{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T02:17:41Z","timestamp":1791339461726,"version":"4.3.1"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,6,11]],"date-time":"2024-06-11T00:00:00Z","timestamp":1718064000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000615","name":"Fight for Sight UK","doi-asserted-by":"publisher","award":["5045\/46"],"award-info":[{"award-number":["5045\/46"]}],"id":[{"id":"10.13039\/501100000615","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["206619\/Z\/17\/Z"],"award-info":[{"award-number":["206619\/Z\/17\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["205174\/Z\/16\/Z"],"award-info":[{"award-number":["205174\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012618","name":"National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology","doi-asserted-by":"publisher","award":["NIHR203322"],"award-info":[{"award-number":["NIHR203322"]}],"id":[{"id":"10.13039\/501100012618","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic variants in\n                    <jats:italic>SUMF1<\/jats:italic>\n                    are associated with multiple sulfatase deficiency (MSD), a rare lysosomal storage disorder typically diagnosed in early infancy or childhood, marked by severe neurodegeneration and early mortality. We present clinical and molecular characterisation of three unrelated patients aged 13 to 58\u2009years with milder clinical manifestations due to\n                    <jats:italic>SUMF1<\/jats:italic>\n                    disease variants, including two adult patients presenting with apparent non\u2010syndromic retinal dystrophy. Whole genome sequencing identified biallelic\n                    <jats:italic>SUMF1<\/jats:italic>\n                    variants in all three patients; Patient 1 homozygous for a complex allele c.[290G&gt;T;293T&gt;A]; p.[(Gly97Val);(Val98Glu)], Patient 2 homozygous for c.866A&gt;G; p.(Tyr289Cys), and Patient 3 compound heterozygous for c.726\u20101G&gt;C and p.(Tyr289Cys). Electroretinography indicated a rod\u2010cone dystrophy with additional possible inner retinal dysfunction in all three patients. Biochemical studies confirmed reduced, but not absent, sulfatase enzyme activity in the absence of extra\u2010ocular disease (Patient 1) or only mild systemic disease (Patients 2, 3). These cases are suggestive that non\u2010null\n                    <jats:italic>SUMF1<\/jats:italic>\n                    genotypes can cause an attenuated clinical phenotype, including retinal dystrophy without systemic complications, in adulthood.\n                  <\/jats:p>","DOI":"10.1111\/cge.14573","type":"journal-article","created":{"date-parts":[[2024,6,12]],"date-time":"2024-06-12T01:18:26Z","timestamp":1718155106000},"page":"505-511","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Non\u2010syndromic retinal dystrophy associated with biallelic variation of\n                    <scp>\n                      <i>SUMF1<\/i>\n                    <\/scp>\n                    and reduced leukocyte sulfatase activity"],"prefix":"10.1111","volume":"106","author":[{"given":"Siying","family":"Lin","sequence":"first","affiliation":[{"name":"NIHR Biomedical Research Centre Moorfields Eye Hospital and the UCL Institute of Ophthalmology  London UK"},{"name":"UCL Institute of Ophthalmology University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony G.","family":"Robson","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre Moorfields Eye Hospital and the UCL Institute of Ophthalmology  London UK"},{"name":"UCL Institute of Ophthalmology University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothy A.","family":"Thompson","sequence":"additional","affiliation":[{"name":"Tony Kriss Visual Electrophysiology Unit, Department of Clinical and Academic Department of Ophthalmology, Sight and Sound Centre Great Ormond Street Hospital for Children  London UK"},{"name":"UCL Great Ormond Street Institute of Child Health University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolina M.","family":"Stepien","sequence":"additional","affiliation":[{"name":"Adult Inherited Metabolic Disorders, Salford Royal Organisation Northern Care Alliance NHS Foundation Trust  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Lachmann","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Footitt","sequence":"additional","affiliation":[{"name":"Department of Metabolic Paediatrics Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ola","family":"Czyz","sequence":"additional","affiliation":[{"name":"Department of Metabolic Paediatrics Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shwetha","family":"Chandrasekhar","sequence":"additional","affiliation":[{"name":"UCL Institute of Ophthalmology University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Schiff","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre Moorfields Eye Hospital and the UCL Institute of Ophthalmology  London UK"},{"name":"UCL Institute of Ophthalmology University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christos","family":"Iosifidis","sequence":"additional","affiliation":[{"name":"Manchester Royal Eye Hospital Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graeme C.","family":"Black","sequence":"additional","affiliation":[{"name":"Manchester Royal Eye Hospital Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Michaelides","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre Moorfields Eye Hospital and the UCL Institute of Ophthalmology  London UK"},{"name":"UCL Institute of Ophthalmology University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar A.","family":"Mahroo","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre Moorfields Eye Hospital and the UCL Institute of Ophthalmology  London UK"},{"name":"UCL Institute of Ophthalmology University College London  London UK"},{"name":"Department of Ophthalmology St Thomas' Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6165-7888","authenticated-orcid":false,"given":"Gavin","family":"Arno","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre Moorfields Eye Hospital and the UCL Institute of Ophthalmology  London UK"},{"name":"UCL Institute of Ophthalmology University College London  London UK"},{"name":"Division of Research Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Webster","sequence":"additional","affiliation":[{"name":"NIHR Biomedical Research Centre Moorfields Eye Hospital and the UCL Institute of Ophthalmology  London UK"},{"name":"UCL Institute of Ophthalmology University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,6,11]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(03)00746-7"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u20103\u2010319\u201066816\u20101_1774\u20101"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/children10030595"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12298"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1381-5"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.07.040"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31822"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12282"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9504"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01121-0"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12074"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9515"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0700382104"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12577"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-108061"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.227"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9459-0"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2015.1028647"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-012-2215-1"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1232-0"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2005.11.007"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom11121775"}],"container-title":["Clinical 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