Publications by authors named "P Lahermo"
Background And Objectives: To determine the genetic cause of the disease in the previously reported family with adult-onset autosomal dominant distal myopathy (myopathy, distal, 3; MPD3).
Methods: Continued clinical evaluation including muscle MRI and muscle pathology. A linkage analysis with single nucleotide polymorphism arrays and genome sequencing were used to identify the genetic defect, which was verified by Sanger sequencing.
Using deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations were identified in ten patients from nine families in five different countries, suggesting that this disease could be prevalent in other populations as well. Haplotype analysis of patients with similar ancestry revealed two different founder mutations in Southern Europe and France, indicating that the prevalence in these populations may be higher.
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- The study aimed to explore the genetic causes of childhood-onset ataxias in Finland by analyzing fifty families whose children showed symptoms before age five.
- Researchers utilized next generation sequencing and a genome-wide genotyping array to find genetic variations that may not be detected through standard exome sequencing.
- The findings revealed that 40% of patients had identifiable genetic causes, with a significant number of mutations being de novo, indicating unique mutations not inherited from parents, highlighting the complex genetic landscape of ataxia in children.
Background: The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a "Systematic Survey of Balanced Chromosomal Rearrangements in Finns.
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