A GCG expansion (GCG)₁₁ in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family.

ABSTRACT:

Purpose

To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD).

Methods

Clinical and ophthalmologic examinations were conducted on available living family members from three generations. Genomic DNA was extracted from peripheral blood leukocytes of every available family member, and the fragment flanking the (GCG)(n) of the PABPN1 gene was amplified by PCR. Mutations were screened by DNA sequencing. Photographs of deceased family members were examined for signs of OPMD.

Results

Clinical features of OPMD were found in all patients in generation II except the youngest sister, and no clinical manifestations were found in g

SUBMITTER: Ye J 

PROVIDER: S-EPMC3108037 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature