{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T04:39:51Z","timestamp":1789533591337,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2010,10,12]],"date-time":"2010-10-12T00:00:00Z","timestamp":1286841600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2011,8]]},"abstract":"<jats:p>Boyadjiev SA, Kim S\u2010D, Hata A, Haldeman\u2010Englert C, Zackai EH, Naydenov C, Hamamoto S, Schekman RW, Kim J. Cranio\u2010lenticulo\u2010sutural dysplasia associated with defects in collagen secretion.<\/jats:p><jats:p>Cranio\u2010lenticulo\u2010sutural dysplasia (CLSD) is a rare autosomal recessive syndrome manifesting with large and late\u2010closing fontanels and calvarial hypomineralization, Y\u2010shaped cataracts, skeletal defects, and hypertelorism and other facial dysmorphisms. The CLSD locus was mapped to chromosome 14q13\u2010q21 and a homozygous <jats:italic>SEC23A F382L<\/jats:italic> missense mutation was identified in the original family. Skin fibroblasts from these patients exhibit features of a secretion defect with marked distension of the endoplasmic reticulum (ER), consistent with <jats:italic>SEC23A<\/jats:italic> function in protein export from the ER. We report an unrelated family where a male proband presented with clinical features of CLSD. A heterozygous missense <jats:italic>M702V<\/jats:italic> mutation in a highly conserved residue of <jats:italic>SEC23A<\/jats:italic> was inherited from the clinically unaffected father, but no maternal <jats:italic>SEC23A<\/jats:italic> mutation was identified. Cultured skin fibroblasts from this new patient showed a severe secretion defect of collagen and enlarged ER, confirming aberrant protein export from the ER. Milder collagen secretion defects and ER distention were present in paternal fibroblasts, indicating that an additional mutation(s) is present in the proband. Our data suggest that defective ER export is the cause of CLSD and genetic element(s) besides <jats:italic>SEC23A<\/jats:italic> may influence its presentation.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2010.01550.x","type":"journal-article","created":{"date-parts":[[2010,9,16]],"date-time":"2010-09-16T18:13:25Z","timestamp":1284660805000},"page":"169-176","source":"Crossref","is-referenced-by-count":72,"title":["Cranio\u2010lenticulo\u2010sutural dysplasia associated with defects in collagen secretion"],"prefix":"10.1111","volume":"80","author":[{"given":"SA","family":"Boyadjiev","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u2010D","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Hata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Haldeman\u2010Englert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"EH","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Naydenov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Hamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RW","family":"Schekman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,10,12]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20833"},{"key":"e_1_2_7_3_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00439-003-0932-6","article-title":"A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13\u2010q21.","volume":"113","author":"Boyadjiev SA","year":"2003","journal-title":"Hum Genet"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1876"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02633976"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M411091200"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2007.10.005"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-003-0814-6"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250418"},{"key":"e_1_2_7_10_2","first-page":"6","article-title":"Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations.","volume":"1","author":"Fine BA","year":"1983","journal-title":"J Clin Dysmorphol"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2007.10.006"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01040"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.3109\/03008208909049994"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1276205"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1962"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E03-03-0162"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1880"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.031070"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2010.01550.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2010.01550.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T17:22:20Z","timestamp":1694452940000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2010.01550.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,12]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,8]]}},"alternative-id":["10.1111\/j.1399-0004.2010.01550.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2010.01550.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,10,12]]}}}