Novel mutation in the gene in spinal muscular atrophy with respiratory distress type 1: A case report.

BACKGROUND

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive hereditary disease. Immunoglobulin μ-binding protein 2 () gene mutations are the main cause of SMARD1.

CASE PRESENTATION

Here we describe a female infant with SMARD1 carrying heterozygous mutations in genes, and which were inherited from both parents. Clinical presentations included frequent respiratory infections, respiratory failure, distal limb muscle weakness, and fat pad found at the distal toe.

CONCLUSIONS

is a novel site mutation in . This case expanded knowledge on the genetic profile of SMARD1 and it provides a basis for genetic testing of parents and for genetic counseling to assess the risk of fetal disease.