Publications by authors named "Christian Wentzel"
Article Synopsis
- - Sphingolipids are important lipids for cell function and nerve health; issues with their metabolism are linked to nervous system disorders.
- - The enzyme DEGS1 is crucial for producing ceramide from dihydroceramide, and mutations in this enzyme can lead to serious conditions like leukodystrophy.
- - Two new variants of the DEGS1 gene were studied, revealing that one variant (p.R311K) appears harmful while another (p.G270E) is likely benign, highlighting the potential importance of SPB 18:1(14Z);O2 as a specific biomarker for understanding these mutations.
Background: De novo mutations are a frequent cause of disorders related to brain development. We report the results of screening patients diagnosed with both epilepsy and intellectual disability (ID) using exome sequencing to identify known and new causative de novo mutations relevant to these conditions.
Methods: Exome sequencing was performed on 39 patient-parent trios to identify de novo mutations.
Here we report a case of two siblings with reciprocal aberrations, one presenting with a deletion and the other carrying two novel duplications at 6q13q16.1. Interestingly, both alterations were inherited from a healthy mother carrying a non-reciprocal translocation of 6q13q16 to 15q11.
View Article and Find Full Text PDFArticle Synopsis
- The study discusses the improved detection of genetic abnormalities in patients with developmental delays due to the use of genomic microarrays.
- It reports on six new patients with overlapping microdeletions in a specific chromosome region (10p12.31p11.21), which includes the WAC gene linked to cell processes.
- All seven patients exhibit developmental delays, behavioral issues, facial dysmorphisms, visual impairments, and numerous cardiac defects, suggesting these genetic deletions may constitute a new contiguous gene syndrome.
The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects. Both patients with a de novo 22q11.
View Article and Find Full Text PDF