2008 Barcelona - European Society of Human Genetics

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Clinical genetics P01.156 FGFR mutations in turkish patients with craniosynostosis syndrome by DHPLc S. Pehlivanoglu1 , E. Mihci2 , H. Kayserili3 , M. O. Caliskan1 , S. Tacoy2 , G. Luleci1 , O. M. Alper1 ; 1Akdeniz University, Faculty of Medicine, Department of Medical Biology and Genetics, Antalya, Turkey, 2Department of Clinical Genetics, Antalya, Turkey, 3Istanbul University, Institute of Children’s Health, Department of Medical Genetics, Istanbul, Turkey. Fibroblast growth factor receptor 2 (FGFR2) gene mutations have been associated with the craniosynostotic conditions of Apert, Crouzon, Pfeiffer, Jackson-Weiss, Saethre-Chotzen, Beare-Stevenson Cutis Gyrata, and Antley-Bixler syndromes in various ethnic groups . Thirty seven unrelated Turkish patients with Apert syndrome (n=8), Crouzon syndrome (n=10), Pfeiffer syndrome (n=3), Saethre/Chotzen syndrome (n=3), and unclassified craniosynostosis (n=13) were screened for mutations in exons IIIa and IIIc of the FGFR2 gene by polymerase chain reaction, DHPLC and direct sequencing . We established the optimal denaturing High Performance Liquid Chromatography (DHPLC) parameters of each exons using the WAVE Maker Software version 1 .6 .2 . Each anomalous elution peak was then subjected to direct sequencing . Our DHPLC based protocol enabled us to identify the causative mutations in most of the patients, as following, seven of 8 patients with Apert syndrome (S252W,P253R) and six out of 10 patients with Crouzon syndrome (C278F,Q289P,W290R,C342Y), two out of 3 patients with Pfeiffer syndrome (P253R,C342R) . We did not detect any FGFR2 gene mutations in patients with Saethre-Chotzen syndrome or unclassified craniosynostosis patients. The DHPLC based protocol can be used for an efficient, cost effective and reliable mutational analysis of the FGFR2 gene . In addition, the present study provides a preliminary data in Turkish population, elucidation of the FGFR2 mutations in patients with clinical features suggestive of especially Apert, Crouzon and Pfeiffer syndrome offers a significant benefit to those families in terms of genetic counseling and prenatal diagnosis . P01.157 Prenatal analysis of dwarfism due to mutations in FGFR3 gene in spanish population M. Fenollar-Cortés 1 , M. Martínez-García 2,3 , M. Rodríguez de Alba 2,3 , D. Diego-Álvarez 2,3 , I. Lorda-Sánchez 2,3 , R. Cardero 2,3 , C. Ramos 2,3 , C. Ayuso 2,3 , M. Trujillo-Tiebas 2,3 ; 1 Hospital Clínico San Carlos, Madrid, Spain, 2 Fundación Jiménez Díaz, Madrid, Spain, 3 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. INTRODUCTION: Thanatophoric dysplasia (TD), achondroplasia (ACH) and hypochondroplasia (HCH) are skeletal dysplasias with an autosomal dominant pattern . We present the results of FJD skeletal dysplasias cases over eight years in prenatal and miscarriage samples studying mutations in the fibroblast growth factor receptor 3 (FGFR3) gene . MATERIAL AND METHODS: Fetal DNA was isolated from amniotic fluids (AF, 15-35 weeks of gestation), villi chorionic samples (CVS, 9-20 weeks) and tissue of abortion (TA, 15-35 weeks) . All samples were karyotyped . 5 different PCRs that comprises the more relevant condons (248, 249, 250, 253, 370, 371, 373, 375, 380, 538, 540, 650 and 807) were analysed by automated sequencing analyser . 30 prenatal cases were referred to FJD Laboratory: 18 CVS (60%) and 12 AF (40%) . RESULTS: Of the 18 CVS only 2 were positives, and in both cases the pregnant women were also affected of ACH . Of the 12 AF, we obtained 10 negative cases and 2 TD-I+ . Main referral (75%) was short limbs and other skeletal anomaly in the present pregnancy . We received 19 TA but only 16 studies because of DNA degradated, with the following results: 1 TD-I; 3 TD-II, 2 aneuploides . CONCLUSIONS: Molecular analysis of CVS in first trimester is useful when one of the parents is affected due to the 50% of risk . Only severe forms (TD) are detected by ultrasound in second trimester . For miscarriages, is obligatory the fetal karyotype fetal and molecular analysis by sequencing of FGFR3 gene . P01.158 Postnatal analysis