Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.

doi:10.1002/ajmg.a.40489

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Article

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome.

American journal of medical genetics. Part A - 1 Nov 2018

Braun Daniela A, Shril Shirlee, Sinha Aditi, Schneider Ronen, Tan Weizhen, Ashraf Shazia, Hermle Tobias, Jobst-Schwan Tilman, Widmeier Eugen, Majmundar Amar J, Daga Ankana, Warejko Jillian K, Nakayama Makiko, Schapiro David, Chen Jing, Airik Merlin, Rao Jia, Schmidt Johanna Magdalena, Hoogstraten Charlotte A, Hugo Hannah, Meena Jitendra, Lek Monkol, Laricchia Kristen M, Bagga Arvind, Hildebrandt Friedhelm

Abstract excerpt

Galloway-Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease, manifesting with proteinuria. To identify additional monogenic disease causes, we here performed whole exome sequencing (WES), linkage analysis, and homozygosity mapping in three affected siblings of an Indian family with GAMOS. Applying established...

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Identifiers

PMID: 30079490
DOI: 10.1002/ajmg.a.40489
PMCID: PMC6289609

Genes

WDR4

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