FIFTH CROATIAN CONGRESS ON HUMAN GENETICS
June 20.-21. 2011. Bol, Island of Brač, Croatia
ORGANISER:Croatian Society of Human Genetics, Croatian Medical Association,
Secretariat: Ljubica Odak, M.D., Children's Hospital Zagreb, Clinical Hospital Sisters of Mercy, 16
Klaiceva st, 10 000 Zagreb, Croatia; Tel . 385-1 4600 103, Fax 385-1 4600 160, e-mail:
ljubica.odak@zg.t-com.hr , Web: www.humana-genetika.org/
Acc. No. (HRK):: 236000-1101214818, call number: 268-425, OIB 60192951611
MONDAY, June 20, Hall Hvar
09.15-09.30 Opening ceremony
CYTOGENETICS AND CLINICAL GENETICS:
Chairs: Ingeborg Barišić, Ružica Lasan-Trčić
09.30-10.00 Schinzel A: MINOR DYSMORPHIC SIGNS : THEIR VALUE FOR ASSESSMENT OF THE
ETIOLOGY OF CONGENITAL DEVELOPMENTAL DEFETCS
10.00-10.20 Ostojić S, Pereza N, Kapović M, Peterlin B: CURRENT VIEWS ON GENETIC AND
EPIGENETIC ETIOLOGY OF RECURRENT SPONTANEOUS ABORTION
10.20-10.30 Pereza N, Ostojić S, Volk M, Kapović M, Peterlin B: FUNCTIONAL SINGLE
NUCLEOTIDE POLYMORPHISMS IN PROMOTER REGIONS OF MATRIX METALLOPROTEINASE 1,-2,-3 AND -9 GENES ARE RISK FACTORS FOR RECURRENT SPONTANEOUS ABORTION
10.30-10.45 Dumić K, Krnić N, Škrabć V, Stipančić G, Kušec V, Štingl K, Barišić I: CLASSICAL
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY IN CROATIA
BETWEEN 1995 AND 2010
10.45-11.00 Roganović J, Barišić N, Jonjić N: ANGIOKERATOMA IN FABRY DISEASE:
DIAGNOSTIC BUT NOT TREATMENT EFFECTIVENESS MARKER
11.00-11.15 Šmigovec I, Đapić T, Kubat O, Antičević D: ORTHOPAEDIC TREATMENT OF
METABOLIC BONE DISEASES
11.15-11.30 DISCUSSION
11.30-12.00 COFEE BREAK
Chairs: Sanda Huljev-Frković, Leona Morožin-Pohovski
12.00-12.30 Zuffardi O: FROM GENOME-WIDE ARRAY TO NEXT GENERATION SEQUENCING
12.30-12.45 Morožin- Pohovski L, Barišić I: SCREENING OF PATIENTS WITH MENTAL
RETARDATION USING SUBTELOMERIC MLPA ASSAY
12.45-13.00 Božina N: PHARMACOGENOMICS AND ITS POTENTIAL APPLICATION IN
PERSONALIZED MEDICINE
13.00-13.15 Lasan Trčić R, Rajić L, Femenić R, Bilić E, Dubravčić K, Zadro R, Batinić D, Konja J,
Begović D: CLASSICAL AND MOLECULAR CYTOGENETIC ANALYSIS IN 324 PEDIATRIC PATIENTS
WITH ACUTE LYMPHOBLASTIC LEUKAEMIA
13.15-13.30 Odak L, Barišić I, Morožin-Pohovski L, Sansović I, Dumić K, Jakušić N, Klobučar A,
Grgurić J: DIAGNOSTIC ALGORITHM FOR CHILDREN WITH AUTISM
13.30-13.45 DISCUSSION
13.45-15.00 LUNCH BREAK
