{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T17:12:18Z","timestamp":1786468338888,"version":"build-2736575974"},"reference-count":24,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,2,12]],"date-time":"2020-02-12T00:00:00Z","timestamp":1581465600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Legacy Heritage Bio-Medical program of the Israel Science Foundation","award":["1798\/16"],"award-info":[{"award-number":["1798\/16"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Multiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation. Impeded by a lack of natural history, knowledge gained from individual case studies forms the source for a reliable diagnosis and consultation of patients and parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We collected clinical records as well as genetic and metabolic test results from two MSD patients. The functional properties of a novel SUMF1 variant were analyzed after expression in a cell culture model.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We report on two MSD patients\u2014the first neonatal type reported in Israel\u2014both presenting with this most severe manifestation of MSD. Our patients showed uniform clinical symptoms with persistent pulmonary hypertension, hypotonia, and dysmorphism at birth. Both patients were homozygous for the same novel SUMF1 mutation (c.1043C&gt;T, p.A348V). Functional analysis revealed that the SUMF1\u2010encoded variant of formylglycine\u2010generating enzyme is highly instable and lacks catalytic function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The obtained results confirm genotype\u2012phenotype correlation in MSD, expand the spectrum of clinical presentation and are relevant for diagnosis including the extremely rare neonatal severe type of MSD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1167","type":"journal-article","created":{"date-parts":[[2020,2,12]],"date-time":"2020-02-12T08:01:33Z","timestamp":1581494493000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6975-4909","authenticated-orcid":false,"given":"Orna","family":"Staretz\u2010Chacham","sequence":"first","affiliation":[{"name":"Metabolic Clinic Soroka University Medical Center Ben Gurion University Beer Sheva Israel"},{"name":"Neonatlogy Unit Soroka University Medical Center Ben Gurion University Beer Sheva Israel"},{"name":"Division of Pediatrics Soroka University Medical Center Ben Gurion University Beer Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Schlotawa","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine University Medical Center Goettingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ohad","family":"Wormser","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics National Institute for Biotechnology in the Negev and Faculty of Health Sciences Ben Gurion University of the Negev Beer Sheva Israel"},{"name":"Shraga Segal Department of Microbiology, Immunology and Genetics Ben Gurion University of the Negev Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inbal","family":"Golan\u2010Tripto","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Soroka University Medical Center Ben Gurion University Beer Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ohad S.","family":"Birk","sequence":"additional","affiliation":[{"name":"The Morris Kahn Laboratory of Human Genetics National Institute for Biotechnology in the Negev and Faculty of Health Sciences Ben Gurion University of the Negev Beer Sheva Israel"},{"name":"Shraga Segal Department of Microbiology, Immunology and Genetics Ben Gurion University of the Negev Beer\u2010Sheva Israel"},{"name":"Genetic Institute Soroka University Medical Center Ben Gurion University Beer Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Dierks","sequence":"additional","affiliation":[{"name":"Biochemistry I Faculty of Chemistry Bielefeld University Bielefeld Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1731-7410","authenticated-orcid":false,"given":"Karthikeyan","family":"Radhakrishnan","sequence":"additional","affiliation":[{"name":"Biochemistry I Faculty of Chemistry Bielefeld University Bielefeld Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.01.005"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01899.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0871-2"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00348-9"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.03.001"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbamcr.2008.11.015"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00347-7"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M112.405159"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000469216"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-014-0086-2"},{"key":"e_1_2_8_12_1","first-page":"3725","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Hopwood J. 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