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Background: To assess the relationship between MOV10 rs2932538 polymorphism and susceptibility to preeclampsia (PE) in the Chinese Han population and to investigate whether the placental expression of MOV10 have association with PE. Methods: We enrolled 1021 pregnant women with PE and 1594 normotensive pregnant women to analyze genotyping of MOV10 rs2932538. Clinical data and related test results of all subjects were collected and analyzed. For volunteers providing placentas, real‐time PCR, Western blot, and immunohistochemistry were applied to assess the expression level of MOV10. Results: There was significant statistical difference between preeclamptic patients and healthy subjects in genotype distributions and alleles. The frequencies of genotypes TT+CT were significantly associated with the increased risk of preeclampsia. Besides, T alleles were found to be related to a higher risk of PE. Significant statistical difference was also observed on distributions of genotype in PE without/with severe features group compared or early onset/late onset versus controls. The placental expression of MOV10 was lower in preeclamptic women, however, no relationship was found between MOV10 expression level and MOV10 rs2932538 genotypes. Conclusion: This study suggests that MOV10 rs2932538 polymorphism may be associated with PE susceptibility in the Chinese Han population. The placental expression of MOV10 decrease in PE but have no relationship with rs2932538 polymorphism. [ABSTRACT FROM AUTHOR]

Background: Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous cutaneous disease predominantly characterized by erythroderma, generalized abnormal scaling of the whole body and a collodion membrane at birth. Numerous causative genes have been demonstrated to be responsible for ARCI including PNPLA1 which can cause ARCI type 10. The objectives of this study are to describe clinical features of three ARCI patients from two Chinese unrelated families and to identify the underlying causative mutations. Methods: Genomic DNA was extracted from peripheral venous blood obtained from the two Chinese ARCI families in Shandong province. Subsequently, targeted regions sequencing (TRS) followed by Sanger sequencing was conducted to identify and validate the likely pathogenic mutations of the ARCI families. Results: Genetic analyses revealed four novel PNPLA1 variants that are predicted to be probably to lead to ARCI in three patients of two families. Patient 1 in one family was in compound heterozygous status for c.604delC/p.Arg202Glyfs*27 and c.820dupC/p.Arg274Profs*15, whereas c.738_742delinsCCCACAGATCCTGC/ p.Gly247_Tyr248delinsProGlnIleLeuHis, and c.816dupC/p.Arg274Profs*15 were found in patient 2 and 3 of the other family. In addition, these variants cosegregate in the two pedigrees and are all within highly conserved regions of the PNPLA1 protein, which indicate that the four mutations are likely pathogenic. Conclusion: Our findings not only broaden the mutational spectrum of PNPLA1, but also contribute to establishing genotype–phenotype correlations for different forms of ARCI. [ABSTRACT FROM AUTHOR]