Novel mutation in the IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1: A case report.

ABSTRACT

Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive hereditary disease. Immunoglobulin µ-binding protein 2 (IGHMBP2) gene mutations are the main cause of SMARD1. Case presentation Here we describe a female infant with SMARD1 carrying heterozygous mutations in IGHMBP2 genes, c.1334A > C(p.His445Pro) and c.1666C > G(p.His556Asp), 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: c.1666C > G(p.His556Asp) is a novel site mutation in IGHMBP2. 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.