Articles

Mutational analysis of the PITX2coding region revealed no common cause for transposition of the great arteries (dTGA)

PITX2 is a bicoid-related homeodomain transcription factor that plays an important role in asymmetric cardiogenesis. Loss of function experiments in mice cause severe heart malformations, including transpositi...

Authors: Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-Juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship and Gudrun Rappold

CYP3A4 and CYP3A5genotyping by Pyrosequencing

Human cytochrome P450 3A enzymes, particularly CYP3A4 and CYP3A5, play an important role in drug metabolism. CYP3A expression exhibits substantial interindividual variation, much of which may result from genet...

Authors: Adam A Garsa, Howard L McLeod and Sharon Marsh

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deleti...

Authors: Birgitt Schüle, Mohammed Albalwi, Emma Northrop, David I Francis, Margaret Rowell, Howard R Slater, RJ McKinlay Gardner and Uta Francke

The Familial Intracranial Aneurysm (FIA) study protocol

Subarachnoid hemorrhage (SAH) due to ruptured intracranial aneurysms (IAs) occurs in about 20,000 people per year in the U.S. annually and nearly half of the affected persons are dead within the first 30 days....

Authors: Joseph P Broderick, Laura R Sauerbeck, Tatiana Foroud, John Huston III, Nathan Pankratz, Irene Meissner and Robert D Brown Jr

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene

X-linked mental retardation (XLMR) is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and syndromic XLMR. The m...

Authors: Monica L Stepp, A Lauren Cason, Merran Finnis, Marie Mangelsdorf, Elke Holinski-Feder, David Macgregor, Andrée MacMillan, Jeanette JA Holden, Jozef Gecz, Roger E Stevenson and Charles E Schwartz

Detection of large deletions in the LDL receptor gene with quantitative PCR methods

Familial Hypercholesterolemia (FH) is a common genetic disease and at the molecular level most often due to mutations in the LDL receptor gene. In genetically heterogeneous populations, major structural rearra...

Authors: Dorte Damgaard, Peter H Nissen, Lillian G Jensen, Gitte G Nielsen, Anette Stenderup, Mogens L Larsen and Ole Faergeman

Polymorphism screening and haplotype analysis of the tryptophan hydroxylase gene (TPH1)and association with bipolar affective disorder in Taiwan

Disturbances in serotonin neurotransmission are implicated in the etiology of many psychiatric disorders, including bipolar affective disorder (BPD). The tryptophan hydroxylase gene (TPH), which codes for the enz...

Authors: Te-Jen Lai, Chia-Yen Wu, Hsu-Wen Tsai, Yi-Mei J Lin and H Sunny Sun

The GABBR1 locus and the G1465A variant is not associated with temporal lobe epilepsy preceded by febrile seizures

Polymorphism G1465A in the GABBR1 gene has been suggested as a risk factor for non-lesional temporal lobe epilepsy (TLE); however, this genetic association study has not been independently replicated. We attem...

Authors: Shaochun Ma, Bassel Abou-Khalil, James S Sutcliffe, Jonathan L Haines and Peter Hedera

First molecular screening of deafness in the Altai Republic population

We studied the molecular basis of NSHL in Republic of Altai (South Siberia, Russia). The Altaians are the indigenous Asian population of the Altai Mountain region considered as a melting-pot and a dispersion c...

Authors: Olga Posukh, Nathalie Pallares-Ruiz, Vera Tadinova, Ludmila Osipova, Mireille Claustres and Anne-Françoise Roux

Implication of the Pro12Ala polymorphism of the PPAR-gamma 2gene in type 2 diabetes and obesity in the French population

The Pro12Ala Single Nucleotide Polymorphism (SNP) of the Peroxisome Proliferator-Activated Receptor gamma 2 (PPAR-gamma 2) has been associated with insulin resistance and type 2 diabetes (T2D) and also inconsiste...

