title: Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.
abstract: OBJECTIVE
  We report on genetic analysis of a complex condition in a Serbian family of four siblings, wherein two had progressive myoclonic epilepsy (PME) and congenital deafness (CD), one had isolated congenital deafness (ICD), and one was healthy.
  
  
  RESULTS
  Molecular diagnosis performed by Southern blotting confirmed Unverricht-Lundborg disease in the available sibling with PME/CD. In the sibling with ICD (heterozygote for expansion mutation in CSTB) we demonstrated recombination event between the D21S2040 marker and the CSTB gene and identified c.207delC (p.T70Xfs) mutation in the fourth exon of the transmembrane protease, serine-3 (TMPRSS3) gene (maps in close proximity to CSTB), responsible for nonsyndromic deafness in the sibling with PME/CD as well.
  
  
  CONCLUSIONS
  To the best of our knowledge this is the first genetic confirmation of the coexistence of these two mutations.
authors.affiliation: Faculty of Biology, University of Belgrade, Belgrade, Serbia.
authors.forename: Miljana
authors.initials: M
authors.lastname: Kecmanović
authors.forename: Aleksandar J
authors.initials: AJ
authors.lastname: Ristić
authors.forename: Dragoslav
authors.initials: D
authors.lastname: Sokić
authors.forename: Milica
authors.initials: M
authors.lastname: Keckarević-Marković
authors.forename: Nikola
authors.initials: N
authors.lastname: Vojvodić
authors.forename: Marko
authors.initials: M
authors.lastname: Ercegovac
authors.forename: Slavko
authors.initials: S
authors.lastname: Janković
authors.forename: Dusan
authors.initials: D
authors.lastname: Keckarević
authors.forename: Dusanka
authors.initials: D
authors.lastname: Savić-Pavićević
authors.forename: Stanka
authors.initials: S
authors.lastname: Romac
mesh_terms: D000293:Adolescent; D000328:Adult; D055313:Cystatin B / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D042622:DNA Repeat Expansion / Q000235:genetics; D003638:Deafness / Q000453:epidemiology* / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D012697:Serine Endopeptidases / Q000235:genetics; D020194:Unverricht-Lundborg Syndrome / Q000453:epidemiology* / Q000235:genetics*
chemical_list: C524994:CSTB protein, human; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D055313:Cystatin B; D012697:Serine Endopeptidases; C409042:TMPRSS3 protein, human