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Recently, homozygous truncating mutations in <jats:italic>WDR73<\/jats:italic> (<jats:italic>WD repeat domain 73<\/jats:italic>) were described in two of 31 unrelated families with Galloway\u2013Mowat syndrome which was followed by a report of two sibs in an Egyptian consanguineous family. In this report, seven affecteds from four families showing biallelic missense mutations in <jats:italic>WDR73<\/jats:italic> were identified by exome sequencing and confirmed to follow a recessive model of inheritance. Three\u2010dimensional modeling predicted conformational alterations as a result of the mutation, supporting pathogenicity. An additional 13 families with microcephaly and renal phenotype were negative for <jats:italic>WDR73<\/jats:italic> mutations. Missense mutations in the <jats:italic>WDR73<\/jats:italic> gene are reported for the first time in Galloway\u2013Mowat syndrome. A detailed phenotypic comparison of all reported <jats:italic>WDR73<\/jats:italic>\u2010linked Galloway\u2013Mowat syndrome patients with <jats:italic>WDR73<\/jats:italic> negative patients showed that <jats:italic>WDR73<\/jats:italic> mutations are limited to those with classical Galloway\u2013Mowat syndrome features, in addition to cerebellar atrophy, thin corpus callosum, brain stem hypoplasia, occasional coarse face, late\u2010onset and mostly slow progressive nephrotic syndrome, and frequent epilepsy. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37533","type":"journal-article","created":{"date-parts":[[2016,1,6]],"date-time":"2016-01-06T03:56:43Z","timestamp":1452052603000},"page":"992-998","source":"Crossref","is-referenced-by-count":39,"title":["Extending the mutation spectrum for Galloway\u2013Mowat syndrome to include homozygous missense mutations in the WDR73 gene"],"prefix":"10.1002","volume":"170","author":[{"given":"Rasim 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