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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. Recessive genes cause disease when both copies are affected by mutant loci. Resolving the cis/trans relationship of variations has been an important problem both for researchers, and increasingly, clinicians. Of ...

    Authors: Kendall W Cradic, Stephen J Murphy, Travis M Drucker, Robert A Sikkink, Norman L Eberhardt, Claudia Neuhauser, George Vasmatzis and Stefan KG Grebe

    Citation: BMC Medical Genetics 2014 15:19

    Content type: Technical advance

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  2. Deletion of the subtelomeric region of 1p36 is one of the most common subtelomeric deletion syndromes. In monosomy 1p36, the presence of obesity is poorly defined, and glucose metabolism deficiency is rarely r...

    Authors: Stefano Stagi, Elisabetta Lapi, Marilena Pantaleo, Francesco Chiarelli, Salvatore Seminara and Maurizio de Martino

    Citation: BMC Medical Genetics 2014 15:16

    Content type: Case report

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  3. Kabuki syndrome (KS) is a rare, multiple congenital anomalies/intellectual disability syndrome caused by mutations of MLL2 gene, which codifies for a histone methyltrasferase that regulates the embryogenesis and ...

    Authors: Gerarda Cappuccio, Alessandro Rossi, Paolo Fontana, Emma Acampora, Valeria Avolio, Giuseppe Merla, Leopoldo Zelante, Aurelio Secinaro, Generoso Andria and Daniela Melis

    Citation: BMC Medical Genetics 2014 15:15

    Content type: Case report

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  4. Noonan syndrome is an autosomal dominant developmental disorder with a high phenotypic variability, which shares clinical features with other rare conditions, including LEOPARD syndrome, cardiofaciocutaneous s...

    Authors: Francesca Romana Lepri, Rossana Scavelli, Maria Cristina Digilio, Maria Gnazzo, Simona Grotta, Maria Lisa Dentici, Elisa Pisaneschi, Pietro Sirleto, Rossella Capolino, Anwar Baban, Serena Russo, Tiziana Franchin, Adriano Angioni and Bruno Dallapiccola

    Citation: BMC Medical Genetics 2014 15:14

    Content type: Research article

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  5. A pediatric patient presented with rapidly progressive vision loss, nyctalopia and retinal dystrophy. This is the first report of homozygosity for the p.Arg602Trp mutation in the ABCA4 gene. The child became lega...

    Authors: Maria Carolina Ortube, Samuel P Strom, Stanley F Nelson, Steven Nusinowitz, Ariadna Martinez and Michael B Gorin

    Citation: BMC Medical Genetics 2014 15:11

    Content type: Case report

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  6. SRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. All the mutations are recessive and truncating.

    Authors: Bülent Kara, Özgecan Ayhan, Gülden Gökçay, Nurdan Başboğaoğlu and Aslıhan Tolun

    Citation: BMC Medical Genetics 2014 15:10

    Content type: Case report

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  7. Disorders of sex development (DSD) is the term used for congenital conditions in which development of chromosomal, gonadal, or phenotypic sex is atypical. Nuclear receptor subfamily 5, group A, member 1 gene (NR5...

    Authors: Helena Campos Fabbri, Juliana Gabriel Ribeiro de Andrade, Fernanda Caroline Soardi, Flávia Leme de Calais, Reginaldo José Petroli, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior and Maricilda Palandi de Mello

    Citation: BMC Medical Genetics 2014 15:7

    Content type: Case report

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  8. The major intrinsic protein gene (MIP), also known as MIP26 or AQP0, is a member of the water-transporting aquaporin family, which plays a critical role in the maintenance of lifelong lens transparency. To date, ...

    Authors: Yibo Yu, Yinhui Yu, Peiqing Chen, Jinyu Li, Yanan Zhu, Yi Zhai and Ke Yao

    Citation: BMC Medical Genetics 2014 15:6

    Content type: Research article

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  9. Familial renal hypouricemia (RHUC) is a hereditary disease characterized by hypouricemia, high renal fractional excretion of uric acid (FE-UA) and can be complicated by acute kidney failure and nephrolithiasis...

    Authors: Guido Jeannin, Nicola Chiarelli, Mario Gaggiotti, Marco Ritelli, Paolo Maiorca, Stefano Quinzani, Federica Verzeletti, Stefano Possenti, Marina Colombi and Giovanni Cancarini

    Citation: BMC Medical Genetics 2014 15:3

    Content type: Case report

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  10. 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the c...

    Authors: Emilia Cirillo, Giuliana Giardino, Vera Gallo, Pamela Puliafito, Chiara Azzari, Rosa Bacchetta, Fabio Cardinale, Maria Pia Cicalese, Rita Consolini, Silvana Martino, Baldassarre Martire, Cristina Molinatto, Alessandro Plebani, Gioacchino Scarano, Annarosa Soresina, Caterina Cancrini…

    Citation: BMC Medical Genetics 2014 15:1

    Content type: Research article

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  11. Germline genetic testing for familial cancer syndromes is usually performed serially for the most likely genetic causes. In recent years the way genetic testing carried out has changed, as next generation sequ...

    Authors: Ellen Heitzer, Sigurd Lax, Ingrid Lafer, Stephanie M Müller, Gunda Pristauz, Peter Ulz, Stephan Jahn, Christoph Högenauer, Edgar Petru, Michael R Speicher and Jochen B Geigl

    Citation: BMC Medical Genetics 2013 14:129

    Content type: Case report

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  12. The hereditary hemorrhagic telangiectasia syndrome (HHT), also known as the Rendu–Osler-Weber syndrome is a multiorganic vascular disorder inherited as an autosomal dominant trait. Diagnostic clinical criteria...

