Beeks E, Janssen RG, Kroon AA, Keulen ET, Geurts JM, de Leeuw PW, de Bruin TW. Association between the a-adducin Gly460Trp polymorphism and systolic blood pressure in familial combined hyperlipidemia. Am J Hyperten. 2001 Dec;14(12):1185-1190.

Loos RJ, Beunen G, Fagard R, Derom C, Vlietinck R. Birth weight and body composition in young adult men--a prospective twin study. Int J Obes Relat Metab Disord. 2001 Oct;25(10):1537-45.


Loos RJ, Beunen G, Fagard R, Derom C, Vlietinck R. The Influence of Zygosity and Chorion Type on Fat Distribution in Young Adult Twins: Consequences for Twin Studies. Twin.Res. 2001 Oct;4(5):356-64.


Loos RJ, Fagard R, Beunen G, Derom C, Vlietinck R. Birth weight and blood pressure in young adults: a prospective twin study. Circulation. 2001 Oct 2;104(14):1633-8.


van Os J, Wichers M, Danckaerts M, Van Gestel S, Derom C, Vlietinck R. A prospective twin study of birth weight discordance and child problem behavior. Biol Psychiatry. 2001 Oct 15;50(8):593-9.


Eurlings PM, van der Kallen CJ, Geurts JM, van Greevenbroek MM, de Bruin TW. Genetic dissection of familial combined hyperlipidemia. Mol Genet Metab. 2001 Sep-Oct;74(1-2):98-104.

Loos RJ, Derom C, Derom R, Vlietinck R. Birthweight in liveborn twins: the influence of the umbilical cord insertion and fusion of placentas. BJOG. 2001 Sep;108(9):943-8.

Carels C, Van Cauwenberghe N, Savoye I, Willems G, Loos R, Derom C, Vlietinck R. A quantitative genetic study of cephalometric variables in twins. Clin Orthod Res. 2001 Aug;4(3):130-40.


Loos RJ, Derom C, Eeckels R, Derom R, Vlietinck R. Length of gestation and birthweight in dizygotic twins. Lancet. 2001 Aug 18;358(9281):560-1.

Wichers MC, van Os J, Danckaerts M, Van Gestel S, Derom C, Vlietinck R. Associations between nonshared environment and child problem behaviour. Soc Psychiatry Psychiatr Epidemiol. 2001 Jul;36(7):319-23.


Eerens K, Vlietinck R, Heidbuchel K, Van Olmen A, Derom C, Willems G, Carels C. Hypodontia and Tooth Formation in Groups of Children With Cleft, Siblings Without Cleft, and Nonrelated Controls. Cleft Palate Craniofac J. 2001 Jul;38(4):374-378.


Derom R, Bryan E, Derom C, Keith L, Vlietinck R. Twins, chorionicity and zygosity. Twin Res. 2001 Jun;4(3):134-6.

Bustami R, Lesaffre E, Molenberghs G, Loos R, Danckaerts M, Vlietinck R. Modelling bivariate ordinal responses smoothly with examples from ophthalmology and genetics. Stat Med. 2001 Jun 30;20(12):1825-42.


Vinck WJ, Fagard RH, Loos R, Vlietinck R. The impact of genetic and environmental influences on blood pressure variance across age-groups. J Hypertens. 2001 Jun;19(6):1007-13. 


Staessen JA, Nawrot T, Hond ED, Thijs L, Fagard R, Hoppenbrouwers K, Koppen G, Nelen V, Schoeters G, Vanderschueren D, Van Hecke E, Verschaeve L, Vlietinck R, Roels HA. Renal function, cytogenetic measurements, and sexual development in adolescents in relation to environmental pollutants: a feasibility study of biomarkers. Lancet. 2001 May 26;357(9269):1660-9.


Loos RJ, Beunen G, Fagard R, Derom C, Vlietinck R, Phillips DI. Twin studies and estimates of heritability. Lancet. 2001 May 5;357(9266):1445. No abstract available.

Rector A, Vermeire S, Thoelen I, Keyaerts E, Struyf F, Vlietinck R, Rutgeerts P, Van Ranst M. Analysis of the CC chemokine receptor 5 (CCR5) delta-32 polymorphism in inflammatory bowel disease. Hum Genet. 2001 Mar;108(3):190-3.

