PT  - JOURNAL ARTICLE
AU  - Kitagawa, K
AU  - Nakanishi, K
AU  - Iijima, K
AU  - Nishio, H
AU  - Sado, Y
AU  - Sano, K
AU  - Nakamura, H
AU  - Yoshikawa, N
TI  - Mutation in alpha 5(IV) collagen chain gene in nonfamilial hematuria.
DP  - 1995 Aug 01
TA  - Journal of the American Society of Nephrology
PG  - 264--268
VI  - 6
IP  - 2
4099  - http://jasn.asnjournals.org/content/6/2/264.short
4100  - http://jasn.asnjournals.org/content/6/2/264.full
SO  - J. Am. Soc. Nephrol.1995 Aug 01; 6
AB  - Alport syndrome is an inherited disorder characterized by progressive nephritis with ultrastructural basket-weave changes of the glomerular basement membrane and neurosensory deafness. Mutations in the COL4A5 gene encoding the Type IV collagen alpha 5 chain have been reported to occur in patients with X-linked Alport syndrome. A girl with hematuric nephritis, characteristic basket-weave glomerular basement membrane changes, and abnormal expression of the Type IV collagen alpha 5 chain immunohistochemically, but no family history of nephritis, was identified. Mutation detection enhancement gel electrophoresis of the polymerase chain reaction-amplified exons of COL4A5 from this patient revealed a sequence variant in the exon 50 region. Sequence analysis of her polymerase chain reaction product demonstrated a single-base (C; nucleotide 4728 from the 5' end) deletion in exon 50. This novel mutation alters the reading frame and introduces a translation stop codon that would be expected to result in a noncollagenous domain with only 209, instead of the normal 229, amino acid residues. Gene tracking with restriction enzyme AfIIII demonstrated that her mother was normal. These findings represent a new mutation of the X-linked Alport syndrome in this patient and demonstrate that a COL4A5 gene mutation causes the abnormal expression of Type IV collagen alpha 5 chain protein.