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Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23
Pediatric Nephrology, 05/19/09

Hoischen A et al. - To investigate whether submicroscopic chromosomal deletions or duplications can be causative of unclear syndromic nephropathies, the authors analyzed ten patients with congenital abnormalities of the kidney and urinary tract or glomerulopathies combined with important extrarenal anomalies by whole-genome array-based comparative genomic hybridization. The microdeletion contains the X-linked Alport syndrome gene COL4A5, the MR genes FACL4 and PAK3, and parts of the X-chromosomal lissencephaly gene DCX associated with double cortex formation in girls, MR, and epilepsy. The phenotype in the patient combines features of the Alport–MR contiguous gene syndrome with lissencephaly.

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