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Coexistence of Unverricht‐Lundborg disease and congenital deafness: Molecular resolution of a complex comorbidity
Author(s) -
Kecmanović Miljana,
Ristić Aleksandar J.,
Sokić Dragoslav,
KeckarevićMarković Milica,
Vojvodić Nikola,
Ercegovac Marko,
Janković Slavko,
Keckarević Dušan,
SavićPavićević Dušanka,
Romac Stanka
Publication year - 2009
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2008.01937.x
Subject(s) - progressive myoclonus epilepsy , genetics , sibling , mutation , exon , lafora disease , compound heterozygosity , biology , gene , psychology , developmental psychology , phosphorylation , phosphatase
Summary Purpose : 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. Methods and 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. Discussion : To the best of our knowledge this is the first genetic confirmation of the coexistence of these two mutations.