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A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Hyun, Hye Sun | - |
dc.contributor.author | Kim, Seong Heon | - |
dc.contributor.author | Park, Eujin | - |
dc.contributor.author | Cho, Myung Hyun | - |
dc.contributor.author | Kang, Hee Gyung | - |
dc.contributor.author | Lee, Hyun Soon | - |
dc.contributor.author | Miyake, Noriko | - |
dc.contributor.author | Matsumoto, Naomichi | - |
dc.contributor.author | Tsukaguchi, Hiroyasu | - |
dc.contributor.author | Cheong, Hae Il | - |
dc.date.accessioned | 2018-11-14T00:24:14Z | - |
dc.date.available | 2018-11-14T09:34:10Z | - |
dc.date.issued | 2018-07-27 | - |
dc.identifier.citation | BMC Medical Genetics, 19(1):131 | ko_KR |
dc.identifier.issn | 1471-2350 | - |
dc.identifier.uri | https://hdl.handle.net/10371/143521 | - |
dc.description.abstract | Background
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 (8days, 1day, and 1day after birth, respectively), microcephaly, dysmorphic faces, and early fatality (10months, 21days, and 25days 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.sponsorship | This 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.iso | en | ko_KR |
dc.publisher | BioMed Central | ko_KR |
dc.subject | Galloway–Mowat syndrome | ko_KR |
dc.subject | KEOPS complex | ko_KR |
dc.subject | TP53RK mutation | ko_KR |
dc.title | A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 현혜선 | - |
dc.contributor.AlternativeAuthor | 김성헌 | - |
dc.contributor.AlternativeAuthor | 박의진 | - |
dc.contributor.AlternativeAuthor | 조명현 | - |
dc.contributor.AlternativeAuthor | 강희경 | - |
dc.contributor.AlternativeAuthor | 이현순 | - |
dc.contributor.AlternativeAuthor | 정해일 | - |
dc.identifier.doi | 10.1186/s12881-018-0649-y | - |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s). | - |
dc.date.updated | 2018-07-29T03:38:52Z | - |
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