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Objective To investigate the genotypes of the pathogenic gene COL4A5 and the characteristics of clinical phenotypes in children with Alport syndrome (AS). Methods A retrospective analysis was performed for the genetic testing results and clinical data of 19 AS children with COL4A5 gene mutations. Results Among the 19 children with AS caused by COL4A5 gene mutations, 1 (5%) carried a new mutation of the COL4A5 gene, i.e., c.3372A >G(p.P1124=) and presented with AS coexisting with IgA vasculitis nephritis; 3 children (16%) had large fragment deletion of the COL4A5 gene, among whom 2 children (case 7 had a new mutation site of loss51-53) had gross hematuria and albuminuria at the onset, and 1 child (case 13 had a new mutation site of loss3-53) only had microscopic hematuria, while the other 15 children (79%) had common clinical phenotypes of AS, among whom 7 carried new mutations of the COL4A5 gene. Among all 19 children, 3 children (16%) who carried COL4A5 gene mutations also had COL4A4 gene mutations, and 1 child (5%) had COL4A3 gene mutations. Among these children with double gene mutations, 2 had gross hematuria and proteinuria at the onset. Conclusions This study expands the genotype and phenotype spectrums of the pathogenic gene COL4A5 for AS. Children with large fragment deletion of the COL4A5 gene or double gene mutations of COL4A5 with COL4A3 or COL4A4 tend to have more serious clinical manifestations. [ABSTRACT FROM AUTHOR]

Three dinuclear lanthanide complexes are achieved by using H2salen or H2salen/acac ligands (H2salen = N,N′-ethylenebis(salicylideneimine), acac = acetylacetonate). They are homodinuclear [Er2(salen)3] (1), [Yb2(salen)2(acac)2] (2), and heterodinuclear geometrical [ErYb(salen)2(acac)2] (3). The structures of complexes were determined by single crystal X-ray crystallographic studies and their photophysical properties were investigated. The homonuclear Yb2 complex exhibits characteristic metal-centered NIR emission. The geometric ErYb isomer exhibits ‘dual emissions’ from both erbium(iii) and ytterbium(iii) ions. There was no detectable photoluminescence in the Er2 complex, not only in solid state but also in solvent. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the genotypes of the pathogenic gene COL4A5 and the characteristics of clinical phenotypes in children with Alport syndrome (AS)., Methods: A retrospective analysis was performed for the genetic testing results and clinical data of 19 AS children with COL4A5 gene mutations., Results: Among the 19 children with AS caused by COL4A5 gene mutations, 1 (5%) carried a new mutation of the COL4A5 gene, i.e., c.3372A>G(p.P1124=) and presented with AS coexisting with IgA vasculitis nephritis; 3 children (16%) had large fragment deletion of the COL4A5 gene, among whom 2 children (case 7 had a new mutation site of loss51-53) had gross hematuria and albuminuria at the onset, and 1 child (case 13 had a new mutation site of loss3-53) only had microscopic hematuria, while the other 15 children (79%) had common clinical phenotypes of AS, among whom 7 carried new mutations of the COL4A5 gene. Among all 19 children, 3 children (16%) who carried COL4A5 gene mutations also had COL4A4 gene mutations, and 1 child (5%) had COL4A3 gene mutations. Among these children with double gene mutations, 2 had gross hematuria and proteinuria at the onset., Conclusions: This study expands the genotype and phenotype spectrums of the pathogenic gene COL4A5 for AS. Children with large fragment deletion of the COL4A5 gene or double gene mutations of COL4A5 with COL4A3 or COL4A4 tend to have more serious clinical manifestations.

Congenital adrenal hyperplasia (CAH) is an autosomal recessive hereditary disease, and the 11β- hydroxylase deficiency is the second most common syndrome in different types of CAH. The occurrence of 11β- hydroxylase deficiency is related to the mutation of CYP11B gene on human autosome 8. In this report, we detected the gene mutation sites of a 14-year-old patient with 11β-hydroxylase deficiency by whole exon sequencing (WES), verified the suspected mutation by Sanger sequencing, and analyzed its characteristics. Gene sequencing revealed that homozygous missense mutation of c.1226C>T appeared on the 8th exon of CYP11B1 gene, which resulted in the mutation of the encoding protein Ser409 to phenylalanine (p. Ser409Phe), affecting the binding of heme and enzyme and resulting in the loss of CYP11B1 enzyme activity and a series of clinical symptoms. This mutation has not been reported at home and abroad. This case enriches the variation spectrum of CYP11B1 gene and provides clinical data and genetic resources for further research on the pathogenesis of 11β-hydroxylase deficiency.