Ontology highlight
ABSTRACT:
SUBMITTER: Braun DA
PROVIDER: S-EPMC6289609 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Braun Daniela A DA Shril Shirlee S Sinha Aditi A Schneider Ronen R Tan Weizhen W Ashraf Shazia S Hermle Tobias T Jobst-Schwan Tilman T Widmeier Eugen E Majmundar Amar J AJ Daga Ankana A Warejko Jillian K JK Nakayama Makiko M Schapiro David D Chen Jing J Airik Merlin M Rao Jia J Schmidt Johanna Magdalena JM Hoogstraten Charlotte A CA Hugo Hannah H Meena Jitendra J Lek Monkol M Laricchia Kristen M KM Bagga Arvind A Hildebrandt Friedhelm F
American journal of medical genetics. Part A 20180806 11
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 criteria for variant filtering, we identify a novel homozygous splice site mutation in the ...[more]