Publications by authors named "Mariem El Younsi"
Article Synopsis
- - Alport syndrome is a genetic disorder impacting the kidneys, ears, and eyes, caused by mutations in specific COL4A genes, with varying inheritance patterns including X-linked and autosomal recessive.
- - A study involving 45 patients from Tunisian families revealed 9 likely pathogenic variants, including 6 new ones, mostly in COL4A3 and COL4A5, and confirmed that many siblings tested positive for the condition.
- - The findings indicate that autosomal recessive inheritance may be more prevalent in Tunisia than previously thought, marking the first comprehensive screening of Alport syndrome mutations in the region.
Article Synopsis
- Nephropathic cystinosis is an autosomal recessive disorder linked to mutations in the CTNS gene affecting lysosomal cystine transport, and this study focuses on the genetic traits specific to Tunisian children with the condition.
- Researchers analyzed clinical data from 12 Tunisian patients and discovered a new mutation (c.971-1G > C) prevalent in half of the patients, indicating it might be a founder mutation; other mutations were also observed.
- The findings suggest that mutation patterns in the Tunisian population differ from other regions, highlighting the need for tailored molecular diagnostics and early treatment initiatives in Tunisia.
WDR73-related galloway mowat syndrome with collapsing glomerulopathy.
Eur J Med Genet
September 2019
Galloway-Mowat syndrome (GAMOS [MIM 251300]) is a rare autosomal recessive disorder that manifests as a combination of nephrotic syndrome, brain abnormalities and developmental delay. It is a clinically and genetically heterogeneous disease. The WDR73 variations are associated with GAMOS1.
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