OP06. MOLECULAR GENETICS OF INHERITED PERIPHERAL NEUROPATHIES IN BULGARIA
A. JORDANOVA 1,4, Ivajlo Tournev 2,4, Velina Guergueltcheva 2,4, Ivan Litvinenko 3,4, Boriana Ishpekova 2,4, Veneta Bozinova 2,4 and Ivo Kremensky 1,4 1-Laboratory of Molecular Pathology, 2-Department of Neurology, 3-Department of Pediatrics, 4-Inherited Peripheral Neuropathies Research Group, Molecular Medicine Center, Medical University-Sofia, Bulgaria email: ajordanova@excite.com
*Corresponding Author:
page: 37

Abstract

Inherited disorders of the peripheral nervous system (IPN) frequently referred to as Charcot-Marie-Tooth (CMT) disease, affect 1 in 2500 individuals and thus represent one of the most common neuromuscular disorders. Clinically, IPN are characterized by progressive weakness and atrophy of the distal limb muscles, sensory abnormalities and absent deep tendon reflexes. IPN show extensive genetic heterogeneity with disease-causing mutations in more than 35 genes with a wide range of bio logical functions. Over the last eight years our research team has conducted extensive clinical, molecular genetic and phenotype-genotype correlation studies in Bulgarian patients and families with IPN. We have established a clinical register and DNA bank with more than 250 families. Our molecular genetic analyses have identified more than 10 novel mutations in 9 disease-causing genes. We have reported important genotype-phenotype correlation data for mutations in LITAF gene in CMT1C, NEFL gene in CMT1F, BSCL2 gene in Silver syndrome and MFN2 gene in CMT6. In an international collaboration the team was involved in mapping of genetic loci and contributed to the identification of three IPN genes (GARS, CTDP1, HSP22). We identified the Dominant Intermediate CMT type C (DI-CMTC) and provided guidelines for clinical diagnosis of this novel disease type. In a genome wide scan we mapped the disease locus to 1p34-p35 and subsequently identified pathogenic mutations in the YARS gene. Our research team is experi enced in extensive fieldwork and performs community-based carrier testing programs for private CMT mutations among the Roma population.




Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006