Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.

New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy

BACKGROUND Spinal muscular atrophy (SMA) is the most common autosomal recessive disease in children, and the diagnosis is complicated and difficult, especially at early stage. Early diagnosis of SMA is able to improve the outcome of SMA patients. In our study, Real-time PCR was developed to measure the gene mutation or deletion of key genes for SMA and to further analyse genotype-phenotype corr...

Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future

Primary immunodeficiency diseases (PID) are a heterogeneous group of disorders caused by inborn errors of immunity, with affected children presenting with severe, recurrent or unusual infections. Over 300 distinct genetic molecular abnormalities resulting in PID have been identified, and this number continues to rise. Newborn screening for PID has been established in many countries, with the ma...

Investigation of carrier frequency for spinal muscular atrophy in Thailand using dried blood spot specimens

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder, characterized by the degeneration of motor neurons of the spinal cord, thus leading to the deaths of newborns. More than 95% of SMA patients are caused by the absence of survival motor neuron 1 (SMN1) gene exon 7, located on chromosome 5q13. The SMA disease prevalence and SMA mutations in Thailand have never been reported...

Assessment of Preimplantation Genetic Diagnosis (PGD) for Childhood-onset Spinal Muscular Atrophy (SMA) Using Duplex Fluorescent PCR

Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling.

BACKGROUND The management options for the autosomal recessive neurodegenerative disorder spinal muscular atrophy (SMA) are evolving; however, their efficacy may require presymptom diagnosis and continuous treatment. To identify presymptomatic SMA patients, we created a DNA-based newborn screening assay to identify the homozygous deletions of the SMN1 (survival of motor neuron 1, telomeric) gene...