Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

Autor:	Jia Rao, Jeng-Daw Tsai, Ming-Dar Lee, Pei-Yi Lin, Min-Hua Tseng, Jui-Hsing Chang, Shih-Hua Lin, Shuan-Pei Lin, Chun-Chen Lin, Martin Zenker, Friedhelm Hildebrandt, Chyong-Hsin Hsu
Rok vydání:	2018
Předmět:	0301 basic medicine Male Pediatrics medicine.medical_specialty Microcephaly Nephrotic Syndrome Prenatal findings Genetic counseling Taiwan lcsh:Medicine Prenatal diagnosis Gene mutation OSGEP Camptodactyly 03 medical and health sciences Arachnodactyly Prenatal Diagnosis Medicine Humans Pharmacology (medical) Genetics (clinical) Retrospective Studies KEOPS business.industry Pachygyria Research lcsh:R Metalloendopeptidases General Medicine medicine.disease Hypotonia 3. Good health Galloway Mowat syndrome 030104 developmental biology Hernia Hiatal Mutation Nephrosis Female medicine.symptom business Lissencephaly Hypomyelination Galloway-Mowat syndrome
Zdroj:	Orphanet Journal of Rare Diseases Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
ISSN:	1750-1172
Popis:	Background Galloway-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. Results Overall, 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. Conclusions Our 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::919cbcb04e9ff821416805ff04194f85 https://pubmed.ncbi.nlm.nih.gov/30558655 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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