Publication Date:
2012-06-13
Description:
Background: Natriuretic peptides (NPs) are peptide hormones that exert their biological actions by bindingto three types of cell surface natriuretic peptide receptors (NPRs). The receptor NPR-Bbinding C-type natriuretic peptide (CNP) acts locally as a paracrine and/or autocrine regulatorin a wide variety of tissues. Mutations in the gene NPR2 have been shown to causeacromesomelic dysplasia-type Maroteaux (AMDM), an autosomal recessive skeletaldisproportionate dwarfism disorder in humans. Methods: In the study, presented here, genotyping of six consanguineous families of Pakistani originwith AMDM was carried out using polymorphic microsatellite markers, which are closelylinked to the gene NPR2 on chromosome 9p21-p12. To screen for mutations in the geneNPR2, all of its coding exons and splice junction sites were PCR amplified from genomicDNA of affected and unaffected individuals of the families and sequenced. Results: Sequence analysis of the gene NPR2 identified a novel missence mutation (p.T907M) in fivefamilies, and a splice donor site mutation c.2986 + 2 T 〉 G in the other family. Conclusion: We have described two novel mutations in the gene NPR2. The presence of the samemutation (p.T907M) and haplotype in five families (A, B, C, D, E) is suggestive of a foundereffect.
Electronic ISSN:
1471-2350
Topics:
Biology
,
Medicine
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