{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T08:49:05Z","timestamp":1790153345415,"version":"4.0.1"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T00:00:00Z","timestamp":1386201600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Over one hundred <jats:italic>VPS13B<\/jats:italic> mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive chorioretinal dystrophy, and neutropenia. We report on a patient carrying two <jats:italic>VPS13B<\/jats:italic> splicing mutations with an atypical phenotype that included microcephaly, retinopathy, and congenital neutropenia, but neither obesity nor ID. RNA analysis of the IVS34+2T_+3AinsT mutation did not reveal any abnormal splice fragments but mRNA quantification showed a significant decrease in <jats:italic>VPS13B<\/jats:italic> expression. RNA sequencing analysis up\u2010 and downstream from the IVS57+2T&gt;C mutation showed abnormal splice isoforms. In contrast to patients with typical CS, who express only abnormal VPS13B mRNA and truncated protein, a dose effect of residual normal VPS13B protein possibly explains the incomplete phenotype in the patient. This observation emphasizes that <jats:italic>VPS13B<\/jats:italic> analysis should be performed in cases of congenital neutropenia associated with retinopathy, even in the absence of ID, therefore extending the <jats:italic>VPS13B<\/jats:italic> phenotype spectrum. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36300","type":"journal-article","created":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T20:37:23Z","timestamp":1386275843000},"page":"522-527","source":"Crossref","is-referenced-by-count":17,"title":["Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to <i>VPS<\/i><i>13<\/i><i>B<\/i> mutations"],"prefix":"10.1002","volume":"164","author":[{"given":"Lucie","family":"Gueneau","sequence":"first","affiliation":[{"name":"EA 4271 GAD \u00ab G\u00e9n\u00e9tique et Anomalies du D\u00e9veloppement \u00bb IFR 100 \u2010 Sante STIC Universit\u00e9 de Bourgogne Dijon 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