先天性肌营养不良中的POMGnT1突变：基因型-表型相关性及临床谱扩展
POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
作者信息
Biancheri Roberta, Bertini Enrico, Falace Antonio, Pedemonte Marina, Rossi Andrea, D'Amico Adele, Scapolan Sara, Bergamino Laura, Petrini Stefania, Cassandrini Denise, Broda Paolo, Manfredi Mario, Zara Federico, Santorelli Filippo M, Minetti Carlo, Bruno Claudio
机构信息
Muscular and Neurodegenerative Disease Unit, Department of Neuroscience and Rehabilitation, University of Genova, Italy.
出版信息
Arch Neurol. 2006 Oct;63(10):1491-5. doi: 10.1001/archneur.63.10.1491.
BACKGROUND
Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations.
OBJECTIVE
To describe the clinical and molecular features of 3 Italian patients with POMGnT1 mutations.
DESIGN
Case reports.
PATIENTS
One patient had muscle and brain abnormalities without eye involvement. Two patients had a classic muscle-eye-brain disease phenotype with different levels of clinical severity.
RESULTS
Brain magnetic resonance imaging showed cortical malformation and posterior fossa involvement. Immunofluorescence for glycosylated alpha-dystroglycan performed on muscle biopsy specimens demonstrated an absent signal in 1 patient and reduced staining in 2 patients. Molecular analysis identified 5 mutations, 2 of which are novel.
CONCLUSION
This article adds to what is known about the genotype-phenotype correlation and expands our awareness of the clinical spectrum associated with POMGnT1 mutations.
背景
肌-眼-脑病是一种由于POMGnT1基因突变导致的伴有眼部和脑部病变的先天性肌营养不良症。
目的
描述3例携带POMGnT1基因突变的意大利患者的临床和分子特征。
设计
病例报告。
患者
1例患者有肌肉和脑部异常，但无眼部受累。2例患者具有典型的肌-眼-脑疾病表型，临床严重程度不同。
结果
脑磁共振成像显示皮质畸形和后颅窝受累。对肌肉活检标本进行的糖基化α- dystroglycan免疫荧光检测显示，1例患者信号缺失，2例患者染色减少。分子分析鉴定出5种突变，其中2种为新突变。
结论
本文补充了关于基因型-表型相关性的已知信息，并扩展了我们对与POMGnT1突变相关的临床谱的认识。
Zotero 插件