Publications by authors named "Louis Januel"
Article Synopsis
- * A study identified 25 individuals with new variations in the MSL2 gene, who exhibited NDD symptoms such as developmental delays, coordination problems, and autism spectrum disorder, along with other health concerns.
- * iPSCs from affected individuals showed reduced MSL2 levels and changes in gene expression, leading to the characterization of a new MSL2-related disorder with unique clinical markers and a specific DNA episignature for diagnosis.
Article Synopsis
- * The study focused on an Italian family with four affected members (the mother and three siblings) who exhibited myotonia, along with two of them having JME; genetic testing revealed a shared variant in the SCN4A gene among those affected.
- * Findings suggest that the myotonia and epilepsy in this family may stem from the same genetic mutation in the SCN4A gene, indicating that
Am J Med Genet A
July 2024
Article Synopsis
- * The study presented data on five new patients and analyzed previous reports, identifying critical gene regions within 20q that may be responsible for observed syndromic features, which include two main regions containing disease-related genes.
- * Researchers suggest that GDF5 is the main gene associated with the syndrome linked to 20q11.2 deletions, while TOP1 may play a role in the second critical region at 20q12, noting the need for further
Eur J Med Genet
February 2024
Article Synopsis
- Developmental and epileptic encephalopathies (DEEs) are severe conditions marked by both seizures and developmental delays, often linked to genetic causes that are increasingly identified through advanced sequencing technologies.
- A specific pathogenic variant in the GRM7 gene, responsible for encoding a certain receptor in the brain, has been identified as a cause of a severe DEE, typically inherited in an autosomal recessive manner.
- This report presents five patients from three families with mutations in the GRM7 gene, contributing to the literature on this rare syndrome and helping to clarify the relationship between genetic variation and clinical outcomes.
Front Neurol
February 2023
Article Synopsis
- - Nucleoporin (NUP) 85 is essential for various cellular processes, and mutations in its gene are linked to multiple human diseases, including steroid-resistant nephrotic syndrome (SRNS).
- - Recent findings expand the range of disorders associated with NUP85 by identifying variants in individuals with primary autosomal recessive microcephaly (MCPH) and Seckel syndrome (SCKS), revealing a broader impact of NUP85 mutations.
- - The study demonstrates that certain missense variants diminish cell viability in fibroblasts and may disrupt the structural integrity and interactions of NUP85, highlighting its importance in brain development and function.
Article Synopsis
- - The study focuses on 46,XX SRY-positive males, who have a testicular disorder due to a translocation of the SRY gene, highlighting possible connections between short stature and complex chromosomal rearrangements.
- - Research involved data from 12 laboratories, revealing that 89.5% of patients had SRY present and various X chromosome breakpoints, impacting gene structures, particularly with the ARSE gene in some cases.
- - Despite observing differences in chromosome structure, the height comparison between patients with and without ARSE deletion showed no significant statistical difference, indicating other factors may influence stature in these individuals.
J Clin Immunol
August 2022
Article Synopsis
- DNASE1L3 is an enzyme linked to the breakdown of chromatin from dying cells and is associated with lupus, but its role in interferon signaling in humans is not fully understood.
- In this study, researchers analyzed five new patients with rare DNASE1L3 mutations, finding that they exhibited a temporary increase in interferon-stimulated genes during disease activity.
- The findings underscore the severity of DNASE1L3 deficiencies, which often lead to conditions like lupus nephritis and other serious symptoms, with additional patients reviewed revealing a general trend of poor outcomes.
Article Synopsis
- Inherited cardiac diseases are complex and diverse, making molecular diagnosis difficult; this study involved 4185 patients with various cardiac conditions to investigate genetic factors linked to these diseases.*
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- Using next-generation sequencing, about 30% of patients had (likely) pathogenic genetic variations, with specific variations found more prominently in patients who experienced sudden cardiac death.*
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- The research highlights the importance of identifying unexpected genetic variants, which can improve clinical management; it suggests that a whole-genome sequencing (WGS) approach may not significantly enhance mutation detection rates due to the concentration of pathogenic variations in known disease-related genes.*
Article Synopsis
- Dilated cardiomyopathy (DCM) is a common heart problem that can lead to heart failure, often caused by certain genetic mutations.
- The study looked for hidden genetic mistakes in specific genes to see if they could be causing DCM in some patients.
- They found that these hidden mutations likely don't cause a lot of DCM cases, meaning that testing for them might not help doctors find new reasons for heart problems in DCM patients.
