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Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene
Author(s) -
van der Sluijs Barbara M.,
van Engelen Baziel G.M.,
Hoefsloot Lies H.
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9138
Subject(s) - oculopharyngeal muscular dystrophy , biology , exon , genetics , gene duplication , muscular dystrophy , gene , mutation , locus (genetics) , trinucleotide repeat expansion , microbiology and biotechnology , allele
Oculopharyngeal muscular dystrophy (OPMD) is a late onset autosomal dominant muscle disorder. The OPMD‐locus has been mapped to chromosome 14q11.2‐q13. The polyadenylate binding protein nuclear 1 (PABPN1; PABP2) gene has been identified as the mutated gene. The mutation consists of a short meiotically stable trinucleotide repeat in the first exon of PABPN1 gene. We have investigated Dutch OPMD patients from four unrelated families and identified a new mutation in two of the four families. Instead of a repeat expansion we found a duplication in the first exon of the PABPN1 gene (c.27_28ins12, p.11_12insAAAA). The identification of this new mutation supports the theory of unequal crossing‐over as molecular mechanism causing the mutation in the PABPN1 gene responsible for OPMD, and not the slippage model. 2003 Wiley‐Liss, Inc