Galloway-Mowat syndrome in Taiwan: <Emphasis Type="Italic">OSGEP</Emphasis> mutation and unique clinical phenotype |
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Authors: | Pei-Yi Lin Min-Hua Tseng Martin Zenker Jia Rao Friedhelm Hildebrandt Shih-Hua Lin Chun-Chen Lin Jui-Hsing Chang Chyong-Hsin Hsu Ming-Dar Lee Shuan-Pei Lin " target="_blank">Jeng-Daw Tsai |
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Institution: | 1.Department of Pediatrics,MacKay Children’s Hospital,Taipei,Taiwan;2.Department of Pediatrics, Shuang Ho Hospital,Taipei Medical University,New Taipei City,Taiwan;3.Graduate Institute of Biomedical Informatics, College of Medicine Science and Technology,Taipei Medical University,Taipei,Taiwan;4.Division of Pediatric Nephrology, Department of Pediatrics, Chang Gung Memorial Hospital,Chang Gung University,Taoyuan,Taiwan;5.Institute of Human Genetics,University Hospital Magdeburg,Magdeburg,Germany;6.Department of Medicine,Boston Children’s Hospital, Harvard Medical School,Boston,USA;7.Division of Nephrology, Department of Medicine,Tri-Service General Hospital, National Defense Medical Center,Taipei,Taiwan;8.Department of Medicine,MacKay Medical College,New Taipei City,Taiwan;9.MacKay Junior College of Medicine, Nursing and Management,Taipei,Taiwan;10.Department of Pediatrics,Hsinchu MacKay Memorial Hospital,Hsinchu City,Taiwan;11.Department of Pediatric Genetics,MacKay Children’s Hospital,Taipei,Taiwan;12.Department of Pediatrics,Taipei Medical University Hospital,Taipei,Taiwan;13.Department of Pediatrics, School of Medicine, College of Medicine,Taipei Medical University,Taipei,Taiwan |
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Abstract: | BackgroundGalloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomalies. Given its clinical heterogeneity, GAMOS is believed to be a genetically heterogenous group of disorders. Recently, it has been reported that mutations in KEOPS-encoding genes, including the OSGEP gene, were responsible for GAMOS.ResultsOverall, 6 patients from 5 different Taiwanese families were included in our study; the patients had an identical OSGEP gene mutation (c.740G?>?A transition) and all exhibited a uniform clinical phenotype with early-onset nephrotic syndrome, craniofacial and skeletal dysmorphism, primary microcephaly with pachygyria, and death before 2?years of age. We reviewed their clinical manifestations, the prenatal and postnatal presentations and ultrasound findings, results of imaging studies, associated anomalies, and outcome on follow-up. All individuals were found to have an “aged face” comprising peculiar facial dysmorphisms. Arachnodactyly or camptodactyly were noted in all patients. Neurological findings consisted of microcephaly, hypotonia, developmental delay, and seizures. Brain imaging studies all showed pachygyria and hypomyelination. All patients developed early-onset nephrotic syndrome. The proteinuria was steroid-resistant and eventually resulted in renal function impairment. Prenatal ultrasound findings included microcephaly, intrauterine growth restriction, and oligohydramnios. Fetal MRI in 2 patients confirmed the gyral and myelin abnormalities.ConclusionsOur study suggests that a careful review of the facial features can provide useful clues for an early and accurate diagnosis. Prenatal ultrasound findings, fetal MRI, genetic counseling, and mutation analysis may be useful for an early prenatal diagnosis. |
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