{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:19:26Z","timestamp":1791317966596,"version":"4.3.1"},"reference-count":29,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,8,11]],"date-time":"2016-08-11T00:00:00Z","timestamp":1470873600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Failure to thrive arises as a complication of a heterogeneous group of disorders. We describe two female siblings with spastic paraplegia and global developmental delay but also, atypically for the HSPs, poor weight gain classified as failure to thrive. After extensive clinical and biochemical investigations failed to identify the etiology, we used exome sequencing to identify biallelic <jats:italic>UNC80<\/jats:italic> mutations (NM_032504.1:c.[3983\u20103_3994delinsA];[2431C&gt;T]. The paternally inherited NM_032504.1:c.3983\u20103_3994delinsA is predicted to encode p.Ser1328Argfs*19 and the maternally inherited NM_032504.1:c.2431C&gt;T is predicted to encode p.Arg811*. No UNC80 mRNA was detectable in patient cultured skin fibroblasts, suggesting UNC80 loss of function by nonsense mediated mRNA decay. Further supporting the <jats:italic>UNC80<\/jats:italic> mutations as causative of these siblings\u2019 disorder, biallelic mutations in <jats:italic>UNC80<\/jats:italic> have recently been described among individuals with an overlapping phenotype. This report expands the disease spectrum associated with <jats:italic>UNC80<\/jats:italic> mutations. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37929","type":"journal-article","created":{"date-parts":[[2016,8,11]],"date-time":"2016-08-11T13:22:41Z","timestamp":1470921761000},"page":"3106-3114","source":"Crossref","is-referenced-by-count":22,"title":["Phenotypic evolution of UNC80 loss of function"],"prefix":"10.1002","volume":"170","author":[{"given":"Elise","family":"Valkanas","sequence":"first","affiliation":[{"name":"NIH Undiagnosed Diseases Program Common Fund Office of the Director NIH National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Schaffer","sequence":"additional","affiliation":[{"name":"NIH Undiagnosed Diseases Program Common Fund Office of the Director NIH National Institutes of Health Bethesda 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