{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T12:26:36Z","timestamp":1768479996807,"version":"3.49.0"},"reference-count":9,"publisher":"Cold Spring Harbor Laboratory","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:p>Nonimmune hydrops fetalis, the excessive accumulation of serous fluid in the subcutaneous tissues and serous cavities of the fetus, has many possible etiologies, providing a diagnostic challenge for the physician. Lysosomal storage diseases have been reported in up to 5%\u201316% of nonimmune hydrops fetalis pregnancies. Infantile free sialic acid storage disease (ISSD) (OMIM #269920) is a severe form of autosomal recessive sialic acid storage disease. ISSD is caused by mutations in <jats:italic>SLC17A5<\/jats:italic> (OMIM #604322), which encodes sialin, a lysosomal-membrane sialic acid transporter. We describe a case of fetal hydrops due to a novel homozygous deletion in the <jats:italic>SLC17A5<\/jats:italic> gene. Prenatal single-nucleotide polymorphism (SNP) array analysis was performed on amniocytes after the discovery of fetal hydrops at 24 wk gestation revealing no copy-number variants. The SNP array, however, reported several regions of homozygosity (ROHs) including one on Chromosome 6 encompassing the <jats:italic>SLC17A5<\/jats:italic> gene. High levels of urine sialic acid in the newborn were detected. <jats:italic>SLC17A5<\/jats:italic> gene sequencing was initiated with no sequence variants identified; however, the assay failed to amplify exons 8 and 9, prompting an exon-level copy-number analysis that revealed a novel homozygous deletion of exons 8 and 9, inherited from heterozygous carrier parents. ISSD should be considered in the workup of patients with nonimmune hydrops fetalis, and analysis for <jats:italic>SLC17A5<\/jats:italic> deletions should be carried out when variants are not detected by gene sequencing.<\/jats:p>","DOI":"10.1101\/mcs.a006106","type":"journal-article","created":{"date-parts":[[2021,10,20]],"date-time":"2021-10-20T18:44:39Z","timestamp":1634755479000},"page":"a006106","source":"Crossref","is-referenced-by-count":5,"title":["Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the <i>SLC17A5<\/i> gene"],"prefix":"10.1101","volume":"7","author":[{"given":"Afia","family":"Hasnain","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sherri","family":"Burnett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald","family":"Agatep","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Spriggs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernard","family":"Chodirker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aizeddin (Aziz) A.","family":"Mhanni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2021,10,19]]},"reference":[{"key":"2021112406092410000_7.5.a006106.1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23626"},{"key":"2021112406092410000_7.5.a006106.2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1431"},{"key":"2021112406092410000_7.5.a006106.3","doi-asserted-by":"publisher","DOI":"10.1086\/303077"},{"key":"2021112406092410000_7.5.a006106.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029744"},{"key":"2021112406092410000_7.5.a006106.5","doi-asserted-by":"publisher","DOI":"10.4236\/ojgen.2013.32A3007"},{"key":"2021112406092410000_7.5.a006106.6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20024"},{"key":"2021112406092410000_7.5.a006106.7","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2021112406092410000_7.5.a006106.8","doi-asserted-by":"publisher","DOI":"10.1038\/70585"},{"key":"2021112406092410000_7.5.a006106.9","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0051-3"}],"container-title":["Molecular Case Studies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1101\/mcs.a006106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,24]],"date-time":"2021-11-24T14:15:28Z","timestamp":1637763328000},"score":1,"resource":{"primary":{"URL":"http:\/\/molecularcasestudies.cshlp.org\/lookup\/doi\/10.1101\/mcs.a006106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10]]},"references-count":9,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,10,19]]},"published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1101\/mcs.a006106"],"URL":"https:\/\/doi.org\/10.1101\/mcs.a006106","relation":{},"ISSN":["2373-2865","2373-2873"],"issn-type":[{"value":"2373-2865","type":"print"},{"value":"2373-2873","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10]]}}}