2008 Barcelona - European Society of Human Genetics

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Clinical genetics -Paresthesia in lower extrimities ,tingling and burning sensations of the feet -Sensitivity of the lower extrimities to the cold weather -Gait problems -Foot drop -Pes cavus -Hair loss of the lower limbs -Tenar and hypotenar atrophy -Loss of deep tendon reflexes -Finger movement disorder in feet and hands -High levels of LDH -Chronic sensory-motor polyneuropathy in EMG and NCV . P01.229 mFN2 point mutations occur in 2% of charcot-marie-tooth families - An investigation of 400 Norwegian cmt families G. J. Braathen 1,2,3 , J. C. Sand 2 , A. Lobato 2 , H. Høyer 3 , M. B. Russell 1,2,4 ; 1 Faculty Division Akershus University Hospital, University of Oslo, Oslo, Norway, 2 Department of Neurology, Akershus University Hospital, Oslo, Norway, 3 Department of Laboratory Medicine, Section of Medical Genetics, Telemark Hospital, Skien, Norway, 4 Center of Research, Akershus University Hospital, Oslo, Norway. Background . Mutations in mitofusin 2 (MFN2) is the most common cause of Charcot-Marie-Tooth type 2 (CMT2) . Methods . Four-hundred Norwegian CMT families were screened for point mutations in the MFN2 gene . Results . Of the 400 families eight had mutations in the MFN2 gene . We identified four novel point mutations located in exon 14, 15 and 18 (2 families) . Clinically the known point mutations caused CMT2 . The novel point mutations caused CMT2, distal Hereditary Motor Neuronopathy (dHMN), intermediate CMT and CMT1 in each of the other families . Conclusions . Our mutations broaden the clinical picture that can be seen with mutations in the MFN2 gene . P01.230 De novo point mutations in Cx32, EGR2, MFN2, MPZ, PMP22 and simPLE. A population based survey of charcot-marie-tooth disorder G. J. Braathen 1,2,3 , J. C. Sand 2 , A. Lobato 2 , H. Høyer 3 , M. B. Russell 1,2,4 ; 1 Faculty Division Akershus University Hospital, University of Oslo, Oslo, Norway, 2 Department of Neurology, Akershus University Hospital, Oslo, Norway, 3 Department of Laboratory Medicine, Section of Medical Genetics, Telemark Hospital, Skien, Norway, 4 Center of Research, Akershus University Hospital, Oslo, Norway. Background. An analysis of de novo mutations in persons residing in eastern Akershus County with Charcot-Marie-Tooth (CMT) disease . Methods. The CMT patients were recruited from the Institute of Medical Genetics, University of Oslo and Departments of Neurology, Neurophysiology and Paediatric in eastern part of Akershus County, Norway . The CMT patients were examined by geneticist and neurologist GJB . The Cx32, EGR2, MFN2, MPZ, PMP22 and SIMPLE genes were analyzed . Paternity tests were performed . Results. We identified one de novo mutation in the MPZ gene and two de novo mutations in MFN2 . Conclusion. De novo point mutations are rare but less rare than previously anticipated . P01.231 Hereditary motor and sensory neuropathy type i in Russia T. B. Tiburkova1 , O. A. Schagina1 , E. L. Dadaly1 , V. P. Fedotov2 , A. V. Polyakov1 ; 1 2 Research centre for medical genetics, Moscow, Russian Federation, VOCDC genetic counseling, Voronezh, Russian Federation. Hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth (CMT) disease, is a large group of genetically heterogeneous hereditary disorders of distal nervous system . A group of 298 families with clinical and electrophysiological CMTI phenotype was investigated by us . Mutations analysis was performed for three genes: PMP22, GJB1 and P0 . First, the duplication in chromosome 17 (17p11 .2-p12) was investigated by PCR-AFLP analysis of STR . Mutations analysis for PMP22, GJB1 and P0 genes was performed by direct automatic sequence on Genetic Analyzer 3130 (Applied Biosystems) . Duplication of chromosome 17 was found in 189 families . This is 63,4% of all cases CMTI in Russian patients . GJB1 gene mutations caused of CMTI in 60 families, or 20,1% . Mutations in the P0 gene were found in 19 families, equaling 6,4% . Point mutation in the PMP22 gene were found in 2 families, that is 0,7% . In 28 families mutations were not found in any of these genes . Other genes, mutations of witch lead to this disorder, will be analyzed in our next investigations . P01.232 