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A case of Galloway-Mowat syndrome with novel compound heterozygous variants in the WDR4 gene

Authors
 Hamin Kim  ;  Hyunjoo Lee  ;  Young-Mock Lee 
Citation
 Journal of Genetic Medicine (대한의학유전학회지), Vol.17(2) : 97-101, 2020-12 
Journal Title
Journal of Genetic Medicine(대한의학유전학회지)
ISSN
 1226-1769 
Issue Date
2020-12
Keywords
Galloway-Mowat syndrome ; Microcephaly ; Growth retardation ; Cerebellar diseases ; Nephrotic syndrome ; WDR4
Abstract
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.
Files in This Item:
T202007151.pdf Download
DOI
10.5734/JGM.2020.17.2.97
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Hamin(김하민)
Lee, Young Mock(이영목) ORCID logo https://orcid.org/0000-0002-5838-249X
Lee, Hyun Joo(이현주) ORCID logo https://orcid.org/0000-0002-1432-0449
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/183842
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