{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T11:16:57Z","timestamp":1761218217459,"version":"3.40.5"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T00:00:00Z","timestamp":1580860800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"NEI Intramural Research Grant","award":["NEI K12-EY022299"],"award-info":[{"award-number":["NEI K12-EY022299"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Jalili syndrome is a rare multisystem disorder with the most prominent features consisting of cone\u2010rod dystrophy and amelogenesis imperfecta. Few cases have been reported in the Americas. Here we describe a case series of patients with Jalili syndrome examined at the National Eye Institute's Ophthalmic Genetics clinic between 2016 and 2018. Three unrelated sporadic cases were systematically evaluated for ocular phenotype and determined to have cone\u2010rod dystrophy with bull's eye maculopathy, photophobia, and nystagmus. All patients had amelogenesis imperfecta. Two of these patients had Guatemalan ancestry and the same novel homozygous <jats:italic>CNNM4<\/jats:italic> variant (p.Arg236Trp c.706C\u2009&gt;\u2009T) without evidence of consanguinity. This variant met likely pathogenic criteria by the American College of Medical Genetics guidelines. An additional patient had a homozygous deleterious variant in <jats:italic>CNNM4<\/jats:italic> (c.279delC p.Phe93Leufs*31), which resulted from paternal uniparental isodisomy for chromosome 2p22\u20102q37. This individual had additional syndromic features including developmental delay and spastic diplegia, likely related to mutations at other loci. Our work highlights the genotypic variability of Jalili syndrome and expands the genotypic spectrum of this condition by describing the first series of patients seen in the United States.<\/jats:p>","DOI":"10.1002\/ajmg.a.61484","type":"journal-article","created":{"date-parts":[[2020,2,5]],"date-time":"2020-02-05T11:32:14Z","timestamp":1580902334000},"page":"493-497","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Expanding the genotypic spectrum of Jalili syndrome: Novel <i>CNNM4<\/i> variants and uniparental isodisomy in a north American patient cohort"],"prefix":"10.1002","volume":"182","author":[{"given":"Lev","family":"Prasov","sequence":"first","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health  Bethesda Maryland"},{"name":"Department of Ophthalmology and Visual Sciences, W.K. Kellogg Eye Center University of Michigan  Ann Arbor Michigan"},{"name":"Department of Human Genetics University of Michigan  Ann Arbor Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ehsan","family":"Ullah","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health  Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy E.","family":"Turriff","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health  Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blake M.","family":"Warner","sequence":"additional","affiliation":[{"name":"National Institute of Dental and Craniofacial Research, National Institutes of Health  Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Conley","sequence":"additional","affiliation":[{"name":"Section of Pediatric Ophthalmology, Helen DeVos Children's Hospital  Grand Rapids Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul R.","family":"Mark","sequence":"additional","affiliation":[{"name":"Spectrum Health Division of Medical Genetics  Grand Rapids Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert B.","family":"Hufnagel","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health  Bethesda Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0309-9419","authenticated-orcid":false,"given":"Laryssa A.","family":"Huryn","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health  Bethesda 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