GENETIC EPIDEMIOLOGY, POPULATION GENETICS AND ANTROPOLOGY
Chairs: Nina Smolej Narančić, Marijana Peričić Salihović
15.00-15.15 Peričić Salihović M, Barešić A, Martinović Klarić I, Cukrov S, Barać Lauc L,
Janićijević B: TRACES OF MIGRATION FROM INDIA TO EUROPE AS WRITTEN IN THE
MITOCHONDRIAL DNA OF BAYASH ROMA
15.15-15.30 Barešić A, Peričić Salihović M: MENDELIAN DISORDERS OF THE BAYASH ROMA
FROM CROATIA
15.30-15.45 Levačić Cvok M, Musani V, Sušac I, Ozretić P, Sabol M, Car D, Eljuga D, Eljuga L,
Levanat S: BRCA1 AND BRCA2 GERMLINE MUTATIONS IN WOMEN IN CROATIA WITH
HEREDITARY PREDISPOSITION TO BREAST AND OVARIAN CANCER
15.45-16.00 Vraneković J, Babić Božović I, Grubić Z, Wagner J, Pavlinić D, Dahoun S, Čulić V,
Brajenović-Milić B: DOWN SYNDROME IN CROATIA: PARENTAL ORIGIN, RECOMBINATION,
AND MATERNAL AGE
16.00-16.15 DISCUSSION
16.15-16.45 COFFE BREAK
GENETIC COUNSELLING, PRENATAL DIAGNOSIS
Chairs: Vida Čulić, Bojana Brajenović- Milić
16.45-17.15 Schinzel A: TWINING AND CONGENITAL DEVELOPMENTAL DEFECTS
17.15-17.30 Čulić V, Mišković S, Zegarac Z, Mijaljica G, Kaštelan T, Pavelić J: POSITIVE
REPRODUCTIVE FAMILY HISTORY FOR SPONTANEOUS ABORTION - PREDICTOR FOR
RECURRENT ABORTIONS IN YOUNG COUPLES
17.30-17.45 Roje D, Kavelj M: THE FIRST FIVE YEARS EXPIRIENCE OF PRENATAL DIAGNOSIS IN
SPLIT, CROATIA: ANALYSIS AND EVALUATION OF THE RESULTS OBTAINED FROM AMNIOTIC
FLUID SAMPLES
17.45-18.00 Wagner J, Hercog R, Heffer M, Lauc G: NON-INVASIVE DETERMINATION OF FETAL
GENDER AND FETAL RHD STATUS FROM MATERNAL BLOOD
18.00-18.15 DISCUSSION
19.00-20.30 MEET THE PROFESSOR I, WINE AND CHEESE (CONFERENCE FLOOR)
TUESDAY, June 21, Hall Hvar
MOLECULAR AND BIOCHEMICAL BASIS OF MONOGENIC AND COMPLEX DISEASES
Chairs: Ivo Barić, Jadranka Sertić
09.00-09.15 Barić I, Sarnavka V, Ćuk M, Bilić K, Petković Ramadža D, Martinac I, Zibar K,
Muačević D, Merkler M, Reiner Ž, Luetić T, Pažanin L, Žarković K, Fumić K:
CHALLENGES IN DIAGNOSIS AND THERAPY OF INHERRITED DISORDERS OF MITOCHONDRIAL
ENERGY PRODUCTION
9.15-09.30 Borovečki F: GENOMIC APPROACHES TO DEVELOPMENT OF NEW DIAGNOSTIC
PARADIGMS IN NEURODEGENERATIVE DISEASES
09.30-09.45 Harjaček M, Lamot L, Frleta M, Gotovac K, Bingula F, Borovečki F: DIVERSE GENE
EXPRESSION IN PATIENTS WITH JUVENILE SPONDYLOARTROPATHY AND CLAVICULAR
CORTICAL HYPEROSTOSIS IS POSSIBLY RELATED TO AUTOINFLAMMATORY DISEASES
