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Article

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.

Journal of medical genetics - 1 Jun 2017

Rosti Rasim Ozgur, Sotak Bethany N, Bielas Stephanie L, Bhat Gifty, Silhavy Jennifer L, Aslanger Ayca Dilruba, Altunoglu Umut, Bilge Ilmay, Tasdemir Mehmet, Yzaguirrem Amanda D, Musaev Damir, Infante Sofia, Thuong Whitney, Marin-Valencia Isaac, Nelson Stanley F, Kayserili Hulya, Gleeson Joseph G

Abstract excerpt

BACKGROUND: Microcephaly with nephrotic syndrome is a rare co-occurrence, constituting the Galloway-Mowat syndrome (GAMOS), caused by mutations in WDR73 (OMIM: 616144). However, not all patients harbour demonstrable WDR73 deleterious variants, suggesting that there are other yet unidentified factors contributing to GAMOS aetiology. METHODS: Autozygosity mapping and candidate analysis was used to identify...

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Identifiers

PMID: 28280135
DOI: 10.1136/jmedgenet-2016-104237

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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