the ARG94GLN mutation in mFN2 gene can be the cause of axonal charcot-marie-tooth desease with optic atrophy L. De Jorge1 , I. Banchs1 , C. Casasnovas2 , J. Martinez-Matos2 , V. Volpini1 ; 1 2 IDIBELL, L’hospitalet de Llobregat, Spain, Hospital Universitari de Bellvitge- IDIBELL, L’hospitalet de Llobregat, Spain. Some mutations in the mitochondrial GTPase mitofusin 2 (MFN 2) (MIM608507) have been related to the axonal form of Charcot-Marie-Tooth (CMT) disease with optic atrophy . We report a family with severe CMT disease and dominant inheritance . Electrophysiological studies revealed a severe sensory and motor neuropathy with conserved nerve conduction velocities (NCV) . One of the family members presented a sub acute visual impairment . The ophtamological studies revealed optic atrophy (OpA) . Cranial Magnetic Resonance studies were normal . Molecular studies revealed the Arg94Gln mutation in exon 4 of MFN2 gene . This mutation had been previously reported, but only associated with “pure” axonal CMT and CMT with tremor . This is the first family with this mutation related to CMT with OpA reported, showing the importance of ophtalmological examinations in patients with axonal CMT caused by mutations in MFN2 gene . P01.233 molecular study of mFN2 gene in spanish population C. Casasnovas1 , I. Banchs2 , L. De Jorge2 , J. Martinez-Matos1 , V. Volpini2 ; 1Hospital Universitari de Bellvitge-IDIBELL, L’Hospitalet de Llobregat, Spain, 2IDIBELL, L’Hospitalet de Llobregat, Spain. The axonal dominant form Charcot-Marie-Tooh type 2A (CMT2 A2) (MIM#609260) is caused by mutations in mitochondrial fusion protein mitofusin 2 (MFN2) (MIM608507) . We report the molecular analysis of 101 families with suspected CMT 2 . The 19 exons of the MFN2 have been amplified by polymerase chain reaction with the previously decribed primers by Zuchner et al. (2004) Amplified DNA samples were directly sequenced by applying the BigDye V3 .1 (Applied Byoystems) and subjected to an capillary sequencer genetic analyzer . Duplication/ deletion and point mutations of PMP22, connexin 32 and MPZ were previously ruled out . The 83% of the families have been already studied . We have found 7 point mutations in 9 different families . The mutations were located in exons 4, 8, 9, 11 and 14 . The study of the promotor region reveals one change of one nucleotide and two families with a deletion of 15 nucleotides . On the other hand, we have found 18 different polymorphisms . One of the found point mutations was not previously described . The frequencies of changes in MFN2 found in our population are similar to previously described studies; these findings confirm the importance of this gene in the physiopathology of the axonal type of CMT 2 A2 in our population too . P01.234 Dating the mutation Leu239Phe of the GDAP gene in cmt Russian families A. V. Polyakov1 , O. A. Schagina1 , E. L. Dadali1 , V. P. Fedotov2 ; 1 2 Research Centre for Medical Genetics, Moscow, Russian Federation, VOCDC genetic counseling, Voronezh, Russian Federation. Mutations in the ganglioside - induced differentiation-associated protein 1 (GDAP1) gene are common a cause of the Charcot-Marie-Tooth (CMT4A) disease with autosomal recessive mode of inheritance . To date more than twenty mutations in the GDAP1 gene have been reported in patients suffering from the demyelinating, axonal or mixed form of Charcot-Marie-Tooth disease . In our study 110 patients from 72 unrelated families with CMT were screened for mutations by SSCP analysis with following direct sequencing of abnormal conformers . A c .715C>T at substitution codon 239 (Leu239Phe) was detected in nine affected subjects from six apparently unrelated families . Allelic