of dwarfism due to mutations in FGFR3 gene in spanish population M. Trujillo-Tiebas 1,2 , M. Fenollar-Cortés 3 , M. Martínez-García 1,2 , C. Ramos 1,2 , J. Gallego-Merlo 1,2 , F. Infantes 1,2 , M. Rodríguez de Alba 1,2 , I. Lorda-Sánchez 1,2 , C. Ayuso 1,2 ; 1 Fundación Jiménez Díaz, Madrid, Spain, 2 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain, 3 Hospital Clínico San Carlos, Madrid, Spain. Introduction: Achondroplasia (ACH), the most common form of human dwarfism (1/10.000-30.000 births), and hypochondroplasia (HCH), a less severe and less frequent condition (1/50 .000 births), are inherited in an autosomal dominant manner as other lethal skeletal dysplasias (Thanatophoric dysplasia (TD) type I and II) . Mutations in the gene of fibroblast growth factor receptor 3 (FGFR3) are known responsible for them . We present the results about this disorders gather in eight years in our hospital from different geographical origins of Spain . Material and Methos: Patients were all postnatal (neonatal, child and adult people) with a wide range of age . DNA was isolated from blood leucocytes or mouth epithelial cells . 5 different PCRs that comprise the more relevant codons (248, 249, 250, 370, 371, 373, 375, 380, 540, 650 and 807) were analysed by automated sequencing analyser . We also detected the most frequent mutation R380G in ACH phenotype by SNAPSHOT technology . Results: From 77 cases, we obtained 26 ACH+ (33 .8%); 7 HCH+ (9 .1%) and 1 TD type I+ (1 .3%) . We found 5 cases with a polymorphic allele (F384L) and 3 cases with a polymorphic allele (G549G) very close to the splice site . Cconclusions: Our strategy for studying all samples is always the same independently the clinical suspicion . Sequencing FGFR3 is a good practice to detect known and new mutations in individuals affected with different skeletetal dysplasias, especially when few clinical findings are added to the application. P01.159 Functional analysis of osteoporosis pseudoglioma associated missense mutations in LRP A. Saarinen 1,2 , U. Lahtinen 1,3 , A. Lehesjoki 1,3 , O. Mäkitie 1,4 ; 1 Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland, 2 Department of Medical Genetics, University of Helsinki, Helsinki, Finland, 3 Neuroscience Center, University of Helsinki, Helsinki, Finland, 4 Metabolic Bone Clinic, Hospital for Children and Adolescents, Helsinki University Hospital, Helsinki, Finland. Background: Mutations in the low density lipoprotein receptor-related protein 5 gene (LRP5) have been associated with high and low bone mass . While homozygous LRP5 mutations cause osteoporosis-pseudoglioma syndrome (OPPG), characterized by severe osteoporosis and blindness, heterozygous mutations have been associated with reduced bone mass . LRP5 functions as a plasma membrane receptor in the Wnt signaling pathway . We previously described LRP5 mutations in patients with OPPG and/or severe osteoporosis . In this study we further analyzed the role of these mutations in Wnt signal transduction and cellular localization . methods: Mutations were introduced to full length human LRP5-pcD- NA3 .1 expression vector using site-directed mutagenesis . Wnt signal transduction assays were performed in 293HEK cells using a previously published Wnt-induced canonical signaling assay (Ai etal . 2005) . Localization studies were performed in COS-1 cells using immunofluorescence staining . Results: Three different missense mutations were identified and selected for further studies . Wnt signaling assays indicated that one of the mutations, R570W in exon 8, completely disrupted Wnt signal transduction . The second mutation, R1036Q in exon 14, resulted in partial disruption of Wnt signaling while the third mutation, R925C in exon 12, did not show any alteration in the signaling assays . Localization studies revealed that the R1036Q and R925C mutant proteins were able to reach plasma membrane where as the R570W could not be detected, suggesting that it might be post-translationally degraded . conclusions: We were able to show that some LRP5 mutations directly impair Wnt signal transduction and cellular transportation while other pathogenetic mechanisms are associated with some mutations .
