<i>LSM1</i> c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort
Our findings establish <i>LSM1</i>, and specifically the c.231+4A>C homozygous variant, as causative for a novel autosomal recessive syndromic neurodevelopmental disorder. These results expand the understanding of <i>LSM1</i>-related diseases and provide a foundation for further investigation of its molecular mechanisms.
Authors
- Motee Al-Ashhab
- Adi Mory (ORCID: https://orcid.org/0000-0003-0487-9633)
- Adi Reches
- Alina Kurolap (ORCID: https://orcid.org/0000-0002-7005-3621)
- Nadirah Damseh (ORCID: https://orcid.org/0000-0002-2673-7612)
- Florian Erger (ORCID: https://orcid.org/0000-0002-2768-1702)
- Hagit Baris Feldman (ORCID: https://orcid.org/0000-0003-4065-7560)
- Bassam Abu‐Libdeh
- Tzung‐Chien Hsieh (ORCID: https://orcid.org/0000-0003-3828-4419)
- Hellen Lesmann (ORCID: https://orcid.org/0000-0001-7985-1702)
- Vera Riehmer (ORCID: https://orcid.org/0000-0002-2276-9983)
- Chofit Chai Gadot
- Abdel Salam Abu-Libdeh
- Clara Velmans (ORCID: https://orcid.org/0000-0002-3352-1035)
- Sivan Reytan Miron
- Christian Netzer
Institutions
- Tel Aviv University (IL)
- Al-Quds University (PS)
- University Hospital Bonn (DE)
- Tel Aviv Sourasky Medical Center (IL)
- Academic College of Tel Aviv-Yafo (IL)
- University Hospital Cologne (DE)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-04-09
- DOI
- https://doi.org/10.1136/jmg-2024-110574
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00