis, Shelley Kennedy, Bashayer Al-Mubarak, Daniah Trabzuni, Rabab Allam, Abeer Al-Mostafa, Sameera Sogaty, Abdulmoneem H Al-Shaikh, Saeed S Bamukhayyar, Brian F Meyer and Mohammed Al-Owain
    Citation: BMC Medical Genetics 2011 12:91
    Content type: Research article Published on:

  43. Osteochondromas (cartilage-capped bone tumors) are by far the most commonly treated of all primary benign bone tumors (50%). In 15% of cases, these tumors occur in the context of a hereditary syndrome called m...

    Authors: Ivy Jennes, Danielle de Jong, Kirsten Mees, Pancras CW Hogendoorn, Karoly Szuhai and Wim Wuyts
    Citation: BMC Medical Genetics 2011 12:85
    Content type: Research article Published on:

  45. Temporomandibular disorder (TMD) is a multifactorial syndrome related to a critical period of human life. TMD has been associated with psychological dysfunctions, oxidative state and sexual dimorphism with coi...

    Authors: Angel Aneiros-Guerrero, Ana M Lendinez, Arturo R Palomares, Beatriz Perez-Nevot, Lidia Aguado, Alvaro Mayor-Olea, Maximiliano Ruiz-Galdon and Armando Reyes-Engel
    Citation: BMC Medical Genetics 2011 12:75
    Content type: Research article Published on:

  46. Pseudoachondroplasia (PSACH) is caused exclusively by mutations in the gene for cartilage oligomeric matrix protein (COMP). Only a small number of studies have documented the clinical phenotype and genetic basis ...

    Authors: Li Dai, Liang Xie, Yanping Wang, Meng Mao, Nana Li, Jun Zhu, Christopher Kim and Yawei Zhang
    Citation: BMC Medical Genetics 2011 12:72
    Content type: Case report Published on:

  47. Chromosome translocation associated with neurodevelopmental disorders provides an opportunity to identify new disease-associated genes and gain new insight into their function. During chromosome analysis, we i...

    Authors: Hsiao-Mei Liao, Jye-Siung Fang, Yann-Jang Chen, Kuang-Lun Wu, Kuei-Fang Lee and Chia-Hsiang Chen
    Citation: BMC Medical Genetics 2011 12:70
    Content type: Research article Published on:

  48. Chromosome abnormalities, especially trisomy of chromosome 21, 13, or 18 as well as sex chromosome aneuploidy, are a well-established cause of pregnancy loss. Cultured cell karyotype analysis and FISH have bee...

    Authors: Jing-Bin Yan, Miao Xu, Can Xiong, Da-Wen Zhou, Zhao-Rui Ren, Ying Huang, Monique Mommersteeg, Rinie van Beuningen, Ying-Tai Wang, Shi-Xiu Liao, Fanyi Zeng, Ying Wu and Yi-Tao Zeng
    Citation: BMC Medical Genetics 2011 12:68
    Content type: Technical advance Published on:

  49. 22q11.2 microdeletion is responsible for the DiGeorge Syndrome, characterized by heart defects, psychiatric disorders, endocrine and immune alterations and a 1 in 4000 live birth prevalence. Real-time quantita...

    Authors: Marcello Frigerio, Elena Passeri, Tiziana de Filippis, Daniela Rusconi, Rea Valaperta, Mario Carminati, Anita Donnangelo, Elena Costa, Luca Persani, Palma Finelli and Sabrina Corbetta
    Citation: BMC Medical Genetics 2011 12:61
    Content type: Technical advance Published on:

  50. Rod-cone dystrophy, also known as retinitis pigmentosa (RP), and cone-rod dystrophy (CRD) are degenerative retinal dystrophies leading to blindness. To identify new genes responsible for these diseases, we hav...

    Authors: Gaël Manes, Maxime Hebrard, Béatrice Bocquet, Isabelle Meunier, Delphine Coustes-Chazalette, Audrey Sénéchal, Anne Bolland-Augé, Diana Zelenika and Christian P Hamel
    Citation: BMC Medical Genetics 2011 12:54
    Content type: Research article Published on:

BMC Medical Genetics

ISSN: 1471-2350

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