Clinical genetics P01.160 characterization of the Exostosin-1 (EXt1) promoter I. Jennes1 , W. Wuyts1,2 ; 1 2 University of Antwerp, Antwerp, Belgium, University Hospital of Antwerp, Antwerp, Belgium. Introduction Multiple osteochondromas (MO) is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped protuberances . MO is genetically heterogeneous and is associated with a mutation in the EXT1 or EXT2 tumour suppressor genes . Both genes are ubiquitously expressed and encode proteins that function as glycosyltransferases in the biosynthesis of heparan sulphate . At present, very little is known about the transcriptional regulation of the EXT genes . To elucidate transcriptional regulation of EXT1, we isolated and characterized the EXT1 promoter . Methods and results Theoretical analysis of the 10 kb upstream of the EXT1 start codon was performed with promoter prediction programs TSSG, TSSW, FPROM, BDGP, Promoter 2 .0 Prediction Server and Web Promoter Scan . This showed presence of a CpG island containing CG and CAAT boxes but no TATA box which, characteristic for a housekeeping gene . Two potential functional promoter regions were identified located respectively ~2 .650 bp and ~900 bp upstream of the start codon . Overlapping PCR fragments of the 10 kb putative EXT1 promoter region were generated and cloned in the pGL4 .72 Luciferase Reporter Vector . Promoter activity was determined by luciferase assays after transfection in Human Embryonic Kidney (HEK) cells . This situated the actual core promoter within the fragment containing the predicted sequence ~900 bp upstream of the start codon. Further fine mapping of the core promoter and potential regulatory sites was achieved by generating additional subclones, which were subsequently analyzed for promoter activity and analyzed for protein binding capacities . This allowed identification of EXT1 promoter binding proteins. P01.161 mutation screening for autosomal recessive malignant osteopetrosis S. Akbaroghli 1 , T. Majidizadeh 1 , M. Dehghan Manshadi 1 , M. Rostami 1 , M. Nateghi 1 , M. Sanati 2 , M. Houshamnd 2,1 ; 1 Special Medical Center, Tehran, Islamic Republic of Iran, 2 National Institute of Genetic Engineering & Biotechnology, Tehran, Islamic Republic of Iran. Osteopetrosis is a congenital disorder characterized by defective or absent osteoclasts, the cells that break down bone . In healthy bone, a balance is achieved between the production of bone by osteoblasts, and the break down of bone by osteoclasts . In osteopetrosis, osteoclasts don’t function normally, and the production of bone by osteoblasts leads to bones that are abnormally dense and brittle . Osteopetrosis may result from conditions which interfere with the production of osteoclasts and their ability to remove bone . Several forms of osteopetrosis exist . The most common form is autosomal dominant . The most severe form of osteopetrosis is termed infantile osteopetrosis, as affected individuals usually have difficulties soon after birth, inherited in an autosomal recessive pattern . The disease is very rare, with about 1/300,000 children having severe osteopetrosis . The candidate genes for Osteopetrosis are TCIRG1, CLCN7 genes . The spectrum of CLCN7-related osteopetrosis includes infantile malignant CLCN7-related autosomal recessive osteopetrosis, intermediate autosomal and autosomal dominant osteopetrosis type II . Mutations of the TCIRG1 gene are the most frequent cause of AR osteopetrosis . TCIRG1 encoding the a3 subunit of the vacuolar proton pump is located on chromosome 11q13 consists of 20 exons . In present study DNA was received from a consanguineous couple who had 1 affected child from who no sample was available and they were referred us for screening the problem if any, in the fetus . For each sample we performed genetic analysis of hot spot axons of TCIRG1 by direct sequence analysis . We reported a new mutation in TCIRG1 gene . P01.162 A novel homozygous cOLL11A2 deletion causes a c-terminal protein truncation without mRNA decay in a turkish patient O. Z. Uyguner1 , H. Kayserili1 , G. Guven1 , M. U. Emiroglu1 , N. Baserer1 , B. Wollnik2 ; 1 2 Istanbul University, Istanbul, Turkey, University of Cologne, Cologne, Germany. Otospondylomegaepiphyseal dysplasia (OSMED, OMIM 215150) is a rare autosomal recessive disorder of bone growth and development that results in disproportionate shortness of the limbs with abnormally large knees and elbows, severe hearing loss, and distinctive facial features presenting mid-face hypoplasia, depressed nasal bridge with anteverted nares . Cleft palate and micrognathia are also the common findings. The phenotype is very similar to non-ophthalmic Stickler or Stickler Type III (OMIM 184840), which displays more subtle signs . Recessive mutations on collagen peptide coding gene, COL11A2, are responsible for OSMED while dominant mutations are associated with Stickler Type III . Furthermore, mutations in the COL11A2 gene have been also found in patients with isolated cleft palate, Robin sequences, micrognathia, and non-ophthalmic Stickler syndrome . In this study, two cousins with OSMED were clinically assessed and mutations testing on patient’s cDNA identified the novel homozygous c.2763delT in exon 38 of the COL11A2 gene . The deletion which causes a frame shift after position 425 and a premature stop after additional 62 amino acids (p.P425PfsX62) was confirmed on genomic level in both patients and was not found in 200 ethnically matched control chromosomes . P01.163 mutations of the sequestosome 1 gene associated with Paget‘s disease in patients from salamanca, spain E. Corral Moro 1 , L. Corral Gudino 2 , J. García Aparicio 2 , S. Ciria Abad 1 , N. Alonso López 1 , J. del Pino Montes 2 , R. González Sarmiento 1 ; 1 Unidad de Medicina Molecular-Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain, 2 Servicio de Reumatología, Hospital Universitario de Salamanca, Salamanca, Spain. Paget´s disease of bone (PDB) is a common condition characterized by focal abnormalities of increased bone turnover . Mutations in the sequestosome 1/p62 gene (SQSTM1) are associated with Paget linked to the 5q35 . Mutations described to date cluster within the C- terminal ubiquitin-associated (UBA) domain of p62 and patients with truncating mutations of p62 in or close to the UBA domain generally suffer more severe disease than those with missense mutations . We investigated a cohort of 20 familial PDB patients for sequestosome mutations . We identificated three mutations within exon 8: P392L, M404T, previously reported by other groups, and A426V ,a novel missense mutation . All three of these mutations affect the ubiquitin-associated (UBA) domain of the protein which is involved in the ubiquitin binding . Moreover, analysis of exon 6 detected a G to C substitution at position +822, resulting in a glutamic acid to aspartic acid substitution at codon 426 . This mutation affects the PEST sequence, important for the span life to the protein . Actually, more studies are under way to examine the effect of his mutation . P01.164 mutations, duplications and deletions, upstream, downstream and overlapping the sHOX gene in Leri-Weill dyschondrosteosis or short stature patients of the Balearic islands J. Rosell1 , J. Ferragut2 , M. Caimari2 , N. Govea1 , M. Bernues1 , A. Perez-Granero1 , D. Heine-Suñer1 ; 1 2 Genetics Hospital Universitari Son Dureta, Palma de Mallorca, Spain, Paediatrics Hospital Universitari Son Dureta, Palma de Mallorca, Spain. The SHOX gene is located on the pseudoautosomal regions (PAR1) of the X and Y chromosomes . Mutations and deletions of SHOX have been shown to be associated with Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) . Recently, it has been shown that deletions downstream within in the PAR1 region and that do not include the SHOX gene can be also associated with LWD . We have studied a total of 120 ISS and LWD patients and their families from the Balearic islands population . The presence of deletions has been determined using microsatellites that are located upstream and/or MLPA (SALSA 18C) which can detect downstream deletions . Mutations have been
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Volume 16 Supplement 2 May 2008 www
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Committees - Board - Organisation E
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Plenary Lectures ESHG PLENARY LECTU
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Plenary Lectures 6 Medical Genetics
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Cancer genetics forms . The typical
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Cancer genetics P04.012 A novel PtE
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Author Index Al-Owain, M.: P06.160
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Author Index 0 Baka, M.: P04.082 Ba
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Author Index Berwouts, S.: P09.20,
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Author Index P07.117 Buil, A.: P06.
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Author Index Cho, J.: P04.192, P08.
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Author Index Damy, T.: P01.057 Damy
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Author Index 0 Dror, A.: P05.074 Dr
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Author Index Fernandez-Real, J.: P0
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Author Index P06.310 Gavriliuc, A.
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Author Index Grinberg, Y. I.: P01.0
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Author Index Hood, L.: PL4.1 Hoogeb
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Author Index 0 P02.240, P09.63 Kala
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Author Index Kongstad, O.: P09.39 K
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Author Index Lee, C.: C13.3 Lee, D.
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Author Index Mahjoubi, F.: P02.045,
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Author Index P04.196 Meindl, A.: c0
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Author Index 00 Mottaghi, L.: P01.0
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Author Index 0 Oh, T. Y.: P01.084 O
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Author Index 0 Peñaloza, R.: P05.2
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Author Index 0 Proverbio, M.: P05.0
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Author Index 0 Rogers, M.: EP14.18
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Author Index 0 Scarcella, M.: P05.0
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Author Index P06.179 Sobrino, B.: P
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Author Index Taschner, P. E. M.: P0
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Author Index Urreizti, R.: P01.050,
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Author Index Voegele, C.: P04.121 V
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Author Index 0 P04.095, P04.106 Zem
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Keyword Index AMACR gene: P04.182 a
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Keyword Index cardiac: S04.1 Cardio
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Keyword Index Crohn: P07.022 Crohn
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Keyword Index evolution: P02.112, P
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Keyword Index 0 haemoglobinopathies
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Keyword Index KCNJ11: P05.026 KCNQ1
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Keyword Index MLH1: P04.010, P04.02
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Keyword Index osteochondrodysplasia
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Keyword Index PXE-like syndrome: P0
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Keyword Index 0 sperm: P02.205 sper
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Keyword Index venous thrombosis: P0
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2008 Barcelona - European Society of Human Genetics

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