09.45-10.00 Sertić J, Božina T, Lovrić M, Jelaković B, Božina N, Merkler A, Ljubić H, Reiner Ž:
METABOLIC SYNDROME: EFFECTS OF PPAR , APOE, LPL, IL-6, ACE AND AT1R GENE VARIANTS
10.00-10.15 Ristić S, Starčević Čizmarević N, Seplić J, Živković M, Stanković A, Klupka-Šarić I,
Lovrećić L, Peterlin B: PAI AND TPA GENE POLYMORPHISMS IN MULTIPLE SCLEROSIS
10.15-10.30 Buretić- Tomljanović A: HUMAN GENOME ARCHITECTURE IN SCHIZOPHRENIA
AND OTHER NEUROPSYCHIATRIC DISORDERS
10.30-11.00 COFEE BREAK
11.00-11.15 Buretić-Tomljanović A, Vraneković J, Rubeša G, Jonovska S, Tomljanović D,
Šendula-Jengić V, Kapović M, Ristić S: HFE MUTATIONS AND TRANSFERRIN C1/C2
POLYMORPHISM AMONG CROATIAN PATIENTS WITH SCHIZOPHRENIA AND
SCHIZOAFFECTIVE DISORDER
11.15-11.30 Nadalin S, Jonovska S, Rubeša G, Dević S, Buretić-Tomljanović A: IMPACT OF
CPLA2 AND COX-2 GENE POLYMORPHISMS ON ATTENUATED NIACIN SKIN-FLUSH RESPONSE
IN PATIENTS WITH SCHIZOPHRENIA
11.30-11.45 Babić Božović I, Vraneković J, Starčević Čizmarević N, Mahulja-Stamenković V,
Prpić I, Brajenović-Milić B: MTHFR C677T AND A1298C POLYMORPHISMS AS A RISK FACTOR
FOR CONGENITAL HEART DEFECTS IN DOWN SYNDROME
11.45-12.00 Sansović I, Barišić I: IMPROVED DETECTION OF DELETIONS/DUPLICATIONS IN THE
DMD GENE USING THE MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION (MLPA)
METHOD
12.00-12.15 Bilić K, Zekušić M, Fumić K: THE IMPORTANCE OF OPTIMIZING METHODS FOR
MEASURING THE ACTIVITY OF ALPHA-ACID GLUCOSIDASE IN THE DIAGNOSIS OF POMPE
DISEASE
12.15-12.30 Toth O, Mrđenović S, Heffer M: MOUSE MODELS FOR GANGLIOSIDE DEFICIENCY
12.30-12.45 DISCUSSION
12.45-14.00 LUNCH BREAK
14.00-15.30 CANCER GENETICS
Chairs: Jasminka Pavelić, Sanja Mrsić
14.00-14.15 Matijević T, Pavelić J: THE DUAL ROLE OF TOLL-LIKE RECEPTOR 3 IN METASTATIC
CELL LINE
14.15-14.30 Slade N, Brdar B, Jelaković B, Moriya M, Medverec Z, Tomić K , Karanović S,
Vuković I, Wu L,Grollman A: TP53 MUTATIONAL SIGNATURE OF ARISTOLOCHIC ACID IN THE
UPPER URINARY TRACT CARCINOMAS
14.30-14.45 Nikuševa Martić T, Pećina Šlaus N, Zeljko M, Tomas D: CHANGE OF THE NF2 GENE
IN NEURINOMAS
14.45-15.00 Rako I, Čaban D, Jakić-Razumović J, Pleština S, Sertić J: THE ROLE OF
DETERMINING THE STATUS OF KRAS GENE IN COLORECTAL CANCER
15.00-15.15 Dević S, Flego V, Ristić S, Kapović M, Radojčić Badovinac A: ACE I/D
POLYMORPHISM IN LUNG MALIGNANCY
15.15-15.30 DISCUSSION
