Inversion of the Frequencies of Autosomal Recessive and X-Linked Dominant Forms of Alport Syndrome in the Tunisian Population
El Younsi Mariem,
Ahlem Achour,
Lilia Kraoua
et al.
Abstract:Background:
Alport syndrome is defined by the co-occurrence of hematuria, renal failure, and a family history of renal failure or hematuria. Pathogenic variants in COL4A3, COL4A4, and COL4A5 cause this phenotype. These genes code for the α3, α4, and α5 chains of collagen IV found in the kidneys, eyes, and cochlea. This explains the frequent association of extra-renal signs, such as bilateral sensorineural deafness and ocular abnormalities. Different modes of transmission have been reported. X-linked transmissi… Show more
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