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Open Access 01-12-2018 | Case report

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

Authors: Hye Sun Hyun, Seong Heon Kim, Eujin Park, Myung Hyun Cho, Hee Gyung Kang, Hyun Soon Lee, Noriko Miyake, Naomichi Matsumoto, Hiroyasu Tsukaguchi, Hae Il Cheong

Published in: BMC Medical Genetics | Issue 1/2018

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.

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Title: A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report
Authors: Hye Sun Hyun
Seong Heon Kim
Eujin Park
Myung Hyun Cho
Hee Gyung Kang
Hyun Soon Lee
Noriko Miyake
Naomichi Matsumoto
Hiroyasu Tsukaguchi
Hae Il Cheong
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2018
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/s12881-018-0649-y

At a glance: The STEP trials

Springer Medicine

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

Abstract

Background

Case presentation

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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