{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T05:19:22Z","timestamp":1787894362039,"version":"build-2784847793"},"reference-count":8,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T00:00:00Z","timestamp":1768780800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Alstr\u00f6m syndrome (AS) is a rare autosomal\u2010recessive ciliopathy caused by biallelic variants in\n                    <jats:italic>ALMS1<\/jats:italic>\n                    , with an incidence of 1 in 10,000 to 1 in 1,000,000 live births. We report a female diagnosed at age 5 with a previously unreported homozygous nonsense variant in\n                    <jats:italic>ALMS1<\/jats:italic>\n                    : c.4740C&gt;G (p.Tyr1580Ter), located in exon 8, a known hotspot for pathogenic variants. The variant aligns with the loss\u2010of\u2010function mechanism seen in most\n                    <jats:italic>ALMS1<\/jats:italic>\n                    \u2010related AS cases and is found within a 15\u2009Mb run of homozygosity, consistent with her history of parental consanguinity. Her clinical picture included progressive hearing loss, dyslipidemia, and worsening hyperglycemia despite lifestyle interventions. Due to accelerated weight gain and declining glycemic control, dulaglutide, a glucagon\u2010like peptide\u20101 receptor agonist (GLP\u20101 RA), was initiated. Over 48\u2009weeks, BMI decreased from 190% to 160% of the 95th percentile, with a 0.95\n                    <jats:italic>z<\/jats:italic>\n                    \u2010score reduction, 1.2% HbA1c decrease into the normal range. This case expands our understanding of the\n                    <jats:italic>ALMS1<\/jats:italic>\n                    mutational spectrum and provides the first longitudinal report of GLP\u20101 RA benefit in AS, supporting its consideration as adjunctive therapy and highlighting the need for further study.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70055","type":"journal-article","created":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T09:59:12Z","timestamp":1768816752000},"page":"1151-1155","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Presentation of a Child With a Novel\n                    <scp>ALMS1<\/scp>\n                    Variant Associated With Alstr\u00f6m Syndrome and Favorable Response to\n                    <scp>GLP<\/scp>\n                    \u20101 Receptor Agonist Therapy"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4806-1385","authenticated-orcid":false,"given":"Griselda","family":"Alvarez","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology University of California Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alden","family":"Huang","sequence":"additional","affiliation":[{"name":"Pathology and Laboratory Medicine University of California Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-3107-2256","authenticated-orcid":false,"given":"Wayne W.","family":"Grody","sequence":"additional","affiliation":[{"name":"Pathology and Laboratory Medicine, Pediatrics and Human Genetics University of California Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Yazdani","sequence":"additional","affiliation":[{"name":"Pediatrics University of California Los Angeles  Los Angeles California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,19]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12020\u2010021\u201002643\u2010y"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/aos.13612"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24021703"},{"key":"e_1_2_10_5_1","volume-title":"GeneReviews","author":"Paisey R. B.","year":"2019"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE\u201020\u20100363"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgac418"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u201001468\u20108"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.15133"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70055","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmga.70055","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70055","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T04:43:59Z","timestamp":1787892239000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmga.70055"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,19]]},"references-count":8,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1002\/ajmga.70055"],"URL":"https:\/\/doi.org\/10.1002\/ajmga.70055","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,19]]},"assertion":[{"value":"2025-07-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-19","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}