Clinical and genetic landscape of IGHMBP2 -related disorders: From novel variants to phenotypic insights
Document Type
Case Report
Department
Paediatrics and Child Health; Neurology
Abstract
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 variants. Genotype-phenotype correlations are evident, highlighting the association of specific variants with SMARD1 or AR-CMT2S. This study expands the spectrum of the IGHMBP2-related disease and highlights the necessity to study diverse populations to enhance diagnostic accuracy and refine genotype-phenotype correlations.
Publication (Name of Journal)
American Journal of Medical Genetics. Part A
DOI
10.1002/ajmg.a.64116
Recommended Citation
Tkemaladze, T.,
Bregvadze, K.,
Abashishvili, L.,
Chikvinidze, G.,
Vega, A. D.,
Akbar, F.,
Khan, S.,
Kirmani, S.
(2025). Clinical and genetic landscape of IGHMBP2 -related disorders: From novel variants to phenotypic insights. American Journal of Medical Genetics. Part A, 197(9), e64116.
Available at:
https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/1594
Comments
Pagination are not provided by the author/publisher.