2008 Barcelona - European Society of Human Genetics

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Clinical genetics a clinical HHT database (CIROCO), build by the HHT reference centre in France and used by the French-Italian Network . Results: 351 HHT2 patients were included in 6 HHT centres in France . Eighty three patients were in group A and 268 patients were in group B . Epistaxis were present in both groups and occurred at a younger age in group B patients (Median = 16 vs 21 years old, p
Clinical genetics P01.298 Hyperphosphatasia with seizures, neurologic deficit and characteristic facial features: Five new cases of mabry syndrome M. D. Thompson 1 , M. M. Nezarati 2 , G. Gillessen-Kaesbach 3 , P. Meinecke 4 , R. Mendoza-Londono 5 , A. Munnich 6 , D. E. C. Cole 7 ; 1 Dept of Lab Medicine & Pathobiology, Univ. of Toronto, Toronto, ON, Canada, 2 Dept of Genetics, North York General Hospital, Toronto, ON, Canada, 3 Institut für Humangenetik, Universität zu Lübeck, Germany, Lübeck, Germany, 4 Abteilung Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Germany, 5 Dept of Pediatrics, Univ. of Toronto, Toronto, ON, Canada, 6 Hôpital Necker-Enfants Malades, Paris, France, 7 Dept of Lab Medicine and Pathobiology & Dept of Pediatrics, Univ. of Toronto, Toronto, ON, Canada. In 1970, Mabry et al . described multiple cases of persistent hyperphosphatasia associated with developmental delay and seizures in a single consanguineous family (OMIM#239300) . The nosology of this condition, however, is uncertain. We report five new cases that help delineate this disorder and provide further evidence favouring autosomal recessive inheritance, with sib recurrence in one instance (French non-consanguinous parents), and consanguinity (Lebanese parents) in another. Common to all five children is the Mabry triad of tonic-clonic seizures (usually beginning around one year of age), moderate to severe developmental delay, and persistently elevated alkaline phosphatase activity, without any indication of liver or metabolic bone disease . The degree of hyperphosphatasia varies considerably amongst cases (~1 .3 to 20 times the upper age-adjusted reference limit) . In addition, all five display a common facial dysmorphism, characterized by hypertelorism, broad nasal bridge, and tented mouth . The three singleton cases also have brachytelephalangy, but there is no evidence of skeletal anomalies in the two siblings. In the family first described by Mabry et al ., at least one affected was noted to have intracellular inclusions on biopsy of rectal mucosa but not liver . In three of our cases, inclusions have been observed in cultured cells, but the cells are not uniformly perturbed and characterization is still in progress . We are aware of additional cases in the literature which suggest a wider phenotypic spectrum, but they are consistent with an autosomal recessive condition characterized by hyperphosphatasia, seizures, and neurologic deficit - a disorder we call Mabry syndrome. P01.299 The yield of cascade screening and risk stratification for sudden cardiac death in hypertrophic cardiomyopathy mYBPc3 gene mutation carriers I. Christiaans 1 , E. Birnie 2 , I. M. van Langen 1 , G. J. Bonsel 2 , A. A. M. Wilde 3 ; 1 Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands, 2 Institute of Health Policy and Management, Erasmus Medical Centre, Rotterdam, The Netherlands, 3 Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands. Background: Hypertrophic cardiomyopathy (HCM) is a common autosomal dominant heart disease associated with heart failure and sudden cardiac death (SCD) . Disease penetrance and the risk of SCD in mutation carriers are unknown . We investigated the prevalence of a clinical diagnosis of HCM and the presence of risk factors for SCD at the first cardiological evaluation after presymptomatic genetic testing in asymptomatic carriers of a MYBPC3 gene mutation . Methods: 235 asymptomatic mutation carriers were cardiologically evaluated on the presence of HCM and risk factors for SCD . A comparison was made for different types of MYBPC3 gene mutations . Results: A clinical diagnosis of HCM could be made in 22 .6% of carriers . Disease penetrance at 65 years was incomplete for all types of MYBPC3 gene mutations . Women were affected less often (p=0 .003) and disease penetrance was lower (p=0 .024) . 22 asymptomatic carriers had ≥ two risk factors for SCD. In nine a clinical diagnosis of HCM could be made and they were therefore at high risk for SCD . Conclusion: A diagnosis of HCM can be made in almost one quarter of mutation carriers at first evaluation. Disease penetrance of HCM in MYBPC3 gene mutation carriers is incomplete at 65 years and differs between men and women . Risk factors were frequently present and 4% of carriers appeared to be at high risk for SCD . Our data justify presymptomatic genetic testing in HCM families with a pathogenic mutation and frequent cardiological evaluation on the presence of HCM and risk factors for SCD, even until advanced age . P01.300 Prevalence and phenotypic characteristics associated with myBPc3 mutations in patients with hypertrophic cardiomyopathy M. Hermida-Prieto, M. I. Rodríguez-García, M. Ortiz, R. Barriales, X. Fernandez, L. Cazón, I. Alvariño, A. Castro-Beiras, L. Monserrat; Instituto de Ciencias de la Salud, La Coruña, Spain. Background: Mutations in the beta-myosin heavy chain (MYH7) and myosin-binding protein C (MyBPC3) genes are the most frequent causes of hypertrophic cardiomyopathy (HCM) . MyBPC3 mutations have been associated with later diagnosis and less hypertrophy than MYH7 mutations . Our objectives were to compare the prevalence of mutations and the phenotypic characteristics associated with both genes in our patients with HCM . Methods: SSCP analysis and sequencing of fragments with abnormal MyBPC3 gene mobility were carried out in 130 consecutive index patients with HCM previously studied for the MHY7 gene (10% mutated) . The phenotypes of patients with and without mutations in both genes were compared . Results: We identified 16 MyBPC3 different mutations (8 of them novel) in 20 patients (15 .4%) . Age at diagnosis was similar in MyBPC3 vs . MYH7 patients (46 .2 vs . 46 .0, p ns) . More than 50% (11) of MyBPC3 mutated patients were diagnosed before 50 years of age, 35% (7) < 40 and 15% (3) < 30 . MyBPC3 patients had lower maximal thickness (25 .15 vs . 