Publications by authors named "Y van Ierland"
Article Synopsis
- Pathogenic variants in KMT5B, a lysine methyltransferase, are linked to global developmental issues, macrocephaly, autism, and other congenital anomalies, but the disorder is still not fully understood.
- A study examining 43 patients revealed new significant features like hypotonia and congenital heart defects not previously associated with this condition.
- Research using patient cell lines and KMT5B knockout mice showed that these variants lead to slow growth and highlighted alterations in pathways related to nervous system development, enhancing our understanding of the disorder's molecular mechanisms.
For neurodevelopmental disorders (NDDs), a molecular diagnosis is key for management, predicting outcome, and counseling. Often, routine DNA-based tests fail to establish a genetic diagnosis in NDDs. Transcriptome analysis (RNA sequencing [RNA-seq]) promises to improve the diagnostic yield but has not been applied to NDDs in routine diagnostics.
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- * A case study of a patient and his mildly affected mother highlights a new family example of this microduplication, revealing significant congenital anomalies and growth restrictions in the patient, while displaying less impact on the mother.
- * The research identifies the smallest documented duplication at this genetic locus and emphasizes the variability in how this condition affects different individuals within the same family.
Article Synopsis
- Pathogenic PTEN germline variants lead to PTEN Hamartoma Tumor Syndrome (PHTS), which exhibits a range of symptoms and genetic mutations, underscoring the importance of understanding these associations for better diagnostics and personalized treatment.
- A study involving 510 patients identified 268 pathogenic variants, revealing trends such as adults having more truncating variants and children more often presenting with macrocephaly and developmental delays.
- Findings suggest that the type of PTEN variant (missense vs. truncating) correlates with the age of disease onset and specific phenotypes, indicating that genetic variation influences the clinical features of PHTS.
Neurofibromatosis type 1 (NF1) is caused by inactivating mutations in NF1. Due to the size, complexity, and high mutation rate at the NF1 locus, the identification of causative variants can be challenging. To obtain a molecular diagnosis in 15 individuals meeting diagnostic criteria for NF1, we performed transcriptome analysis (RNA-seq) on RNA obtained from cultured skin fibroblasts.
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