The latest news from Athens, Greece



Institution :Institute of Child Health, Department of Genetics,"Aghia Sophia" Children's Hospital,GR-11527 Athens Greece

Director: Michael B. Petersen, MD, PhD, DMSc
Phone : +3010 7753030 Fax : +3010 7700111
E-mail: inchildh@otenet.gr
web-address: http://www.ich.gr


Background :



     Greece has a high carrier frequency of 3.5% of the GJB2 35delG mutation. In a collaboration with the major referral centers for childhood deafness in Greece, we have determined that the GJB2 gene is responsible for about one third of prelingual, neurosensory, nonsyndromic deafness in our country. As deaf individuals often choose deaf partners and due to the high carrier frequency in the normal population, a pseudodominant inheritance pattern can be seen in GJB2 deafness. We have discovered a big need for genetic counseling, carrier testing and prenatal diagnosis of prelingual deafness in our country. The Institute of Child Health is the only public institution in Greece performing genetic counseling, clinical diagnosis of syndromic deafness, and molecular genetic diagnosis of nonsyndromic deafness.

  • Clinical diagnosis / genetic counseling

  • Cytogeneics laboratory

  • Molecular genetics laboratory performing molecular diagnosis of nonsyndromic deafness, including GJB2 (connexin 26) mutations and mutations of the mitochondrial DNA associated with nonsyndromic deafness (A1555G in the 12S rRNA gene, A7445G and 7472insC in the tRNA Ser(UCN) gene, and A3243G in the tRNA Leu(UUR) gene).



Recent Publications:

  • Antoniadi T, Rabionet R, Kroupis C, Aperis GA, Economides J, Petmezakis J, Economou-Petersen E, Estivill X, Petersen MB. High prevalence in the Greek population of the 35delG mutation in the connexin 26 gene causing prelingual deafness. Clin Genet 1999;55:381-382.

  • Pampanos A, Neou P, Iliades T, Apostolopoulos N, Voyiatzis N, Grigoriadou M, Katsichti L, Skevas A, Petersen MB. Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation. Clin Genet 2000;57:232-234.

  • Antoniadi T, Gronskov K, Sand A, Pampanos A, Brondum-Nielsen K, Petersen MB. Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Hum Mutat 2000;16:7-12.

  • Antoniadi T, Pampanos A, Petersen MB. Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation. Pren Diagn 2001;21:10-13.




 



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