AUTHOR=Tian Yuan , Xing Jinfang , Shi Ying , Yuan Enwu 

TITLE=Exploring the relationship between IGHMBP2 gene mutations and spinal muscular atrophy with respiratory distress type 1 and Charcot-Marie-Tooth disease type 2S: a systematic review

JOURNAL=Frontiers in Neuroscience

VOLUME=17

YEAR=2023

URL=https://www.frontiersin.org/journals/neuroscience/articles/10.3389/fnins.2023.1252075

DOI=10.3389/fnins.2023.1252075

ISSN=1662-453X

ABSTRACT=<sec id="sec1"><title>Background</title><p><italic>IGHMBP2</italic> is a crucial gene for the development and maintenance of the nervous system, especially in the survival of motor neurons. Mutations in this gene have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth disease type 2S (CMT2S).</p></sec><sec id="sec2"><title>Methods</title><p>We conducted a systematic literature search using the PubMed database to identify studies published up to April 1st, 2023, that investigated the association between <italic>IGHMBP2</italic> mutations and SMARD1 or CMT2S. We compared the non-truncating mutations and truncating mutations of the <italic>IGHMBP2</italic> gene and selected high-frequency mutations of the <italic>IGHMBP2</italic> gene.</p></sec><sec id="sec3"><title>Results</title><p>We identified 52 articles that investigated the association between <italic>IGHMBP2</italic> mutations and SMARD1/CMT2S. We found 6 hotspot mutations of the <italic>IGHMBP2</italic> gene. The truncating mutations in trans were all associated with SMARD1.</p></sec><sec id="sec4"><title>Conclusion</title><p>This study provides evidence that the complete LOF mechanism of the <italic>IGHMBP2</italic> gene defect may be an important cause of SMARD1.</p></sec>