Unaffected patients with a homozygous absence of the SMN1 gene
| Autor: | Walenty M. Nyka, Maria Jędrzejowska, Janusz Zimowski, Michał Milewski, Jacek Zaremba, Janina Borkowska, Ewa Kostyk, Marta Jurek, Danuta Sielska, Irena Hausmanowa-Petrusewicz, Anna Kostera-Pruszczyk |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male Adolescent Gene Dosage Spinal Amyotrophy Nerve Tissue Proteins SMN1 Biology Gene dosage Asymptomatic Muscular Atrophy Spinal Genetics medicine Humans Child Cyclic AMP Response Element-Binding Protein Gene Genetics (clinical) Cells Cultured Homozygote Infant RNA-Binding Proteins SMN Complex Proteins Fibroblasts SMA Phenotype Survival of Motor Neuron 1 Protein nervous system diseases Pedigree Survival of Motor Neuron 2 Protein Female medicine.symptom Asymptomatic carrier |
| Zdroj: | European journal of human genetics : EJHG. 16(8) |
| ISSN: | 1018-4813 |
| Popis: | In this report, we present three families in which we identified asymptomatic carriers of a homozygous absence of the SMN1 gene. In the first family, the bialleleic deletion was found in three of four siblings: two affected brothers (SMA type 3a and 3b) and a 25-years-old asymptomatic sister. All of them have four SMN2 copies. In the second family, four of six siblings are affected (three suffer from SMA2 and one from SMA3a), each with three SMN2 copies. The clinically asymptomatic 47-year-old father has the biallelic deletion and four SMN2 copies. In the third family, the biallelic SMN1 absence was found in a girl affected with SMA1 and in her healthy 53-years-old father who had five SMN2 copies. Our findings as well as those of other authors show that an increased number of SMN2 copies in healthy carriers of the biallelic SMN1 deletion is an important SMA phenotype modifier, but probably not the only one. |
| Databáze: | OpenAIRE |
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