Vermeire S, Satsangi J, Peeters M, Parkes M, Jewell DP, Vlietinck R, Rutgeerts P. Evidence for inflammatory bowel disease of a susceptibility locus on the X chromosome. Gastroenterology. 2001 Mar;120(4):834-40.


Jacob N, Van Gestel S, Derom C, Thiery E, Vernon P, Derom R, Vlietinck R. Heritability estimates of intelligence in twins: effect of chorion type. Behav Genet. 2001 Mar;31(2):209-17.

van Larebeke N, Hens L, Schepens P, Covaci A, Baeyens J, Everaert K, Bernheim JL, Vlietinck R, De Poorter G. The Belgian PCB and dioxin incident of January-June 1999: exposure data and potential impact on health. Environ Health Perspect. 2001 Mar;109(3):265-73.


Jacobs N, Van Gestel S, Derom C, Thiery E, Vernon P, Derom R, Vlietinck R. Heritability estimates of intelligence in twins: effect of chorion type. Behav Genet. 2001 Mar;31(2):209-17.

van Larebeke N, Hens L, Schepens P, Covaci A, Baeyens J, Everaert K, Bernheim JL, Vlietinck R, De Poorter G. The Belgian PCB and dioxin incident of January-June 1999: exposure data and potential impact on health. Environ Health Perspect. 2001 Mar;109(3):265-73.


Peeters M, Joossens S, Vermeire S, Vlietinck R, Bossuyt X, Rutgeerts P. Diagnostic value of anti-Saccharomyces cerevisiae and antineutrophil cytoplasmic autoantibodies in inflammatory bowel disease. Am J Gastroenterol. 2001 Mar;96(3):730-4.


Rector A, Vermeire S, Thoelen I, Keyaerts E, Struyf F, Vlietinck R, Rutgeerts P, Van Ranst M. Analysis of the CC chemokine receptor 5 (CCR5) delta-32 polymorphism in inflammatory bowel disease. Hum Genet. 2001 Mar;108(3):190-3.


Vermeire S, Joossens S, Peeters M, Monsuur F, Marien G, Bossuyt X, Groenen P, Vlietinck R, Rutgeerts P. Comparative study of ASCA (Anti-Saccharomyces cerevisiae antibody) assays in inflammatory bowel disease. Gastroenterology. 2001 Mar;120(4):827-33.


Vermeire S, Satsangi J, Peeters M, Parkes M, Jewell DP, Vlietinck R, Rutgeerts P. Evidence for inflammatory bowel disease of a susceptibility locus on the X chromosome. Gastroenterology. 2001 Mar;120(4):834-40.


Vermeire S, Peeters M, Vlietinck R, Joossens S, Den Hond E, Bulteel V, Bossuyt X, Geypens B, Rutgeerts P. Anti-Saccharomyces cerevisiae antibodies (ASCA), phenotypes of IBD, and intestinal permeability: a study in IBD families. Inflamm Bowel Dis. 2001 Feb;7(1):8-15.


Derom C, Groenen P, Vlietinck R. Follicle-stimulating-hormone receptor and twinning. Lancet. 2001 Jan 20;357(9251):230-1; discussion 231-2.

Lindsey, P.J. Time alignment of repeated measurements in the analyses of several veterinary clinical trials. Journal of Agricultural, Biological, and Environmental Statistics 6, 2001, 429-448.

Lindsey, J.K. and Lindsey, P.J. Detecting covariates with non-random missing values in a survey of primary education in Madagascar. Journal of the Royal Statistical Society A A164, 2001, 327-338.

Carels C, Eerens K, Heidbuchel K, Verdonck A,Willems G,Vlietinck R. Dental age and hypodontia in cleft and non-cleft siblings. J Dent Res 2001, 80(4):1299.

Peeters MW, Maes HHM, Thomis MA, Loos R, Claessens AL, Lysens R, Vanden Eynde B, Vlietinck R, Beunen GP. Evolution of genetic and environmental influences on regional fat distribution from early adolescence to young adulthood. Behav Genet 2001, 31(5):464.

Thomis MAI, Maes HHM, Peeters M, Loos R, Lysens R, Claessens AL, Vanden Eynden B, Vlietinck R, Beunen G. Genetic control of skeletal maturation during growth. Behav Genet 2001, 31(5):471

 

 

POSTERS

ESHG

European Directory of DNA Laboratories - A registry which endeavours to spread information among European labs involved in the diagnosis of genetic disorders
E. Ngalula Kabanga1, C. Ramirez-Albott1, D. Barton2, H. Boman3, M. Cardoso4, B. Dallapiccola5, M. Delpech6, R. Elles7, X. Estivill8, C. Fonatsch9, E. Kavanakis10, C. Muller11, M. Nordenskjold12, A. Orpana13, D. F. Schorderet14, M. Schwartz15, H. Smeets16, A. Verloes17, L. Van Maldergem1 1Centre de Genetique Humaine, Institut de Pathologie et de G n tique; Loverval, Belgium; 2National Centre for Medical Genetics; Dublin, Ireland; 3Haukeland Hospital; Bergen, Norway; 4Instituto de Genetica Medica Jacinto de Magalhaes; Porto, Portugal; 5University La Sapienza; Roma, Italy; 6Universit Ren Descartes; Paris, France; 7St Mary s Hospital; Manchester, United Kingdom; 8Hospital Duran i Reynals; Barcelona, Spain; 9Institut fur Medizinische Biologie; Wien, Austria; 10St Sophia s Children s Hospital; Athens, Greece; 11University of Wuerzburg; Wuerzburg, Germany; 12Karolinska Hospital; Stockholm, Sweden; 13University of Helsinki; Helsinki, Finland; 14Centre hospitalier Universitaire Vaudois; Lausane, Switzerland; 15Dept of Clinical Genetics, Rigshospitalet; Copenhagen, Denmark; 16Stichting Klinische Genetica Zuid-Oost Nederland; Maastricht, The Netherlands; 17Centre Universitaire Wallon de G n tique; Liege, Belgium eddnal@skypro.be In 1995, the need for a comprehensive directory of genetic laboratories at a European level, as well as a listing of the services they could offer, led to the establishment of the European Directory of DNA Laboratories (EDDNAL). An on-line version of this directory (www.eddnal.com) has been available on the net since January 1997. The on-line directory is designed to promote information exchange between European centres and to improve awareness of the availability of services for rare genetic conditions. EDDNAL currently provides information for 317 laboratories and lists services for 580 genetic conditions. Through constant updating of information, EDDNAL endeavours to improve completeness of the registry thereby facilitating professional usage. Furthermore, EDDNAL aims to improve the quality of the services provided by professionals through the promotion of laboratory participation in a quality assessment scheme. EDDNAL also intends to promote the diagnosis of very rare genetic diseases with a consequent improvement in both the handling of such conditions and in the genetic counselling provided. The development of the EDDNAL database and web-site should result in an overall decrease in the total cost of DNA diagnoses of rare genetic disorders due to a European concerted approach based on the prevalence of such disorders.

ASHG

Prenatal and Preimplantation Genetic Diagnosis (PGD) for carriers of mtDNA mutations.
H.J.M. Smeets1, J.G. Nijland1, L.J.A.M. Jacobs1, R.J.H. Galjaard2, H.R. Scholte2, H.F.M. Busch2, C.E.M. De Die1, J.P.M. Geraedts1, I.F.M. De Coo2. 1) Dept Genetics and Cell Biology, Univ Maastricht, Maastricht, Netherlands; 2) Depts Child Neurology, Biochemistry and Clinical Genetics, Erasmus University, Rotterdam. Options for carriers of mtDNA mutations to prevent transmission of these mutations to their offspring are limited. This is a major problem as it often concerns severe disorders with high recurrence risks. Recently, we screened the entire mtDNA of a patient with Leigh disease and identified the mtDNA T9176C mutation. Two other affected sibs carried the same mutation and mutation percentages varied between 93% and 97%. Their pregnant cousin also carried the mutation (55% in blood) and opted for prenatal diagnosis. Three criteria have been proposed for reliable prenatal investigations of mtDNA mutations: a close correlation between the proportion of mutant:wild-type mtDNA and disease severity; a uniform distribution of mutant mtDNA in all tissues; no change in mutant load in time. Based on existing, though limited data, the T9176C fulfils these criteria and the cut-off point for severe disease is about 90%. Prenatal investigations were performed on DNA from chorionic villus and amniotic cells and about 88% mutant mtDNA was detected in these tissues. Although the risk of a severely affected child was considerably, the pregnancy was continued. This family and data from literature illustrate that especially carriers with a high percentage mutated mtDNA are at risk of getting affected children. However, given the genetic bottleneck for mtDNA, these carriers may produce oocytes with low or absent amounts of mutant mtDNA. Therefore, we developed PGD protocols to select for embryos lacking mutated mtDNA. These protocols include the T8993G/C (NARP/Leigh), the T9176C (Leigh) and the A8344G (MERRF) mutation, but not the unpredictable A3243G (MELAS) mutation.