Authors: Maya Ghoussaini, David Meyre, Stéphane Lobbens, Guillaume Charpentier, Karine Clément, Marie-Aline Charles, Maïté Tauber, Jacques Weill and Philippe Froguel

Evaluation of SLC11A1as an inflammatory bowel disease candidate gene

Significant evidence suggests that a promoter polymorphism withinthe gene SLC11A1 is involved in susceptibility to both autoimmune and infectious disorders. The aim of this study was to evaluate whether SLC11A1 h...

Authors: Nigel PS Crawford, Maurice R Eichenberger, Daniel W Colliver, Robert K Lewis, Gary A Cobbs, Robert E Petras and Susan Galandiuk

Association between a variation in the phosphodiesterase 4D gene and bone mineral density

Fragility fractures caused by osteoporosis are a major cause of morbidity and mortality in aging populations. Bone mineral density (BMD) is a useful surrogate marker for risk of fracture and is a highly herita...

Authors: Richard H Reneland, Steven Mah, Stefan Kammerer, Carolyn R Hoyal, George Marnellos, Scott G Wilson, Philip N Sambrook, Tim D Spector, Matthew R Nelson and Andreas Braun

SNP genotyping to screen for a common deletion in CHARGE Syndrome

CHARGE syndrome is a complex of birth defects including coloboma, choanal atresia, ear malformations and deafness, cardiac defects, and growth delay. We have previously hypothesized that CHARGE syndrome could ...

Authors: Seema R Lalani, Arsalan M Safiullah, Susan D Fernbach, Michael Phillips, Carlos A Bacino, Laura M Molinari, Nancy L Glass, Jeffrey A Towbin, William J Craigen and John W Belmont

Theories of schizophrenia: a genetic-inflammatory-vascular synthesis

Schizophrenia, a relatively common psychiatric syndrome, affects virtually all brain functions yet has eluded explanation for more than 100 years. Whether by developmental and/or degenerative processes, abnorm...

Authors: Daniel R Hanson and Irving I Gottesman

Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia

Familial hypercholesterolemia is a human monogenic disease caused by population-specific mutations in the low density lipoprotein (LDL) receptor gene. Despite thirteen different mutations of the LDL receptor g...

Authors: Faina M Zakharova, Dorte Damgaard, Michail Y Mandelshtam, Valery I Golubkov, Peter H Nissen, Gitte G Nilsen, Anette Stenderup, Boris M Lipovetsky, Vladimir O Konstantinov, Alexander D Denisenko, Vadim B Vasilyev and Ole Faergeman

A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

Familial Juvenile Hyperuricemic Nephropathy is an autosomal dominant nephropathy, characterized by decreased urate excretion and progressive interstitial nephritis. Mutations in the uromodulin coding UMOD gene...

Authors: Joaquim Calado, Augusta Gaspar, Carla Clemente and José Rueff

Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension

Rare mutations of the epithelial sodium channel (ENaC) result in the monogenic hypertension form of Liddle's syndrome. We decided to screen for common variants in the ENaC βand γ subunits in patients with esse...

Authors: Tuula Hannila-Handelberg, Kimmo Kontula, Ilkka Tikkanen, Tuula Tikkanen, Frej Fyhrquist, Karri Helin, Heidi Fodstad, Kirsi Piippo, Helena E Miettinen, Jarmo Virtamo, Tom Krusius, Seppo Sarna, Ivan Gautschi, Laurent Schild and Timo P Hiltunen

Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder

Autism is a behavioral disorder with impaired social interaction, communication, and repetitive and stereotypic behaviors. About 5–10 % of individuals with autism have 'secondary' autism in which an environmen...

Authors: Kavita S Reddy

Neural progenitor cells from an adult patient with fragile X syndrome

Currently, there is no adequate animal model to study the detailed molecular biochemistry of fragile X syndrome, the leading heritable form of mental impairment. In this study, we sought to establish the use o...

Authors: Philip H Schwartz, Flora Tassone, Claudia M Greco, Hubert E Nethercott, Boback Ziaeian, Randi J Hagerman and Paul J Hagerman

Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates

Autism is a neurobehavioral spectrum of phenotypes characterized by deficits in the development of language and social relationships and patterns of repetitive, rigid and compulsive behaviors. Twin and family ...

