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KMID : 1189120200170020097
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대한의학유전학회지
2020 Volume.17 No. 2 p.97 ~ p.101
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A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene
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Kim Ha-Min
Lee Hyun-Joo
Lee Young-Mock
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Abstract
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The combination of central nervous system abnormalities and renal impairment is a notable characteristic of GallowayMowat syndrome (GAMOS), a disease which often accompanies microcephaly, developmental delay, and nephrotic syndrome. Many subtypes exist having various phenotypes and genotypes, and many genetic causes are still being identified. An 18-month-old boy first visited our clinic for seizure, delayed development, and microcephaly. During follow-up visits he developed proteinuria and nephrotic syndrome at the age of 6. Nephrotic syndrome became refractory to treatment. These phenotypes were suggestive of GAMOS. Next generation sequencing was performed for genetic analysis and revealed novel compound heterozygous variants in the WDR4 gene: c.494G>A (p.Arg165Gln) and c.540C>G (p.Ile180Met). This is the first case in Korea of GAMOS involving the WDR4 gene.
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KEYWORD
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Galloway-Mowat syndrome, Microcephaly, Growth retardation, Cerebellar diseases, Nephrotic syndrome, WDR4
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