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European Journal of Pediatrics

Erschienen in:

01.03.2012 | Original Paper

Mutation screening of BMP4 and Id2 genes in Chinese patients with congenital ureteropelvic junction obstruction

verfasst von: Jun Li He, Jun Hong Liu, Feng Liu, Ping Tan, Tao Lin, Xu Liang Li

Erschienen in: European Journal of Pediatrics | Ausgabe 3/2012

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Abstract

Ureteropelvic junction obstruction (UPJO) is the most common congenital anomaly of the urinary tract. Evidence has shown that BMP4 and Id2 play crucial roles in nephrogenesis, alterations of which may cause ureteral developmental anomalies. Here, we directly sequenced the coding sequences in BMP4 and Id2 genes of 108 unrelated Chinese patients with ureteropelvic junction stenosis. One missense mutation c.485G> A (p.R162Q) in BMP4 and two synonymous mutations (c.1167T> C in BMP4 and c.108A> G in Id2) were detected in three cases. None of these variations were present in the 150 normal controls. Comparative amino acid sequence alignments of BMP4 in humans and other vertebrate orthologs show that p.R162 located to a highly conserved amino acid residue. Moreover, computational analysis predicted that R162Q probably infect the function of BMP4 protein. Conclusion: The mutation c.485G> A in BMP4 might be one of the causes of human UPJO. Further functional studies are required to validate the association between this variation and UPJO. Otherwise, Id2 mutations do not seem to be involved in this disease.

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Titel: Mutation screening of BMP4 and Id2 genes in Chinese patients with congenital ureteropelvic junction obstruction
verfasst von: Jun Li He
Jun Hong Liu
Feng Liu
Ping Tan
Tao Lin
Xu Liang Li
Publikationsdatum: 01.03.2012
Verlag: Springer-Verlag
Erschienen in: European Journal of Pediatrics / Ausgabe 3/2012
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-011-1561-z

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