New mutations and genotype-phenotype correlation in late-onset Pompe patients
| Autor: | Can Ebru Bekircan-Kurt, Sevim Erdem-Ozdamar, Esen Saka, Hafize Nalan Güneş, F. Gokcem Yildiz, Ersin Tan |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Adult Male medicine.medical_specialty Neurology DNA Mutational Analysis Late onset Disease medicine.disease_cause Compound heterozygosity Gastroenterology 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Glycogen storage disease Humans Allele Age of Onset Genetic Association Studies Cerebral atrophy Mutation business.industry Glycogen Storage Disease Type II alpha-Glucosidases General Medicine medicine.disease Surgery 030104 developmental biology Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Acta neurologica Belgica. 117(1) |
| ISSN: | 2240-2993 |
| Popis: | Pompe disease is a glycogen storage disease caused by acid alfa-glucosidase deficiency. Here, we report clinical properties, genetic features of our late-onset Pompe patients. Seven patients were followed during the last 10 years in our institute. The clinical and laboratory findings were reviewed. Neuropsychological evaluation was performed in four patients. Myotonic discharges of paraspinal muscles and denervation potentials were seen in all patients at the diagnosis and were disappeared during follow-up in two. Only one patient, whose MRI showed cerebral atrophy, had attention and executive dysfunction. Compound heterozygous patients with IVS 1-13T>G have a milder disease. One patient who has homozygous IVS 1-13T>G mutation had more severe disease. Two of our patients who had very severe and fatal disease course carry double mutations on both alleles (c.547-39T>G and c.858+5ins7) that previously scored as "unknown" in Erasmus Pompe Center database. Lastly, we found new mutations (c.1209 C>A, 2737dupG) in two patients carrying IVS 1-13T>G in the other allele. Systemic involvements are very rare in late-onset Pompe patients. Similarly, Pompe disease does not cause cognitive impairment in adult population. Homozygous IVS 1-13T>G mutation and c.547-39T>G mutation which are previously noted as "unknown" pathogenicities cause a more severe disease. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink