{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:34:24Z","timestamp":1790832864605,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T00:00:00Z","timestamp":1718064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Dyggve\u2013Melchior\u2013Clausen dysplasia (DMC) and Smith\u2013McCort dysplasia (SMC types 1 and 2) are rare spondylo\u2010epi\u2010metaphyseal dysplasias with identical radiological and clinical findings. DMC and SMC type 1 are allelic disorders caused by homozygous or compound heterozygous variants in <jats:italic>DYM<\/jats:italic>, while biallelic causative variants in <jats:italic>RAB33B<\/jats:italic> lead to SMC type 2. The terminology \u201cskeletal golgipathies\u201d has been recently used to describe these conditions, highlighting the pivotal role of these two genes in the organization and intracellular trafficking of the Golgi apparatus. In this study, we investigated 17 affected individuals (8 males, 9 females) from 10 unrelated consanguineous families, 10 diagnosed with DMC and seven with SMC type 2. The mean age at diagnosis was 9.61\u2009\u00b1\u20099.72\u2009years, ranging from 20\u2009months to 34\u2009years, and the average height at diagnosis was 92.85\u2009\u00b1\u200915.50\u2009cm. All patients exhibited variable degrees of short trunk with a barrel chest, protruding abdomen, hyperlordosis, and decreased joint mobility. A total of nine different biallelic variants were identified, with six being located in the <jats:italic>DYM<\/jats:italic> gene and the remaining three detected in <jats:italic>RAB33B<\/jats:italic>. Notably, five variants were classified as novel, four in the <jats:italic>DYM<\/jats:italic> gene and one in the <jats:italic>RAB33B<\/jats:italic> gene. This study aims to comprehensively assess clinical, radiological, and molecular findings along with the long\u2010term follow\u2010up findings in 17 patients with DMC and SMC type 2. Our results suggest that clinical symptoms of the disorder typically appear from infancy to early childhood. The central notches of the vertebral bodies were identified as early as 20\u2009months and tended to become rectangular, particularly around 15\u2009years of age. Pseudoepiphysis was observed in five patients; we believe this finding should be taken into consideration when evaluating hand radiographs in clinical assessments. Furthermore, our research contributes to an enhanced understanding of clinical and molecular aspects in these rare \u201cskeletal golgipathies,\u201d expanding the mutational spectrum and offering insights into long\u2010term disease outcomes.<\/jats:p>","DOI":"10.1002\/ajmg.a.63785","type":"journal-article","created":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T09:55:55Z","timestamp":1718099755000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Further defining the molecular spectrum and long\u2010term follow\u2010up of 17 patients with Dyggve\u2013Melchior\u2013Clausen and Smith\u2013<scp>McCort<\/scp> dysplasia type 2"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9770-284X","authenticated-orcid":false,"given":"Ak\u00e7ahan","family":"Akal\u0131n","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics, Department of Pediatrics Hacettepe 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