PABPN1 (GCN)11作为眼咽型肌营养不良的显性等位基因——对临床诊断和遗传咨询的影响
PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling.
作者信息
Richard Pascale, Trollet Capucine, Gidaro Teresa, Demay Laurence, Brochier Guy, Malfatti Edoardo, Tom Fernando Ms, Fardeau Michel, Lafor Pascal, Romero Norma, Martin-N Marie-Laure, Sol Guilhem, Ferrer-Monasterio Xavier, Saint-Guily Jean Lacau, Eymard Bruno
机构信息
APHP, Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie M?bolique, Hôpitaux Universitaires La Pitié Salpêtrière - Charles Foix, 47-83, bld de l'hôpital, Paris cedex 13, France/UMRS 956-UPMC, Paris 6, France.
Sorbonne Universités, UPMC Univ Paris 06, UM76, INSERM U974, Institut de Myologie, CNRS FRE3617, 47 bd de l'Hôpital,Paris, France.
出版信息
J Neuromuscul Dis. 2015 Jun 4;2(2):175-180. doi: 10.3233/JND-140060.
Oculopharyngeal muscular dystrophy (OPMD) is mainly characterized by ptosis and dysphagia. The genetic cause is a short expansion of a (GCN)10 repeat encoding for polyalanine in the poly(A) binding protein nuclear 1 (PABPN1) gene to (GCN)12-17 repeats. The (GCN)11/Ala11 allele has so far been described to be either a polymorphism or a recessive allele with no effect on the phenotype in the heterozygous state. Here we report the clinical and histopathological phenotype of a patient carrying a single (GCN)11/Ala11 heterozygous allele and presenting an atypical form of OPMD with dysphagia and late and mild oculomotor symptoms. Intranuclear inclusions were observed in his muscle biopsy. This suggests a dominant mode of expression of the (GCN)11/Ala11 allele associated with a partial penetrance of OPMD.
眼咽型肌营养不良症（OPMD）主要特征为上睑下垂和吞咽困难。其遗传病因是多聚腺苷酸结合蛋白核1（PABPN1）基因中编码多聚丙氨酸的（GCN）10重复序列短片段扩展为（GCN）12 - 17重复序列。迄今为止，（GCN）11/Ala11等位基因被描述为一种多态性或隐性等位基因，在杂合状态下对表型无影响。在此，我们报告了一名携带单一（GCN）11/Ala11杂合等位基因的患者的临床和组织病理学表型，该患者表现为伴有吞咽困难以及迟发和轻度动眼神经症状的非典型OPMD形式。在其肌肉活检中观察到核内包涵体。这表明（GCN）11/Ala11等位基因的显性表达模式与OPMD的部分外显率相关。
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