The association of renin-angiotensinogen system genes polymorphisms and idiopathic recurrent pregnancy loss.

The most common complication of pregnancy is idiopathic recurrent pregnancy loss (RPL). To identify the contribution of gene polymorphisms to this condition, we evaluated the association between RPL and the angiotensinogen (), angiotensin receptor 1 () and Angiotensinogen converting enzyme (ACE). In this case-control study, the frequency of (rs4762 and rs699), (rs5186) and insertion/deletion (rs4340) polymorphisms in 202 idiopathic RPL women was compared with 210 women with no history of abortion, using tetra-primer ARMS-PCR.

Novel FKBP10 Mutation in a Patient with Osteogenesis Imperfecta Type XI.

Osteogenesis imperfecta (OI) is a set of clinically and genetically heterogeneous disorders with autosomal dominant, recessive and X-linked inheritance patterns. The aim of this study was to describe a novel genetic abnormality in a case of OI type XI with mild joint contractures, kyphoscoliosis, muscular atrophy, progressively deforming and multiple bone fractures in a consanguineous Iranian family. Based on the phenotype, investigation of two candidate genes, CRTAP (OI type VII) and FKBP10 (OI type XI) detected a novel homozygous frameshift mutation in the FKBP10 gene.

Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.

Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A, is an autosomal recessive disorder characterized by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), which causes major skeletal and connective tissue abnormalities and affects multiple organ systems. In this study, one MPS IVA patient with a severe form from consanguine large Iranian family has been investigated. To find a mutation, all of the 14 exons and intron-exon junctions of GALNS gene were sequenced.