OdysseusBot: Новая страница: «WD repeat-containing protein 73 [HSPC264] ==Publications== {{medline-entry |title=Novel homozygous OSGEP gene pathogenic variants in two unrelated patients...»

2021-04-29T19:36:20Z

Новая страница: «WD repeat-containing protein 73 [HSPC264] ==Publications== {{medline-entry |title=Novel homozygous OSGEP gene pathogenic variants in two unrelated patients...»

Новая страница

WD repeat-containing protein 73 [HSPC264]

==Publications==

{{medline-entry
|title=Novel homozygous [[OSGEP]] gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/30975089
|abstract=Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies. [[WDR73]] pathogenic variants were described as the first genetic cause of GAMOS and, very recently, four novel causative genes, [[OSGEP]], [[LAGE3]], [[TP53RK]], and [[TPRKB]], have been identified. We present the clinical and genetic characteristics of two unrelated infants with clinical suspicion of GAMOS who were born from consanguineous parents. Both patients showed a similar clinical presentation, with early-onset nephrotic syndrome, microcephaly, brain atrophy, developmental delay, axial hypotonia, and early fatality. We identified two novel likely disease-causing variants in the [[OSGEP]] gene. These two cases, in conjunction with the findings of a literature review, indicate that [[OSGEP]] pathogenic variants are associated with an earlier onset of nephrotic syndrome and shorter life expectancy than [[WDR73]] pathogenic variants. Our findings expand the spectrum of pathogenic variants in the [[OSGEP]] gene and, taken in conjunction with the results of the literature review, suggest that the [[OSGEP]] gene should be considered the main known monogenic cause of GAMOS. Early genetic diagnosis of GAMOS is of paramount importance for genetic counseling and family planning.
|mesh-terms=* Atrophy
* Biopsy
* Brain
* Clinical Deterioration
* Fatal Outcome
* Female
* Genetic Predisposition to Disease
* Hernia, Hiatal
* Homozygote
* Humans
* Infant
* Kidney
* Life Expectancy
* Male
* Metalloendopeptidases
* Microcephaly
* Nephrosis
* Nephrotic Syndrome
|keywords=* Case report
* Galloway-Mowat syndrome
* Genetic testing
* KEOPS complex
* Nephrotic syndrome
* OSGEP
|full-text-url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6458604
}}

WDR73 - История изменений

OdysseusBot: Новая страница: «WD repeat-containing protein 73 [HSPC264] ==Publications== {{medline-entry |title=Novel homozygous OSGEP gene pathogenic variants in two unrelated patients...»