Combined genome sequencing and RNA analysis reveals and characterizes a deep intronic variant in IGHMBP2 in a patient with SMARD1

Pathogenic variants in the IGHMBP2 gene cause recessive spinal motor neuropathies of variable phenotype, including a predominantly distal motor impairment of Charcot-Marie Tooth type 2S and the more severe condition of spinal muscular atrophy with respiratory distress (SMARD1) in which infantile respiratory failure predominates.

Source: Pediatric Neurology - September 26, 2020 Category: Neurology Authors: Ethan E. Bodle, Wenmiao Zhu, Frances Velez-Bartolomei, Ana Tesi-Rocha, Pengfei Liu, Jonathan A. Bernstein Tags: Editorial Source Type: research