DNA microarrays as a method to monitor changes in mitochondria-related gene expression in patients with OXPHOS defects and/or mitochondrial cardiomyopathy.
J. Geurts1, B. van den Bosch1, L. Jacobs1, K. van der Kuijl1, S. van der Vlies1, I. de Coo2, H. Scholte2, J. Nijland2, T. Meitinger3, V. Tiranti4, M. Zeviani4, H. Smeets1. 1) Department of Genetics and Cell Biology, University of Maastricht, The Netherlands; 2) Department of Biochemistry and Child Neurology, Erasmus University Rotterdam, The Netherlands; 3) Department of Medical Genetics, Ludwig-Maximilians University, Munich, Germany; 4) Division of Biochemistry and Genetics, National Neurological Institute C. Besta, Milan, Italy. One of the most important functions of mitochondria is the production of ATP by the process of oxidative phosphorylation (OXPHOS). OXPHOS defects become clinically manifest if the ATP production gets below a tissue-specific threshold level. Based upon energy consumption, the organs most likely to be affected are the central nervous system, skeletal and cardiac muscle, pancreatic islets, liver and kidney. In the case of the heart, OXPHOS defects may lead to hypertrophic, dilated or hypertrophic dilated cardiomyopathy, often as part of specific syndromes, but also as the sole expression of the defect. The 16 kb mitochondrial DNA encodes only 13 of the proteins involved in OXPHOS. The vast majority of mitochondrial proteins are encoded by the nuclear genome. To characterize the changes in expression of mitochondrial DNA- and nuclear DNA-encoded genes involved in the molecular pathogenesis of mitochondrial disease and mitochondrial cardiomyopathy in particular, we have developed a human mitochondrial DNA microarray encompassing approximately 600 mitochondria-related genes. This mitochondrial microarray is ideally suited for expression profiling experiments using patient-derived fibroblast cell lines and (cardiac) muscle biopsies. At this moment, biological material is available for different groups of patients with (1) complex I and/or complex I and IV deficiencies, (2) different mitochondrial mutations e.g MELAS, MERRF, NARP, Pearson syndrome, CPEO, LHON, Leigh syndrome and (3) mitochondrial cardiomyopathy. Results from initial experiments will be presented.

MECP2 mutation analysis and genotype/phenotype correlation in 26 Dutch Rett Syndrome patients.
 J. Herbergs, E. Smeets, U. Moog, D. Tserpelis, H. Smeets. Genetics and Cell Biology, Maastricht University, Maastricht, Netherlands. Rett syndrome is an X linked neurodevelopmental disorder that almost exclusively affects girls. The prevalence of the disease is estimated at 1/10.000 to 1/15.000. After an apparently normal prenatal and postnatal development a developmental stagnation appears, followed by regression of mental and motor abilities. In our lab the MECP gene was screened in 26 patients with classical and atypical RETT syndrome. In 7 patients (27%) a pathological mutation was detected which was not found in one of the parents. In 4 out of 7 patients the R306C mutation was detected, which is a mutation in the transcription repression domain. Most of the patients were adult women and in those patients a possible relationship between clinical outcome and DNA mutation type was investigated, especially for the R306C mutation. No clear correlation was detected between the detected mutations and the severity of the phenotype. More predictive for the clinical outcome appear to be the severity of the motor impairment, the progress of the corresponding neurological signs, and the age at onset of stagnation.