{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T10:09:37Z","timestamp":1790762977555,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,12,12]],"date-time":"2016-12-12T00:00:00Z","timestamp":1481500800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,5]]},"abstract":"Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature but also other organs\/tissues causing additional clinical abnormalities. A 10\u2010year old boy was evaluated for impaired postnatal linear growth (height 113.3\u2009cm, \u22124.6 SDS<\/jats:styled-content>), a bone age that was delayed by 5 years, dysmorphic facies, cognitive impairment, and central nervous system anomalies. His younger brother, presented only with growth failure at 10 months of age. Exome sequencing identified compound heterozygous variants in the gene encoding RNA<\/jats:styled-content> polymerase III<\/jats:styled-content> transcription initiation factor 90 kDa<\/jats:styled-content> subunit (BRF1<\/jats:styled-content><\/jats:italic>) in both affected siblings: a missense mutation (c.875 C\u2009>\u2009G:p.P292R<\/jats:styled-content>) and a frameshift mutation (c.551delG<\/jats:styled-content>:p.C184Sfs<\/jats:styled-content>). The frameshift mutation is expected to lead to nonsense\u2010mediated mRNA<\/jats:styled-content> decay (NMD<\/jats:styled-content>) and\/or to protein truncation. Expression of BRF1<\/jats:styled-content><\/jats:italic> with the P292R<\/jats:styled-content> missense mutation failed to rescue yeast lacking BRF1<\/jats:styled-content><\/jats:italic>. The findings confirm a previous report showing that biallelic mutations in BRF1<\/jats:styled-content><\/jats:italic> cause cerebellar\u2013facial\u2013dental syndrome. Our findings also help define the growth phenotype, indicating that the linear growth failure can become clinically evident before the neurological abnormalities and that a severely delayed bone age may serve as a diagnostic clue.<\/jats:p>","DOI":"10.1111\/cge.12887","type":"journal-article","created":{"date-parts":[[2016,10,17]],"date-time":"2016-10-17T15:07:21Z","timestamp":1476716841000},"page":"739-747","source":"Crossref","is-referenced-by-count":28,"title":["BRF1<\/scp><\/i> mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies"],"prefix":"10.1111","volume":"91","author":[{"given":"Y.H.","family":"Jee","sequence":"first","affiliation":[{"name":"Section on Growth and Development Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health Bethesda Maryland 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