Clinical genetics frequency of this mutation averaged about 7% of all investigated chromosomes and 71% of chromosomes with mutations in GDAP1 gene . Analysis of the GDAP1 locus for markers D8S279-D8S1776-D8S286- D8S551-D8S548-D8S1805-D8S1705-D8S1757 demonstrated a common haplotype for markers D8S286; D8S551, D8S548, and D8S1805 on the chromosomes with c .715C>T mutation . The association of the mutation with a common haplotype suggested a common ancestor . The date of diffusion of the mutation has been calculated by linkage disequilibrium between disease locus and these polymorphic markers . The “age” of mutation c .715C>T in Russian was approximately 1000 years . P01.235 investigation of GDAP1 Gene in iranian cmt Patients A. Abbasi 1 , M. Sadeghizadeh 1 , O. Ariani 2 , H. Tonekaboni 3 , M. H. Sanati 4 , M. Houshmand 4 ; 1 Department of Biology, Tarbiat Modares University, Tehran, Islamic Republic of Iran, 2 Special Medical Center, Tehran, Islamic Republic of Iran, 3 Mofid Hospital, Shahid Beheshti University of Medical Siences, Tehran, Islamic Republic of Iran, 4 National Institute for Genetic Engineering and Biotechnology, Tehran, Islamic Republic of Iran. Charcot-Marie-Tooth disease (CMT) is the most frequently occurring inherited peripheral neuropathy, affecting 1 in 2,500 . The disease is characterized by distal muscle weakness and atrophy, predominantly involving the legs . CMT disease caused by mutations in the gangliosideinduced differentiation-associated protein 1 (GDAP1) gene is a severe autosomal recessive neuropathy originally reported in families with either demyelinating CMT4A neuropathy or axonal neuropathy with vocal cord paresis which maps to the CMT4A locus on chromosome 8q21 .1 . GDAP1 is a 358 amino acid protein which expressed in both the central and peripheral nervous system . 22 Iranian families with a diagnosis of CMT disease, either axonal or demyelinating, were available for genetic analysis of GDAP1 . Total genomic DNA was extracted from all family members using standard procedure . In all cases linkage analysis with different markers for the PMP22, MPZ, and GJB1 genes were used to exclude mentioned gens involving . In the 8 remaining families genotyping for the 3 microsatellite markers linked to the CMT4A locus was performed using different PCR protocols for each marker (D8S164, D8S286, and D8S551) . PCR products were run on a 12% non denaturing polyacrylamide gel and allele fragments were visualised by silver staining . Our results showed the usefulness of linkage studies in diagnosis of CMT patients.We could identify and confirm CMT4A in 4 patients with use of these markers . The data in this study could also be used in prenatal diagnosis and carrier detection . P01.236 control population distribution and in silico functional analysis of novel genetic variants in charcot-marie-tooth-Desease patients C. Concheiro Alvarez 1 , P. Blanco-Arias 1,2 , M. Zennaro 1 , M. Sobrido 3,2 , A. Carracedo 1,3,2 ; 1 Grupo de Medicina Xenómica-USC, Santiago de Compostela, Spain, 2 Centro de Investigación en Red de Enfermedades Raras (CIBERER), ISCIII, Santiago de Compostela, Spain, 3 Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain. When a variation (uncertain variant, UV) is found in a disease candidate gene, it is critical to establish whether this change is neutral or responsible for the observed disorder . As a result of sequence mutation screening of PMP22, MPZ, GDAP1, GJB1, EGR2, NEFL and LITAF in a group of 47 Spanish patients with a clinical diagnosis of Charcot-Marie-Tooth disease we found three non-synonymous, four synonymous and five intronic nucleotide substitutions not contained in dbSNP . In order to assess the possible pathogenic role of these 12 UVs, two approaches were used: 1) Screening of 296 Caucasian controls, 200 of which are Galician individuals without any neurological disorder . 2) In silico analysis to explore: • conservation across animal species (UCSC Genome Browser) • the impact of an amino acid substitution on the structure and function of a human protein (Polyphen) • a potential role as a exonic splicing enhancer (ESEfinder) We present this strategy as a valuable mean to select the UVs most likely to have a biological function warranting further study by experimental models . P01.237 Rapid diagnosis of CMTIA Deletion/duplication by real-time quantitative polymerase chain reaction S. Zare 1 , S. Akbari 1 , M. Karimipour 1,2 , M. Akbari 1,3 ; 1 Tehran Medical Genetics Labratory, Tehran, Islamic Republic of Iran, 2 Molecular Medicine Dept.Biotechnology Research Center, Pasteur Institute of Iran,Tehran, Tehran, Islamic Republic of Iran, 3 Department of Medical Genetics,Tarbiat Modares University, Tehran, Islamic Republic of Iran. Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary motor and sensory neuropathy (HMSN) . CMT has been classified into demyelinating (CMT1) and axonal (CMT2) forms. Around 70% of CMTIA cases are caused by a dominantly inherited 1 .5 Mb duplication at 17p11 .2-12 encompassing the peripheral Myelin protein 22 (PMP22) gene . In contrast, hereditary neuropathy with liability to pressure palsies (HNPP) is caused by reciprocal deletion of the same 1 .5 Mb region . In the present study, we developed a highly sensitive and specific quantitative gene dosage method for detecting the PMP22 duplication and deletion using Real time PCR .Real time quantitative PCR is a sensitive, specific and reproducible method for diagnosing PMP22 duplication and deletion . The method is fast, and requires no post-PCR handling . P01.238 molecular diagnosis of cmt1A and HNPP using multiplex Ligation-dependent Probe Amplification (MLPA): Comparison with the PFGE-southern blot analysis H. Choung; Samsung medical center, Seoul, Republic of Korea. Background: Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are the two most common peripheral neuropathies caused by a duplication or deletion of the 1 .5-Mb region containing PMP22 gene on 17p11 .2, respectively. Although pulsed-field gel electrophoresis (PFGE)-Southern blot (SB) analysis is considered as the reference method for molecular diagnosis of CMT1A/HNPP, several methods such as fluorescence insitu hybridization (FISH), short tandem repeat (STR) analysis, multiplex fluorescence PCR, and real-time PCR have been tried to avoid laborious and time-consuming PFGE-SB method . Methods: We tried to evaluate newly developed multiplex ligation-mediated probe amplification (MLPA) method for the detection of the specific 1.5-Mb duplication/deletion by prospectively testing 31 patients referred for differential diagnoses of CMT1A or HNPP . MLPA probemixes contain TEKT3, PMP22, FLJ25830, BX089850 and COX10 genes within the CMT1A/HNPP region . The results with MLPA method were compared with our current PFGE-SB method . Results: Thirteen out of 31 patients were diagnosed as having either duplication (n=3) or deletion (n=9) by PFGE-SB method and all the results were concordant with those by MLPA analysis . The turnaround time (TAT) by MLPA is estimated to be 4 days while TAT by PFGE-SB is approximately 17 days . Conclusions: MLPA is a sensitive and specific technique for the detection of duplication or deletion of PMP22 gene and its turnaround time is much shorter than the PFGE-Southern blotting . Therefore, MLPA could be a good alternative method replacing laborious PFGE-SB analysis . P01.239 subependymal heterotopia in the severe variant subtype of Adams-Oliver syndrome B. Dallapiccola1,2 , F. Brancati1 , R. Mingarelli1 ; 1 2 IRCCS CSS Mendel Institute, Rome, Italy, Department of Experimental Medicine and Pathology, La Sapienza Univerity, Rome, Italy. We recently ascertained a 7-year-old female born from non-consanguineous healthy parents with left talipes equinovarus, bilaterally absent/severely hypoplastic/malformed toes with absence of nails . Her psychomotor development was severely delayed and she suffered of seizures since the age of 3 years . At the time of examination (aged 13 years) she shows bilateral transverse reduction of digits, prominent veins over the trunk with rare café-au-lait spots and severe mental retardation with aggressive behaviour . Brain magnetic resonance scan shows bilateral nodular foci of tissue in the subependymal region lining the lateral ventricles . A focal area of irregular cortical surface is also present, suggesting cortical dysplasia . This girl fits the diagnosis of Adams-Oliver syndrome (AOS) and cor- 0
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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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EMPAG Plenary Lectures and perceive
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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 Damy, T.: P01.057 Damy
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Author Index Fernandez-Real, J.: P0
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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 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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