Authors: Jacob L McCauley, Chun Li, Lan Jiang, Lana M Olson, Genea Crockett, Kimberly Gainer, Susan E Folstein, Jonathan L Haines and James S Sutcliffe

Catechol-O-Methyltransferase (COMT) Val ^108/158 Metpolymorphism does not modulate executive function in children with ADHD

An association has been observed between the catechol-O-methyltransferase (COMT) gene, the predominant means of catecholamine catabolism within the prefrontal cortex (PFC), and neuropsychological task performance...

Authors: Evan Taerk, Natalie Grizenko, Leila Ben Amor, Philippe Lageix, Valentin Mbekou, Rosherie Deguzman, Adam Torkaman-Zehi, Marina Ter Stepanian, Chantal Baron and Ridha Joober

Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population

Homozygosity or compound heterozygosity for coding region mutations of the hemojuvelin gene (HJV) in whites is a cause of early age-of-onset iron overload (juvenile hemochromatosis), and of hemochromatosis phenot...

Authors: James C Barton, Charles A Rivers, Sandrine Niyongere, Sean B Bohannon and Ronald T Acton

Men's values-based factors on prostate cancer risk genetic testing: A telephone survey

While a definitive genetic test for Hereditary Prostate Cancer (HPC) is not yet available, future HPC risk testing may become available. Past survey data have shown high interest in HPC testing, but without an...

Authors: David J Doukas and Yuelin Li

Neural network analysis in pharmacogenetics of mood disorders

The increasing number of available genotypes for genetic studies in humans requires more advanced techniques of analysis. We previously reported significant univariate associations between gene polymorphisms a...

Authors: Alessandro Serretti and Enrico Smeraldi

CLC-2 single nucleotide polymorphisms (SNPs) as potential modifiers of cystic fibrosis disease severity

Cystic fibrosis (CF) lung disease manifest by impaired chloride secretion leads to eventual respiratory failure. Candidate genes that may modify CF lung disease severity include alternative chloride channels. ...

Authors: Carol J Blaisdell, Timothy D Howard, Augustus Stern, Penelope Bamford, Eugene R Bleecker and O Colin Stine

HLA haplotypes associated with hemochromatosis mutations in the Spanish population

The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for...

Authors: Arantza Pacho, Esther Mancebo, Manuel J del Rey, Maria J Castro, Desamparados Oliver, Miguel García-Berciano, Luis González and Pablo Morales

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10). TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In ...

Authors: Zubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, Saima Riazuddin, Terry-Lynn Young, Khushnooda Ramzan, Zahoor Ahmad, Sandra Luscombe, Kiran Dhillon, Linda MacLaren, Barbara Ploplis, Lawrence I Shotland, Elizabeth Ives, Sheikh Riazuddin, Thomas B Friedman, Robert J Morell…

What is the impact of the ACE gene insertion/deletion (I/D) polymorphism on the clinical effectiveness and adverse events of ACE inhibitors? – Protocol of a systematic review

The Angiotensin Converting Enzyme (ACE) insertion/deletion (I/D) polymorphism has received much attention in pharmacogenetic research because observed variations in response to ACE inhibitors might be associat...

Authors: M Scharplatz, MA Puhan, J Steurer and LM Bachmann

TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation

The TM4SF10 gene encodes a putative four-transmembrane domains protein of unknown function termed Brain Cell Membrane Protein 1 (BCMP1), and is abundantly expressed in the brain. This gene is located on the sh...

Authors: Christiane Christophe-Hobertus, Frank Kooy, Jozef Gecz, Marc J Abramowicz, Elke Holinski-Feder, Charles Schwartz and Daniel Christophe

A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation

Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK term...

Authors: Ben S Pickard, Edward J Hollox, M Pat Malloy, David J Porteous, Douglas HR Blackwood, John AL Armour and Walter J Muir

Candidate high myopia loci on chromosomes 18p and 12q do not play a major role in susceptibility to common myopia

To determine whether previously reported loci predisposing to nonsyndromic high myopia show linkage to common myopia in pedigrees from two ethnic groups: Ashkenazi Jewish and Amish. We hypothesized that these ...

