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PubMed · 873805

[Ascher's syndrome].

L Suter·F Vakilzadeh
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Abstract

A case of Ascher's syndrome with blepharochalasis and double upper lip is described. It is emphasized that the combined appearance of these two symptoms is essential for the definition of this syndrome.

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BlepharoptosisCongenital AbnormalitiesEyelid DiseasesGoiterHumansLipMaleMiddle AgedSyndromeCase ReportsEnglish AbstractJournal Article

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L Suter, F Vakilzadeh. 1977. [Ascher's syndrome].. https://pubmed.ncbi.nlm.nih.gov/873805/

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Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disorder characterized by progressive dysphagia and bilateral ptosis. Mutations in the polyadenylate binding protein nuclear 1 (PABPN1) gene have been found to cause OPMD. The typical mutation is a stable trinucleotide repeat expansion in the first exon of the PABPN1 gene, in which (GCG)(6) is the normal repeat length. We investigated a Korean patient with OPMD and identified a novel mutation: a heterozygous insertion of a 9-bp sequence [(GCG)(GCA)(GCA); c.27_28insGCGGCAGCA] instead of the (GCG) repeat expansion, resulting in an in-frame insertion of three alanines (p.A10insAAA). To the best of our knowledge, this is the first report of a genetically confirmed case of OPMD in Korea.

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