{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:49Z","timestamp":1753869709031,"version":"3.41.2"},"reference-count":16,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T00:00:00Z","timestamp":1623283200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Rhizomelic chondrodysplasia punctata (RCDP) is a clinical entity resulting from defects of peroxisomal metabolism whose clinical phenotype is characterized by rhizomelia, calcified foci in periarticular cartilage, coronal lesions of vertebral bodies, cataracts and severe cognitive delay. Usually, survival does not exceed the first decade of life. Transmission is autosomal recessive and is related to mutations in the <jats:italic>PEX7<\/jats:italic>, <jats:italic>GNPAT<\/jats:italic> or <jats:italic>AGPS<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A detailed description of the prenatal ultrasound signs of RCDP found in two successive pregnancies in a consanguineous couple is reported. Molecular genetic investigations included the study of the coding regions and the exon\u2013intron junctions of the <jats:italic>GNPAT<\/jats:italic> (high\u2010throughput amplification and sequencing performed with Roche NimbleGen SeqCap Target kit on Illumina platform); the confirmation test was carried out by amplification and Sanger sequencing with automatic capillary sequencer.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In addition to the typical prenatal ultrasound signs described in the literature in association with RCDP, the presence of prefrontal oedema, never previously described, has been detected in both pregnancies. Moreover, genetic investigations have found a new splicing variant c.924+1G&gt;A of the homozygous <jats:italic>GNPAT<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The role of mutation in the <jats:italic>GNPAT<\/jats:italic> suggests a likely association with the clinical phenotype.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1733","type":"journal-article","created":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T23:06:16Z","timestamp":1623366376000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A new <i>GNPAT<\/i> variant of foetal rhizomelic chondrodysplasia punctata"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2206-8909","authenticated-orcid":false,"given":"Adalgisa","family":"Cordisco","sequence":"first","affiliation":[{"name":"Division of Prenatal Diagnosis Center P. Palagi Hospital Florence Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabetta","family":"Pelo","sequence":"additional","affiliation":[{"name":"Department of Genetic Diagnosis Careggi Hospital Florence Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariarosaria","family":"Di Tommaso","sequence":"additional","affiliation":[{"name":"Division of Obstetrics and Gynecology Department of Health Sciences University of Florence Florence Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Biagiotti","sequence":"additional","affiliation":[{"name":"Division of Prenatal Diagnosis Meyer Children's Hospital Florence Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,6,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000083899"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-018-4098-8"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199904)19:4<383::AID-PD544>3.0.CO;2-S"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.2002.01022.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.9047"},{"issue":"3","key":"e_1_2_6_7_1","first-page":"497","article-title":"Prenatal diagnosis of chondrodysplasia punctata by sonography","volume":"76","author":"Duff P.","year":"1990","journal-title":"Obstetrics and Gynecology"},{"issue":"4","key":"e_1_2_6_8_1","first-page":"533","article-title":"Prenatal diagnosis of rhizomelic chondrodysplasia punctata","volume":"27","author":"Erdogdu E.","year":"2016","journal-title":"Genetic Counseling"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.1870220411"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.7863\/jum.1999.18.10.715"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198507183130322"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1246"},{"key":"e_1_2_6_13_1","unstructured":"OMIM\u00ae Online Mendelian Inheritance in Man\u00ae.An Online Catalog of Human Genes and Genetic Disorders. Rhizomelic Chondrodysplasia Punctata Type 2; RCDP2 n 222765."},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.5404"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970140821"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.04.006"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1733","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1733","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1733","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T17:46:26Z","timestamp":1693331186000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,10]]},"references-count":16,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["10.1002\/mgg3.1733"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1733","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2021,6,10]]},"assertion":[{"value":"2020-05-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-06-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1733"}}