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A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report

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dc.contributor.authorHyun, Hye Sun-
dc.contributor.authorKim, Seong Heon-
dc.contributor.authorPark, Eujin-
dc.contributor.authorCho, Myung Hyun-
dc.contributor.authorKang, Hee Gyung-
dc.contributor.authorLee, Hyun Soon-
dc.contributor.authorMiyake, Noriko-
dc.contributor.authorMatsumoto, Naomichi-
dc.contributor.authorTsukaguchi, Hiroyasu-
dc.contributor.authorCheong, Hae Il-
dc.date.accessioned2018-11-14T00:24:14Z-
dc.date.available2018-11-14T09:34:10Z-
dc.date.issued2018-07-27-
dc.identifier.citationBMC Medical Genetics, 19(1):131ko_KR
dc.identifier.issn1471-2350-
dc.identifier.urihttps://hdl.handle.net/10371/143521-
dc.description.abstractBackground
Galloway–Mowat syndrome (GAMOS) is a rare hereditary renal–neurological disease characterized by early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. Recently, novel causative mutations for this disease have been identified in the genes encoding the four KEOPS subunits: OSGEP, TP53RK, TPRKB, and LAGE3.

Case presentation
We detected a novel homozygous TP53RK mutation (NM_033550, c.194A > T, p.Lys65Met) using whole exome sequencing in a familial case of GAMOS with three affected siblings. All three patients manifested similar phenotypes, including very early-onset nephrotic syndrome (8 days, 1 day, and 1 day after birth, respectively), microcephaly, dysmorphic faces, and early fatality (10 months, 21 days, and 25 days of age, respectively). One patient also showed hiatal hernia with gastric volvulus. Renal biopsy performed on one patient revealed focal segmental glomerulosclerosis with severe tubulo-interstitial changes.

Conclusion
We report on a familial case of GAMOS with three affected siblings carrying a novel homozygous TP53RK mutation. To our knowledge, this is only the second report on GAMOS in association with a TP53RK mutation.
ko_KR
dc.description.sponsorshipThis study was supported by a grant (HI12C0014) of the Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea.ko_KR
dc.language.isoenko_KR
dc.publisherBioMed Centralko_KR
dc.subjectGalloway–Mowat syndromeko_KR
dc.subjectKEOPS complexko_KR
dc.subjectTP53RK mutationko_KR
dc.titleA familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case reportko_KR
dc.typeArticleko_KR
dc.contributor.AlternativeAuthor현혜선-
dc.contributor.AlternativeAuthor김성헌-
dc.contributor.AlternativeAuthor박의진-
dc.contributor.AlternativeAuthor조명현-
dc.contributor.AlternativeAuthor강희경-
dc.contributor.AlternativeAuthor이현순-
dc.contributor.AlternativeAuthor정해일-
dc.identifier.doi10.1186/s12881-018-0649-y-
dc.language.rfc3066en-
dc.rights.holderThe Author(s).-
dc.date.updated2018-07-29T03:38:52Z-
Appears in Collections:
College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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