Authors: Grace Ibay, Betty Doan, Lauren Reider, Debra Dana, Melissa Schlifka, Heping Hu, Taura Holmes, Jennifer O'Neill, Robert Owens, Elise Ciner, Joan E Bailey–Wilson and Dwight Stambolian

Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations ?

To contribute further to the classification of three CFTR amino acid changes (p.I148T, p.R74W and p.D1270N) either as CF or CBAVD-causing mutations or as neutral variations.

Authors: Mireille Claustres, Jean-Pierre Altiéri, Caroline Guittard, Carine Templin, Françoise Chevalier-Porst and Marie Des Georges

The impact of population heterogeneity on risk estimation in genetic counseling

Genetic counseling has been an important tool for evaluating and communicating disease susceptibility for decades, and it has been applied to predict risks for a wide class of hereditary disorders. Most diseas...

Authors: Wenlei Liu, Nikolina Icitovic, Michele L Shaffer and Gary A Chase

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment

Thirty-nine patients have been described with deletions involving chromosome 6p25. However, relatively few of these deletions have had molecular characterization. Common phenotypes of 6p25 deletion syndrome pa...

Authors: Douglas B Gould, Mohamad S Jaafar, Mark K Addison, Francis Munier, Robert Ritch, Ian M MacDonald and Michael A Walter

HNPCC: Six new pathogenic mutations

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR). HNPCC...

Authors: Erdmute Kunstmann, Judith Vieland, Frank E Brasch, Stephan A Hahn, Joerg T Epplen, Karsten Schulmann and Wolff Schmiegel

Analysis of polymorphic TGFB1codons 10, 25, and 263 in a German patient group with non-syndromic cleft lip, alveolus, and palate compared with healthy adults

Clefts of the lip, alveolus, and palate (CLPs) rank among the most frequent and significant congenital malformations. Leu10Pro and Arg25Pro polymorphisms in the precursor region and Thr263Ile polymorphism in t...

Authors: Christian Stoll, Senait Mengsteab, Doris Stoll, Dieter Riediger, Axel M Gressner and Ralf Weiskirchen

TP73allelic expression in human brain and allele frequencies in Alzheimer's disease

The p73 protein, a paralogue of the p53 tumor suppressor, is essential for normal development and survival of neurons. TP73 is therefore of interest as a candidate gene for Alzheimer's disease (AD) susceptibility...

Authors: Quanyi Li, Eleni S Athan, Michelle Wei, Eric Yuan, Samuel L Rice, Jean-Paul Vonsattel, Richard P Mayeux and Benjamin Tycko

Elevated white cell count in acute coronary syndromes: relationship to variants in inflammatory and thrombotic genes

Elevated white blood cell counts (WBC) in acute coronary syndromes (ACS) increase the risk of recurrent events, but it is not known if this is exacerbated by pro-inflammatory factors. We sought to identify whe...

Authors: Connie E Byrne, Anthony Fitzgerald, Christopher P Cannon, Desmond J Fitzgerald and Denis C Shields

Examination of NRCAM, LRRN3, KIAA0716, and LAMB1as autism candidate genes

A substantial body of research supports a genetic involvement in autism. Furthermore, results from various genomic screens implicate a region on chromosome 7q31 as harboring an autism susceptibility variant. W...

Authors: Holli B Hutcheson, Lana M Olson, Yuki Bradford, Susan E Folstein, Susan L Santangelo, James S Sutcliffe and Jonathan L Haines

Erratum to: Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients

Authors: Dominique P Germain, Paul Avan, Augustin Chassaing and Pierre Bonfils

A case of autism with an interstitial deletion on 4q leading to hemizygosity for genes encoding for glutamine and glycine neurotransmitter receptor sub-units (AMPA 2, GLRA3, GLRB) and neuropeptide receptors NPY1R, NPY5R

Autism is a pervasive developmental disorder characterized by a triad of deficits: qualitative impairments in social interactions, communication deficits, and repetitive and stereotyped patterns of behavior. A...

