| http://purl.uniprot.org/citations/37354892 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37354892 | http://www.w3.org/2000/01/rdf-schema#comment | "Sengers syndrome (OMIM# 212350) is a rare autosomal recessive mitochondrial disease caused by biallelic pathogenic variants in the AGK gene, which encodes the acylglycerol kinase enzyme. The syndrome was originally defined as a "triad" of hypertrophic cardiomyopathy, cataracts, and lactic acidosis, with or without skeletal myopathy. The clinical manifestation of Sengers Syndrome exhibits substantial heterogeneity, with mild and severe/infantile forms reported. Further, biallelic AGK pathogenic variants have also been identified in a familial case of non-syndromic isolated cataract (OMIM# 614691), expanding our understanding of the gene's influence beyond the originally defined syndrome. In this study, we provide a systematic review of molecularly confirmed cases with biallelic AGK pathogenic variants (Supplementary Table 1). Our analysis demonstrates the variable expressivity and penetrance of the central features of Sengers syndrome, as follows: cataracts (98%), cardiomyopathy (88%), lactic acidosis (adjusted 88%), and skeletal myopathy (adjusted 74%) (Table 1). Furthermore, we investigate the associations between genotype, biochemical profiles, and clinical outcomes, with a particular focus on infantile mortality. Our findings reveal that patients carrying homozygous nonsense variants have a higher incidence of infant mortality and a lower median age of death (p = 0.005 and p = 0.02, Table 2a). However, the location of pathogenic variants within the AGK domains was not significantly associated with infantile death (p = 0.62, Table 2b). Additionally, we observe a borderline association between the absence of lactic acidosis and longer survival (p = 0.053, Table 2c). Overall, our systematic review sheds light on the diverse clinical manifestations of AGK-related disorders and highlights potential factors that influence its prognosis. These provide important implications for the diagnosis, treatment, and counseling of affected individuals and families."xsd:string |
| http://purl.uniprot.org/citations/37354892 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ymgme.2023.107626"xsd:string |
| http://purl.uniprot.org/citations/37354892 | http://purl.uniprot.org/core/author | "Wu C.W."xsd:string |
| http://purl.uniprot.org/citations/37354892 | http://purl.uniprot.org/core/author | "Roberts A.E."xsd:string |
| http://purl.uniprot.org/citations/37354892 | http://purl.uniprot.org/core/author | "Harris D.J."xsd:string |
| http://purl.uniprot.org/citations/37354892 | http://purl.uniprot.org/core/author | "Bodamer O."xsd:string |
| http://purl.uniprot.org/citations/37354892 | http://purl.uniprot.org/core/author | "Sacharow S."xsd:string |
| http://purl.uniprot.org/citations/37354892 | http://purl.uniprot.org/core/author | "Smoot L."xsd:string |
| http://purl.uniprot.org/citations/37354892 | http://purl.uniprot.org/core/author | "Caha M."xsd:string |
| http://purl.uniprot.org/citations/37354892 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37354892 | http://purl.uniprot.org/core/name | "Mol Genet Metab"xsd:string |
| http://purl.uniprot.org/citations/37354892 | http://purl.uniprot.org/core/pages | "107626"xsd:string |
| http://purl.uniprot.org/citations/37354892 | http://purl.uniprot.org/core/title | "Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases."xsd:string |
| http://purl.uniprot.org/citations/37354892 | http://purl.uniprot.org/core/volume | "139"xsd:string |
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