{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:59Z","timestamp":1753869719654,"version":"3.41.2"},"reference-count":24,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T00:00:00Z","timestamp":1729641600000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Acromesomelic chondrodysplasias are a rare subgroup of the clinically and genetically heterogeneous osteochondrodysplasias that are characterised by abnormalities in the limb development and short stature. Here, we report a 2\u2010year\u2010old boy, offspring of consanguineous parents, with acromesomelic dysplasia and postaxial polydactyly in which exome sequencing identified a novel homozygous missense variant in <jats:italic>BMPR1B<\/jats:italic>. The patient showed skeletal malformation of both hands and feet that included complex brachydactyly with the thumbs most severely affected, postaxial polydactyly of both hands, shortened toes as well as a bilateral hypoplasia of the fibula.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole trio exome sequencing was conducted to identify potential genetic variants in the patient.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The analysis identified the biallelic variant NM_001203.3:c.821A\u2009&gt;\u2009G;p.(Gln274Arg) in <jats:italic>BMPR1B<\/jats:italic>, a gene encoding bone morphogenetic protein receptor 1B.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The skeletal phenotype can be brought in line with the phenotypes of previously reported cases of <jats:italic>BMPR1B<\/jats:italic>\u2010associated chondrodysplasias. However, the postaxial polydactyly described here is a novel clinical finding in a <jats:italic>BMPR1B<\/jats:italic>\u2010related case; notably, it has previously been reported in other acromesomelic dysplasia cases caused by homozygous pathogenic variants in <jats:italic>GDF5<\/jats:italic>\u2014a gene which encodes for growth differentiation factor 5, a high\u2010affinity ligand to <jats:italic>BMPR1B<\/jats:italic>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70023","type":"journal-article","created":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T13:23:56Z","timestamp":1729689836000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic <scp><i>BMPR1B<\/i><\/scp> Variant: Postaxial Polydactyly as a Novel Clinical Finding"],"prefix":"10.1002","volume":"12","author":[{"given":"Ibrahim\u00a0M.","family":"Abdelrazek","sequence":"first","affiliation":[{"name":"Department of Human Genetics Medical Research Institute, Alexandria University  Alexandria Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexej","family":"Knaus","sequence":"additional","affiliation":[{"name":"Institute for Genomic Statistics and Bioinformatics, Medical Faculty University of Bonn, University Hospital Bonn  Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9317-6114","authenticated-orcid":false,"given":"Behnam","family":"Javanmardi","sequence":"additional","affiliation":[{"name":"Institute for Genomic Statistics and Bioinformatics, Medical Faculty University of Bonn, University Hospital Bonn  Bonn 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