Authors: Subhadra Ramanathan, Abigail Woodroffe, Pamela L Flodman, Lee Z Mays, Mona Hanouni, Charlotte B Modahl, Robin Steinberg-Epstein, Maureen E Bocian, M Anne Spence and Moyra Smith

PAX6 gene variations associated with aniridia in south India

Mutations in the transcription factor gene PAX6 have been shown to be the cause of the aniridia phenotype. The purpose of this study was to analyze patients with aniridia to uncover PAX6 gene mutations in south I...

Authors: Guruswamy Neethirajan, Subbaiah Ramasamy Krishnadas, Perumalsamy Vijayalakshmi, Shetty Shashikant and Periasamy Sundaresan

Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy

Cystic fibrosis (CF) is a multisystem disorder characterised by mutations of the CFTR gene, which encodes for an important component in the coordination of electrolyte movement across of epithelial cell membranes...

Authors: Maria Rosaria D'Apice, Stefano Gambardella, Mario Bengala, Silvia Russo, Anna Maria Nardone, Vincenzina Lucidi, Federica Sangiuolo and Giuseppe Novelli

Glutathione S-Transferase Ω 1 variation does not influence age at onset of Huntington's disease

Huntington's disease (HD) is a fully penetrant, autosomal dominantly inherited disorder associated with abnormal expansions of a stretch of perfect CAG repeats in the 5' part of the IT15 gene. The number of repea...

Authors: Larissa Arning, Peter Jagiello, Stefan Wieczorek, Carsten Saft, Jürgen Andrich and Jörg T Epplen

NAT gene polymorphisms and susceptibility to Alzheimer's disease: identification of a novel NAT1 allelic variant

Alzheimer's disease is multifactorial, having environmental, toxicological and genetic risk factors. Impaired folate and homocysteine metabolism has been hypothesised to increase risk. In addition to its xenob...

Authors: Nichola Johnson, Peter Bell, Vesna Jonovska, Marc Budge and Edith Sim

Molecular epidemiology of DFNB1 deafness in France

Mutations in the GJB2 gene have been established as a major cause of inherited non syndromic deafness in different populations. A high number of sequence variations have been described in the GJB2 gene and the as...

Authors: Anne-Françoise Roux, Nathalie Pallares-Ruiz, Anne Vielle, Valérie Faugère, Carine Templin, Dorothée Leprevost, Françoise Artières, Geneviève Lina, Nicolas Molinari, Patricia Blanchet, Michel Mondain and Mireille Claustres

Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects

Familial mediterranean fever (FMF) is a recessively inherited disease characterized by recurrent crises of fever, abdominal, articular and/or thoracic pain. The most severe complication is the development of r...

Authors: Myrna Medlej-Hashim, Valérie Delague, Eliane Chouery, Nabiha Salem, Mohammed Rawashdeh, Gérard Lefranc, Jacques Loiselet and André Mégarbané

A study of the average effect of the 3'APOB-VNTR polymorphism on lipidemic parameters could explain why the short alleles (<35 repeats) are rare in centenarians

In studies on the genetics of human aging, we observed an age-related variation of the 3'APOB-VNTR genotypic pool (alleles: Short, S, <35 repeats; Medium, M, 35–39 repeats; Long, L, >39 repeats) with the homozygo...

Authors: Sabrina Garasto, Maurizio Berardelli, Francesco DeRango, Vincenzo Mari, Emidio Feraco and Giovanna De Benedictis

Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

We have previously developed a long RT-PCR method for selective amplification of full-length PKD1 transcripts (13.6 kb) and a long-range PCR for amplification in the reiterated region (18 kb) covering exons 14 an...

Authors: Wanna Thongnoppakhun, Chanin Limwongse, Kriengsak Vareesangthip, Chintana Sirinavin, Duangkamon Bunditworapoom, Nanyawan Rungroj and Pa-thai Yenchitsomanus

A case of familial isolated hemihyperplasia

Hemihyperplasia (hemihypertrophy) is defined as asymmetric body overgrowth of one or more body parts. Hemihyperplasia can be isolated or be part of well-defined syndromes such as in the case of Beckwith-Wiedem...

Authors: Heidi A Heilstedt and Carlos A Bacino