{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T15:14:08Z","timestamp":1761664448204,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,8,11]],"date-time":"2022-08-11T00:00:00Z","timestamp":1660176000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003009","name":"Science and Technology Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003009","name":"Science and Technology Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003009","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spondylo\u2010epi\u2010metaphyseal dysplasias (SEMDs) are a clinically and genetically heterogeneous group of skeletal dysplasias characterized by short stature and abnormal modeling of the spine and long bones. A novel form of rhizomelic skeletal dysplasia, Ain\u2010Naz type, associated with a homozygous variant in <jats:italic>GNPNAT1<\/jats:italic> was recently identified. Herein, we report an Egyptian patient, offspring of consanguineous parents, who presented with a severe form of unclassified SEMD. Whole exome sequencing identified a novel homozygous variant in exon 3, c.77T&gt;G, (p.Phe26Cys) in <jats:italic>GNPNAT1<\/jats:italic>, that was confirmed by Sanger sequencing and both parents were found to be heterozygous for the identified variant. Main features included severe short stature, rhizomelic limb shortening, and wide flared metaphysis. Short broad long bones, brachydactyly, delayed epiphyseal ossification of long bones, advanced bone age, and immunodeficiency were additional findings expanding the clinical phenotype described in the previously reported family. We conclude that variants in the <jats:italic>GNPNAT1<\/jats:italic> gene cause an autosomal recessive form of SEMD resembling Desbuquois like dysplasia caused by <jats:italic>PGM3<\/jats:italic>, which is involved in the same pathway as <jats:italic>GNPNAT1<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.62933","type":"journal-article","created":{"date-parts":[[2022,8,11]],"date-time":"2022-08-11T08:30:26Z","timestamp":1660206626000},"page":"2861-2868","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel variant in <scp><i>GNPNAT1<\/i><\/scp> gene causing a spondylo\u2010epi\u2010metaphyseal dysplasia resembling <scp><i>PGM3<\/i><\/scp>\u2014Desbuquois like dysplasia"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1498-6619","authenticated-orcid":false,"given":"Rasha Moheb","family":"Elhossini","sequence":"first","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7768-0265","authenticated-orcid":false,"given":"Hoda Abdalla","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department Human Genetics and Genome Research Institute, National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2313-7387","authenticated-orcid":false,"given":"Ghada","family":"Otaify","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Institute, National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raghda M.","family":"Ghorab","sequence":"additional","affiliation":[{"name":"Immunogenetics Department Human Genetics and Genome Research Institute, National Research Centre  Cairo 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