Clinical and molecular genetic studies of a Chinese family with oculopharyngeal muscular dystrophy

VernacularTitle:眼咽型肌营养不良一家系临床与分子遗传学研究
Author: Yonghong CHEN ; Yuesheng LONG ; Lili CAI ; Hailong WANG ; Biao MA ; Junyi FU ; Yong XIA ; Xinyi LI ; Longchang XIE
Publication Type:Journal Article
Keywords: Ptosis; Dysphagia; Oculopharyngeal muscular dystrophy; Polyadenylate binding protein nuclear 1 (PABPN1) gene
From: Chinese Journal of Nervous and Mental Diseases 2015;(6):336-340
CountryChina
Language:Chinese
Abstract: Objective To investigate the clinical and molecular genetic changes in a Chinese family with oculopha?ryngeal muscular dystrophy(OPMD). Methods We collected the clinical data of the familial members and blood sam?ples from all available 16 familial members, including the proband. The samples were analyzed using modified poly?merase chain reaction amplification and direct sequence analysis. Results Male OPMD patients initially presented with ptosis, followed by pronunciation difficulty, dysphagia and limb weakness whereas female OPMD patients initially pre?sented with swallowing difficulty. Genetic test revealed the abnormal expansions of the GCG trinucleotide repeat from GCG6 to GCG10 in PABPN1 gene in 10 familial members. Conclusions The genetic test and prenatal diagnosis is the key for the prevention treatment of oculopharyngeal muscular dystrophy. The ptosis of eyelid may be the initial symptom for the male patients of oculopharyngeal muscular dystrophy with (GCG)10 mutation.