Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA
pmid: 35219815
Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA
SMA is a neuromuscular disease and occurs primarily through autosomal recessive inheritance. Identification of deletions in the SMN1 gene especially in the exon 7 and exon 8 regions (hot spot), are used in carrier testing. The exact copy numbers of those exons in the SMN1 and SMN2 genes in 113 patients who presented with a pre-diagnosis of SMA were determined using MLPA method. We aimed to reveal both the most common copy number profiles of different SMA types. It was found that the frequency of homozygous deletions in SMN1 was 15.9%, while heterozygous deletions was 16.9%. The most common SMN-MLPA profile was 0-0-3-3. In the cases with homozygous deletion, SMA type III diagnosis was observed most frequently (44%), and the rate of consanguineous marriage was found 33%. Two cases with the same exonic copy number profile but with different clinical subtypes were identified in a family. We also detected distinct exonic deletion and duplication MLPA profiles for the first time. We created "the SMA signature" that can be added to patient reports. Furthermore, our data are important for revealing potential local profiles of SMA and describing the disease in genetic reports in a way that is clear and comprehensive.
- Bozok Universitesi Turkey
- Akdeniz University Turkey
- Radboud University Nijmegen Medical Centre Netherlands
Adult, Male, Adolescent, DNA Copy Number Variations, Infant, Newborn, Infant, Exons, Middle Aged, Survival of Motor Neuron 1 Protein, Muscular Atrophy, Spinal, Survival of Motor Neuron 2 Protein, Consanguinity, Young Adult, Mutation Rate, Child, Preschool, Humans, Female, Child, Aged, Sequence Deletion
Adult, Male, Adolescent, DNA Copy Number Variations, Infant, Newborn, Infant, Exons, Middle Aged, Survival of Motor Neuron 1 Protein, Muscular Atrophy, Spinal, Survival of Motor Neuron 2 Protein, Consanguinity, Young Adult, Mutation Rate, Child, Preschool, Humans, Female, Child, Aged, Sequence Deletion
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