15.30-16.00 COFFE BREAK
CROATIAN SOCIETY OF HUMAN GENETICS AND CROATIAN SOCIETY OF RARE DISEASE –
16.00-17.30 ROUND TABLE- Ivo Barić, Ingeborg Barišić, Ksenija Fumić, Miljenko Kapović, Saša
Ostojić, Jelena Roganović, Ana Stavljenić-Rukavina: RARE DISEASES IN CROATIA –
ACHIEVEMENTS AND PROSPECTS
17.30-17.45 ACKNOWLEDGEMENT TO YOUNG HUMAN GENETICIST FOR ORAL /POSTER
PRESENTATION FROM PROFFESSORS ZERGOLLERN-ČUPAK FOUNDATION
20.30 WELCOME RECEPTION, BORAK BEACH RESTAURANT
WEDNESDAY, June 22
SOCIAL PROGRAMME
HALF-DAY EXCURSION TI ISLAND HVAR
ALTERNATIVELY: IF THE WEATHER WILL NOT SUITABLE FOR SAILING, TOUR ON ISLAND
BRACH WILL BE ORGANIZED
POSTERS
CYTOGENETICS AND CLINICAL GENETICS:
Kaštelan T, Čulić V, Lozić B: CHROMOSOME ABERRATIONS IN ACUTE VIRAL INFECTION
Mišković S, Lasan R T, Lozić B, Kaštelan T, Mijaljica G, Čulić V:
FAMILIAL TRANSLOCATION WITHOUT PRENATAL DIAGNOSIS
Lozić B, Čulić V, Lasan R, Kaštelan T, Kuzmanić-Šamija R, Zemunik T: PURE TRISOMY 10P
RESULTING FROM AN EXTRA STABLE TELOCENTRIC CHROMOSOME
Wagner J, Stipoljev F, Puseljić S, Škrlec I, Heffer M, Liehr T: CHARACTERIZATION OF A FAMILIAL
CASE WITH COMPLEX CHROMOSOME REARRANGEMENT INVOLVING CHROMOSOMES 1, 10,
11, 13 AND 18
Odak L, Barišić I, Morožin-Pohovski L, Riegel M, Schinzel A: A NOVEL DE NOVO DIR DUP (16)
(Q12.1-Q21) IN A GIRL WITH BEHAVIORAL DISORDER, MILD COGNITIVE IMPAIRMENT,
SPEECH DELAY, AND DYSMORPHIC FEATURES: CASE REPORT AND REVIEW OF THE
LITERATURE
Omerza L, Huljev-Frković S, Sajko T, Lasan R, Crkvenac-Gornik K, Tonković-Ðurišević I, Letica L,
Begović D: CLINICAL REPORT: NEWBORN WITH PARTIAL TRISOMY 21Q21 AND PARTIAL
MONOSOMY 5P15.3 DUE TO BALANCED RECIPROCAL TRANSLOCATION 5;21 IN THE FATHER
Pereza N, Severinski S, Ostojić S, Volk M, Maver A, Baraba K, Kapović M, Peterlin B: A RARE
CASE OF 8Q23.3-Q24.13 MICRODELETION WITH LANGER-GIEDION SYNDROME PHENOTYPE
WITHOUT TRPS1 GENE DELETION
Brbora I, Gabrić Pandurić D, Gabrić K, Žeko I, Mišković S, Čulić V: ECTODERMAL DYSPLASIAFAMILY REPORT
Alsayed Z S, Culic V: JOUBERT SYNDROM AN INTERESTING COLLABORATION
GENETIC EPIDEMIOLOGY, POPULATION GENETICS AND ANTROPOLOGY
Bišof V, Peričić Salihović M, Smolej Narančić N, Škarić-Jurić, Janićijević B: WORLDWIDE SPREAD
OF THE TP53 GENE POLYMORPHISMS ARG72PRO AND INTRON 3 (+16BP)
Tomas Ž, Zajc M, Škarić-Jurić T, Rudan I, Rudan P, Smolej Narančić N: THE EVIDENCE OF
