Huang Chia-Ling, Wu Shey-Lin, Lai Szu-Chia, Lu Chin-Song, Wu-Chou Yah-Huei
Department of Neurology, Saint Paul's Hospital, Taoyuan, Taiwan.
Chang Gung Med J. 2010 Jan-Feb;33(1):44-50.
Oculopharyngeal muscular dystrophy (OPMD) is a rare inherited muscular disorder, clinically characterized by late-onset, slowly progressive bilateral ptosis, dysphagia, and proximal limb weakness. A short polyalanine expansion in the polyadenylate binding-protein nuclear 1 (PABPN1) gene is a commonly reported mutation.
We studied a large family with 12 affected members who inherited a dominant trait. Drooping of eye lids and dysphagia were characteristic phenotypes starting in the sixth decade. We collected blood samples from all available familial members and 30 control subjects. They were analyzed using modified polymerase chain reaction (PCR) amplification and direct sequence analysis.
The abnormally extended three GCG resulting in heterozygous (GCG)9 of PABPN1 gene was identified in four affected and two asymptomatic carriers, but not in the 30 control individuals. The expansion of the PABPN1 polyalanine tract which resulted from 10 to 13 alanines was further confirmed by subcloning into TOPO cloning vectors.
The phenotypic characteristics and genetic information confirmed our diagnosis of OPMD. We suggest that genetic intervention should be undertaken to understand the genetic epidemiology and provide counseling for carriers of OPMD in Taiwan.
眼咽型肌营养不良症（OPMD）是一种罕见的遗传性肌肉疾病，临床特征为迟发性、缓慢进展的双侧上睑下垂、吞咽困难和近端肢体无力。聚腺苷酸结合蛋白核1（PABPN1）基因中的短聚丙氨酸扩展是一种常见报道的突变。
我们研究了一个有12名受影响成员的大家庭，他们遗传了一种显性性状。眼睑下垂和吞咽困难是始于第六个十年的特征性表型。我们从所有可获得的家族成员和30名对照受试者中采集了血样。使用改良聚合酶链反应（PCR）扩增和直接序列分析对其进行分析。
在4名受影响者和2名无症状携带者中鉴定出导致PABPN1基因杂合（GCG）9的异常延伸的三个GCG，但在30名对照个体中未发现。通过亚克隆到TOPO克隆载体中进一步证实了PABPN1聚丙氨酸序列从10个丙氨酸扩展到13个丙氨酸。
表型特征和遗传信息证实了我们对OPMD的诊断。我们建议应进行基因干预，以了解遗传流行病学，并为台湾的OPMD携带者提供咨询。
