Publications by authors named "R M'rad"
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.
Background: Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to 1% of SCD cases per year.
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- 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.
Background: Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. CS patients display a large heterogeneity of clinical symptoms and severities, the reason of which is not fully understood, and that cannot be anticipated in the diagnostic phase. In addition, little data is available for affected siblings, and this disease is largely undiagnosed in North Africa.
View Article and Find Full Text PDFBackground: Li-Fraumeni syndrome (LFS) is a rare autosomal hereditary predisposition to multiples cancers, mainly affecting young individuals. It is characterized by a broad tumor spectrum. To our best knowledge, only one Tunisian study with a confirmed LFS was published.
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