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Background  Spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis. Due to the high carrier frequency, the burden of this genetic disorder is very heavy in developing countries like India. As there is no cure or effective treatment, genetic counseling becomes very important in disease management.  SMN1  dosage analysis results can be utilized for identifying carriers before offering prenatal diagnosis in the context of genetic counseling.    Methods  In the present study we analyzed the carrier status of parents and sibs of proven SMA patients. In addition,  SMN1  copy number was determined in suspected SMA patients and parents of children with a clinical diagnosis of SMA.    Results  wenty nine DNA samples were analyzed by quantitative PCR to determine the number of  SMN1  gene copies present, and 17 of these were found to have one  SMN1  gene copy. The parents of confirmed SMA patients were found to be obligate carriers of the disease. Dosage analysis was useful in ruling out clinical suspicion of SMA in four patients. In a family with history of a deceased floppy infant and two abortions, both parents were found to be carriers of SMA and prenatal diagnosis could be offered in future pregnancies.    Conclusion   SMN1  copy number analysis is an important parameter for identification of couples at risk for having a child affected with SMA and reduces unwarranted prenatal diagnosis for SMA. The dosage analysis is also useful for the counseling of clinically suspected SMA with a negative diagnostic SMA test.

SMN1dosage analysis in spinal muscular atrophy from India