30 .45 mm, p=0 .045) than those with mutations in MYH7, but higher than non-mutated patients (22 .17 mm, p=0 .034) . Thirty percent of MyBPC3 patients had a maximal wall thickness ≥ 28 mm (2 of them with a thickness >40 mm were younger than 45 years old) . Conclusions: MyBPC3 mutations were present in 15 .4% of our families . Patients with MyBPC3 gene mutations were not older at diagnosis than patients with MYH7 mutations . MyBPC3 mutations may appear in young patients with severe hypertrophy . P01.301 Espectrum of mutations in myBPc3 gene in 130 families with hypertrofic cardiomyopathy M. I. Rodríguez-García, L. Monserrat, L. Cazón, M. Ortiz, I. Alvariño, R. Barriales, X. Fernández, A. Castro-Beiras, M. Hermida-Prieto; Instituto Universitario de Ciencias de la Salud, A Coruña, Spain. Hypertrophic cardiomyopathy (HCM), an autosomal-dominant disorder and the leading cause of sudden cardiac death in the young, is caused by mutations in genes encoding sarcomeric proteins . One of the most common genetic causes for HCM involves mutations is MYBPC3, the gene encoding cardiac myosin binding protein C . To determine the spectrum of mutations in MyBPC3 gene, 130 index cases were tested . A total of 16 different mutations, including 8 novel ones, were identified in 20 families (15.4%): 9 missense (D75N,A216T,V471E,R49 5W,R502Q[in 2 families], E542Q[in 3 families],T957S,R1022P[in 2 families],E1179K, 4 delections (Q327fs,K504del, K600fs,P955fs) and 3 intronic regions (IVS6+5G>A,IVS11-9G>A,IVS29+5G>A) . Ten of the mutations were identified on 7 of the 34 exons studied. Exons 16 and 17 could be “hot spots” due to the fact that 35% of the families presented a mutation in these exons . The average of age in the index cases with mutation was 50 years . Four carriers relatives weren’t diagnosed HCM but they were below mean age of diagnose, so it is possible that they haven’t yet developed the phenotype . Besides, there were 3 relatives without conclusive diagnostic of HCM that didn’t present mutation; this could suggest mutations in other genes . In conclusion, MyBPC3 is one of the genes most commonly affected by HCM-causing mutations which leads to a relatively mild phenotype with an adult age of onset . Furthermore, the existence of individuals with HCM but without mutation in MyBPC3, suggests the presence of additional disease-causing mutations in other genes . P01.302 Neuroblastoma (NB) with hypothalamic dysfunction (HD): report of a series of 14 cases J. Amiel, L. de Pontual, A. Nougayrede, A. Munnich, S. Lyonnet; INSERM U-781, Department of Genetics, Necker Hospital, Paris, France, Paris, France. Neuroblastoma (NB) is a frequent paediatric tumour for which recurrent somatic rearrangements are known . Congenital central hypoven- 0
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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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Concurrent Symposia ESHG CONCURRENT
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Concurrent Symposia s04.1 microRNA
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Concurrent Sessions ESHG CONCURRENT
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Concurrent Sessions receptor than t
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Concurrent Sessions reporting, and
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Concurrent Sessions c06.3 clinical
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Concurrent Sessions c07.5 VLDLR (ve
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Concurrent Sessions 317,503 single
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Concurrent Sessions MYCN , E2F3 and
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Concurrent Sessions limb or thoraci
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Concurrent Sessions APC, BRCA1 and
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Concurrent Sessions identified 215
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Clinical genetics ESHG POSTERS P01.
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Clinical genetics In Cyprus, the mu
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Clinical genetics gene . Most of th
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Clinical genetics are indeed more d
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Clinical genetics P01.037 Validatin
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Clinical genetics 17 PKU patients f
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Clinical genetics L185R missense mu
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Cytogenetics DISCUSSION: In this st
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Cytogenetics sented with ambiguous
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Cytogenetics normalities, cytogenet
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Cytogenetics P02.215 cytogenetic an
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Cytogenetics of spermatogenesis in
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Prenental diagnostics Genotype Infe
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Prenental diagnostics The Consortiu
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Cancer genetics forms . The typical
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Cancer genetics P04.012 A novel PtE
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Cancer genetics P04.021 comparative
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Cancer genetics P04.029 characteris
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Cancer genetics mutations detected
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Cancer genetics deleterious mutatio
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Cancer genetics Research Centre, Mo
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Cancer genetics P04.064 Dissection
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Cancer genetics P04.072 Acute promy
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Cancer genetics P04.081 Discordance
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Cancer genetics ity of the malignan
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Cancer genetics Method: mRNA level
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Cancer genetics preparations were o
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Cancer genetics ries.The identifica
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Cancer genetics P04.127 FGFR3 mutat
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Cancer genetics Our experience show
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Cancer genetics P04.162 HER-2/neu A
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Therapy for genetic disease P10.26
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EMPAG Plenary Lectures and perceive
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EMPAG Plenary Lectures 0 mutation i
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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 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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