期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 62, 期 9, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2018.10.002
关键词
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资金
- Tunisian Ministry of Higher Education and Scientific Research (Laboratoire de genetique Humaine, Faculte de Medecine de Tunis) [LR99ES10]
- Ministry of Health (Service des Maladies Congenitales et Hereditaires, Hopital Charles Nicolle de Tunis)
Galloway-Mowat syndrome (GAMOS [MIM 251300]) is a rare autosomal recessive disorder that manifests as a combination of nephrotic syndrome, brain abnormalities and developmental delay. It is a clinically and genetically heterogeneous disease. The WDR73 variations are associated with GAMOS1. Here we report two consanguineous families affected by GAMOS1. In the first family, three sisters are affected and in the second family, only one index case is identified. They all show a nephrotic syndrome, a neurological involvement and a collapsing glomerulopathy. The analysis of mutations of WDR73 revealed a new homozygous missense mutation NM_032856.3 c.293T > C; p.(Leu98Pro) in two patients from the first family, and a new homozygous missense mutation NM_032856.3: c.767G > A; p. (Arg256Gln) in the second one. This study extended the clinical and molecular spectrum of GAMOS1 with other cases associated with collapsing glomerulopathy and two novel WDR73 variations that are most likely pathogenic.
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