    Authors: Ana Fontalba, Jose L Fernández-Luna, Roberto Zarrabeitia, Lucia Recio-Poveda, Virginia Albiñana, Maria L Ojeda-Fernández, Carmelo Bernabéu, Luis A Alcaraz and Luisa M Botella

    Citation: BMC Medical Genetics 2013 14:121

    Content type: Research article

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  13. Partial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes. The karyotype in PGD is 46,X...

    Authors: Ana Paula dos Santos, Juliana Gabriel Ribeiro Andrade, Cristiane Santos Cruz Piveta, Juliana de Paulo, Gil Guerra-Junior, Maricilda Palandi de Mello and Andréa Trevas Maciel-Guerra

    Citation: BMC Medical Genetics 2013 14:115

    Content type: Research article

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  14. Meningioma was the first solid tumor shown to contain a recurrent genetic alteration e.g. monosomy 22/del(22q), NF2 being the most relevant gene involved. Although monosomy 22/del(22q) is present in half of all m...

    Authors: MariaDolores Tabernero, María Jara-Acevedo, Ana B Nieto, Arancha Rodríguez Caballero, Álvaro Otero, Pablo Sousa, Jesús Gonçalves, Patricia H Domingues and Alberto Orfao

    Citation: BMC Medical Genetics 2013 14:114

    Content type: Research article

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  15. Imerslund-Gräsbeck Syndrome (IGS) is a rare genetic disorder characterised by juvenile megaloblastic anaemia. IGS is caused by mutations in either of the genes encoding the intestinal intrinsic factor-vitamin B12

    Authors: Tina Storm, Christina Zeitz, Olivier Cases, Sabine Amsellem, Pierre J Verroust, Mette Madsen, Jean-François Benoist, Sandrine Passemard, Sophie Lebon, Iben Møller Jønsson, Francesco Emma, Heidi Koldsø, Jens Michael Hertz, Rikke Nielsen, Erik I Christensen and Renata Kozyraki

    Citation: BMC Medical Genetics 2013 14:111

    Content type: Research article

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  16. Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to its cognate transfer RNA and therefore plays an essential role in protein biosynthesis.

    Authors: Eline van Meel, Daniel J Wegner, Paul Cliften, Marcia C Willing, Frances V White, Stuart Kornfeld and F Sessions Cole

    Citation: BMC Medical Genetics 2013 14:106

    Content type: Research article

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  17. Disorders of oxidative phosphorylation affects 1/5000 individuals and present heterogeneous involvement of tissues highly dependent upon ATP production.

    Authors: Monica Bandettini di Poggio, Claudia Nesti, Claudio Bruno, Maria Chiara Meschini, Angelo Schenone and Filippo M Santorelli

    Citation: BMC Medical Genetics 2013 14:105

    Content type: Case report

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  18. Chromosomal instability is a hallmark of human cancer caused by errors in mitotic control and chromosome segregation. STAG2 encodes a subunit of the cohesion complex that participates in mitotic chromatid separat...

    Authors: Anna Djos, Susanne Fransson, Per Kogner and Tommy Martinsson

    Citation: BMC Medical Genetics 2013 14:102

    Content type: Research article

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  19. We report on a patient with genetically confirmed overlapping diagnoses of CMT1A and FSHD. This case adds to the increasing number of unique patients presenting with atypical phenotypes, particularly in FSHD. ...

    Authors: Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser and Maggie C Walter

    Citation: BMC Medical Genetics 2013 14:92

    Content type: Case report

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  20. Mutations in the PTRF gene, coding for cavin-1, cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. In CGL4, symptoms are variable comprising, in addition to myopathy, smooth and sk...

    Authors: Anna Ardissone, Cinzia Bragato, Lorella Caffi, Flavia Blasevich, Sabrina Maestrini, Maria Luisa Bianchi, Lucia Morandi, Isabella Moroni and Marina Mora

    Citation: BMC Medical Genetics 2013 14:89

    Content type: Case report

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  21. The clinical features of mitochondrial disease are complex and highly variable, leading to challenges in establishing a specific diagnosis. Despite being one of the most commonly occurring inherited genetic di...

    Authors: William J Craigen, Brett H Graham, Lee-Jun Wong, Fernando Scaglia, Richard Alan Lewis and Penelope E Bonnen

    Citation: BMC Medical Genetics 2013 14:83

    Content type: Research article

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  22. Keratitis-Ichthyosis-Deafness (KID) syndrome (OMIM 148210) is a congenital ectodermal defect that consists of an atypical ichthyosiform erythroderma associated with congenital sensorineural deafness. KID appea...

    Authors: Ambroise Wonkam, Jean Jacques N Noubiap, Jason Bosch, Collet Dandara and Geneviève Bengono Toure

    Citation: BMC Medical Genetics 2013 14:81

    Content type: Case report

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  23. Fragile X Syndrome (FXS), the most common cause of familiar mental retardation, is associated in over 99% of cases to an expansion over 200 repeats of a CGG sequence in the 5’ UTR of the FMR1 gene (Xq27.3), leadi...

    Authors: Valentina Gatta, Elena Gennaro, Sara Franchi, Massimiliano Cecconi, Ivana Antonucci, Marco Tommasi, Giandomenico Palka, Domenico Coviello, Liborio Stuppia and Marina Grasso

    Citation: BMC Medical Genetics 2013 14:79

    Content type: Research article

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  24. 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

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  25. 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

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  26. 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

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  27. 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

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  28. 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

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  29. 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

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  30. 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

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  31. 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

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  32. 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

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  33. 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

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  34. 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

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  35. 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

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  36. 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

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  37. 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

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  38. 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

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  39. 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

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  40. 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

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  41. 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

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  42. 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

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  43. 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

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  44. 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

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  45. 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

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  46. 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

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  47. 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

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