ArticleFrontiers in genetics2025
The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation in
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1, OMIM #604320) is a rare autosomal recessive hereditary degenerative motor neuron disease caused by mutations in IGHMBP2. There is a lack of data from China. This study investigated the clinical characteristics and genetic roots of SMARD1 patients. Methods: Routine detailed clinical assessments, laboratory examinations, and imaging assays were performed. Genetic variations in the families were investigated using whole-exome sequencing and Sanger sequencing, and then bioinformatic analyses were performed on the identified variant. Results: Here, we describe three female patients with SMARD1 from three unrelated families carrying compound heterozygous mutations in the Conclusion: This study broadened the knowledge on the genetic profile of SMARD1, improved pediatricians' awareness of early identification and diagnosis, and offers useful data for patient clinical management.
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