Publications by authors named "A Bruselles"
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs and toes, short stature, and various degrees of intellectual disability. The clinical presentation of RSTS is notably variable, making it challenging to establish a clear genotype-phenotype correlation, except for specific variants which cause the allelic Menke-Hennekam syndrome.
View Article and Find Full Text PDFThis comprehensive review provides insights and suggested strategies for the analysis of germline variants using second- and third-generation sequencing technologies (SGS and TGS). It addresses the critical stages of data processing, starting from alignment and preprocessing to quality control, variant calling, and the removal of artifacts. The document emphasized the importance of meticulous data handling, highlighting advanced methodologies for annotating variants and identifying structural variations and methylated DNA sites.
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- Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare metabolic disorder caused by genetic mutations, affecting the body's ability to process fatty and amino acids, occurring in about 1 in 200,000 live births.
- MADD manifests in three ways: severe neonatal-onset, which may include additional congenital anomalies, and a milder late-onset variant, with diagnosis supported by advanced urine and blood tests.
- Researchers successfully diagnosed a newborn with a unique intronic mutation using whole-genome and RNA sequencing, emphasizing the need to analyze RNA to uncover hidden genetic issues that typical methods might miss.
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- Bardet-Biedl syndrome (BBS) is a rare genetic disorder with symptoms like vision loss, obesity, extra fingers or toes, cognitive issues, and genitourinary defects, caused by mutations in various genes.
- An 18-year-old boy showing symptoms of BBS underwent genetic testing, but initial methods didn't provide a clear diagnosis until whole-genome sequencing revealed two significant genetic changes affecting the BBS9 protein.
- The study emphasizes the importance of whole-genome sequencing for diagnosing rare diseases and highlights the need for functional validation to better understand the impact of genetic variants.
Hematopoietic stem cell gene therapy (GT) using a γ-retroviral vector (γ-RV) is an effective treatment for Severe Combined Immunodeficiency due to Adenosine Deaminase deficiency. Here, we describe a case of GT-related T-cell acute lymphoblastic leukemia (T-ALL) that developed 4.7 years after treatment.
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