Article
Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.
American journal of medical genetics. Part A - 1 Sept 2025
Tkemaladze Tinatin, Bregvadze Kakha, Abashishvili Luka, Chikvinidze Gocha, Delgado Vega Angelica Maria, Akbar Fizza, Khan Sara, Kirmani Salman
Abstract excerpt
Pathogenic variants in IGHMBP2 have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Autosomal Recessive Charcot-Marie-Tooth disease type 2S (AR-CMT2S), as well as a relatively wide spectrum of rare, atypical phenotypes. We describe clinical and molecular features of five patients who have diverse clinical findings associated with known and novel IGHMBP2 pathogenic...
Topics
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Male
- Charcot-Marie-Tooth Disease
- DNA-Binding Proteins
- Genetic Association Studies
- Genetic Predisposition to Disease