{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T11:46:00Z","timestamp":1791978360188,"version":"4.4.0"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,8,7]],"date-time":"2022-08-07T00:00:00Z","timestamp":1659830400000},"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":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>SLC35D1<\/jats:italic> gene encodes UDP\u2010glucuronic acid\/UDP\u2010n\u2010acetylgalactosamine dual transporter protein and transports organic or inorganic molecules across cellular membranes. <jats:italic>SLC35D1<\/jats:italic> gene pathogenic variants causes Schneckenbecken dysplasia (SHNKND) which is a rare lethal autosomal recessive disorder characterized by the snail\u2010like pelvis, flattening of vertebral bodies, short and broad long bones with a dumbbell\u2010like appearance, thoracic hypoplasia. Only six cases with homozygous <jats:italic>SLC35D1<\/jats:italic> variants have been reported to date, and all of these cases were lost in the perinatal period. Here we report different family members with a novel <jats:italic>SLC35D1<\/jats:italic> variant who presented a milder phenotype of SHNKND. The affected patients have common clinical features such as short stature, mild mesomelia, shortening of the lower extremity, genu valgum, and narrow thorax. Exome sequencing of the proband revealed a homozygous missense variant of <jats:italic>SLC35D1<\/jats:italic> gene, c.401\u2009T\u2009&gt;\u2009C (p. Met134Thr). The affected siblings, their two cousins, and their paternal uncle with a similar phenotype were also homozygous for the variant. This is the first case report of a family with a novel likely pathogenic variant (p. Met134Thr) and mild phenotypic features. It has the largest family with different ages of patients (ages ranged 4\u201331\u2009years old) reported to date. The present report supports the evidence that the p. Met134Thr variant is responsible for a milder phenotype than previously reported cases with <jats:italic>SLC35D1<\/jats:italic> pathogenic variants.<\/jats:p>","DOI":"10.1002\/ajmg.a.62939","type":"journal-article","created":{"date-parts":[[2022,8,8]],"date-time":"2022-08-08T06:36:03Z","timestamp":1659940563000},"page":"3078-3083","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel <scp><i>SLC35D1<\/i><\/scp> variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8763-5268","authenticated-orcid":false,"given":"Leyla","family":"\u00d6zer","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Yuksek \u0130htisas University Medical School  Ankara Turkey"},{"name":"Mikrogen Genetic Diagnosis Center  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suleyman","family":"Aktuna","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Yuksek \u0130htisas University Medical School  Ankara Turkey"},{"name":"Mikrogen Genetic Diagnosis Center  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evrim","family":"Unsal","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Yuksek \u0130htisas University Medical School  Ankara Turkey"},{"name":"Mikrogen Genetic Diagnosis Center  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet Altay","family":"\u00dcnal","sequence":"additional","affiliation":[{"name":"Ankara University Stem Cell Institute Ankara University  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guler","family":"Sahin","sequence":"additional","affiliation":[{"name":"Genart IVF Center  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Volkan","family":"Baltaci","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Yuksek \u0130htisas University Medical School  Ankara Turkey"},{"name":"Mikrogen Genetic Diagnosis Center  Ankara 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