PROINFLAMMATORY AND PROTHROMBOTIC ROLE OF LEPTIN RECEPTOR GENE
Odak L, Barišić I, Loane M, Calzolari E, Garne E,Wellsey D, Dolk H: BECKWITH WIEDEMANN
SYNDROME: CLINICAL AND EPIDEMIOLOGICAL STUDY OF A LARGE SERIES OF PATIENTS IN
EUROPE
Ulovec Z, Jukić J, Skrinjaric T, Gorseta K: MINOR PHYSICAL ANOMALIES IN CHILDREN WITH
MENTAL RETARDATION, HEARING AND VISION IMPAIRMENT
GENETIC COUNSELLING, PRENATAL DIAGNOSIS
Kaštelan T, Čulić V, Lozić B, Milanović D: PRENATAL DIAGNOSIS IN SPLIT
Pavić T Š, Čulić V, Mišković S, Lozić B, Mijaljica G, Dragišić-Ivulić S: LIFE EXPECTANCY OF
CHILDREN WITH CHROMOSOMAL ANOMALIES
Tonković Ðurišević I, Crkvenac Gornik K, Letica L, Lasan R, Elveđi Gašparović V, Malčić I, Duić Ž,
Begović D: THREE CASES OF TRIPLOIDY IN SECOND TRIMESTER OF PREGNANCY
MOLECULAR AND BIOCHEMICAL BASIS OF MONOGENIC AND COMPLEX DISEASES
Juričić L, Merkler A, Ljubić H, Cvitković L, Barišić N, Sertić J: MOLECULAR DIAGNOSTICS OF
SPINAL MUSCULAR ATROPHY (SMA) AND SMA CARRIERS BY DETERMINING THE NUMBER OF
SMN1 AND SMN2 GENE COPIES
Juričić L, Merkler A, Ljubić H, Cvitković L, Čulić V, Barišić N, Relja M, Sertić J:
MOLECULAR DIAGNOSTICS OF SPINOCEREBELLAR ATAXIA TYPES 1, 2, 3, 6, 7
Ljubić H, Merkler A, Juričić L, Božina T, Čaban D, Acman A, Sertić J, Kalauz M: ATP7B GENE
MUTATIONS ASSOCIATED WITH INCIDENCE OF WILSON DISEASE IN CROATIAN POPULATION
Dumic K, Barisic I, Garg A: A PATIENT WITH ATYPICAL PROGERIA SYNDROME DUE TO
HETEROZYGOUS E159K MUTATION IN LMNA GENE
Crkvenac Gornik K, Grubić Z, Štingl K, Tonković Ðurišević I, Begović D: MICROSATELLITE LOCI
ON CHROMOSOME X AND THEIR APPLICATION FOR THE RAPID PRENATAL DETECTION OF
CHROMOSOME X NUMERIC ABNORMALITIES
Starčević Čizmarević N, Gašparović I, Peterlin B, Sepčić J, Rudolf G, Kapović M, Lavtar P,
Smiljana R: CTLA-4 +49 A/G GENE POLYMORPHISM IN CROATIAN AND SLOVENIAN MULTIPLE
SCLEROSIS PATIENTS
Lovrić M, Božina N, Hajnšek S, Sporiš D, Lalić Z, Granić P: EFFECTS OF ABCB1 DRUG
TRANSPORTER GENOTYPES ON ANTIEPILEPTIC DRUG DISPOSITION
CANCER GENETICS
Kurtović-Kozarić A, Kozarić M, Bilalović N: THE EFFICACY OF INTERPHASE FISH DIAGNOSTICS IN
PEDIATRIC ACUTE LEUKEMIAS OVER THE PERIOD OF TWO YEARS AT THE CLINICAL CENTER OF
THE UNIVERSITY OF SARAJEVO
Sola I, Lokosek V, Majic Z, Serman L PROLIFERATION OF DECIDUAL CELLS IN RAT EMBRYOS IS
GREATER BEFORE THAN AFTER GASTRULATION