{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T18:47:08Z","timestamp":1791139628206,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T00:00:00Z","timestamp":1395792000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Sabbatical Leave Programme of the European Society for Paediatric Endocrinology"},{"name":"Eli Lilly International Corporation, the Folkh\u00e4lsan Research Foundation and the Academy of Finland. Sunnerdahls and Norbacka-Eugenia Foundations"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Autosomal dominant brachyolmia (Type 3, OMIM #113500) belongs to a group of skeletal dysplasias caused by mutations in the transient receptor potential cation channel, subfamily V, member 4 (<jats:italic>TRPV4<\/jats:italic>) gene, encoding a Ca<jats:sup>++<\/jats:sup>\u2010permeable, non\u2010selective cation channel. The disorder is characterized by disproportionate short stature with short trunk, scoliosis and platyspondyly. The phenotypic variability and long\u2010term natural course remain inadequately characterized. The purpose of this study was to describe a large Swedish family with brachyolmia type 3 due to a heterozygous <jats:italic>TRPV4<\/jats:italic> mutation c.1847G&gt;A (p.R616Q) in 11 individuals. The mutation has previously been detected in another family with autosomal dominant brachyolmia [Rock et al., 2008]. Review of hospital records and patient assessments indicated that clinical symptoms of brachyolmia became evident by school age with chronic pain in the spine and hips; radiographic changes were evident earlier. Growth was not affected during early childhood but deteriorated with age in some patients due to increasing spinal involvement. Affected individuals had a wide range of subjective symptoms with chronic pain in the extremities and the spine, and paresthesias. Our findings indicate that autosomal dominant brachyolmia may be associated with significant long\u2010term morbidity, as seen in this family. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36502","type":"journal-article","created":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T17:43:02Z","timestamp":1395855782000},"page":"1635-1641","source":"Crossref","is-referenced-by-count":11,"title":["Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course"],"prefix":"10.1002","volume":"164","author":[{"given":"Giedre","family":"Grigelioniene","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden"},{"name":"Center for Molecular Medicine Karolinska Institutet Stockholm Sweden"},{"name":"Department of Clinical Genetics Karolinska University Hospital Stockholm 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