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

Cited 8 time in Web of Science Cited 9 time in Scopus
Authors
Hyun, Hye Sun; Kim, Seong Heon; Park, Eujin; Cho, Myung Hyun; Kang, Hee Gyung; Lee, Hyun Soon; Miyake, Noriko; Matsumoto, Naomichi; Tsukaguchi, Hiroyasu; Cheong, Hae Il
Issue Date
2018-07-27
Publisher
BioMed Central
Citation
BMC Medical Genetics, 19(1):131
Keywords
Galloway–Mowat syndromeKEOPS complexTP53RK mutation
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 (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.
ISSN
1471-2350
Language
English
URI
https://hdl.handle.net/10371/143521
DOI
https://doi.org/10.1186/s12881-018-0649-y
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College of Medicine/School of Medicine (의과대학/대학원)Pediatrics (소아과학전공)Journal Papers (저널논문_소아과학전공)
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