{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T02:59:57Z","timestamp":1774666797790,"version":"3.50.1"},"reference-count":34,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,10,22]],"date-time":"2024-10-22T00:00:00Z","timestamp":1729555200000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:sec><jats:title>Key Clinical Message<\/jats:title><jats:p>The discovery of compound heterozygous <jats:italic>NMNAT1<\/jats:italic> mutations (c.245T&gt;C; p.Val82Ala and c.575A&gt;G; p.Asp192Gly) provides a genetic explanation for Leber congenital amaurosis 9 in an Iranian patient. The proband's symptoms\u2014including severe visual impairment, nystagmus, night blindness, and retinal degeneration\u2014align with Leber congenital amaurosis 9 clinical features. This case underscores the value of exome\u2010sequencing in diagnosing rare genetic disorders and highlights its role in guiding personalized genetic counseling and potential treatments.<\/jats:p><\/jats:sec><jats:sec><jats:title>Abstract<\/jats:title><jats:p>Leber congenital amaurosis is a severe early\u2010onset inherited retinal dystrophy. This study delves into the genetic basis of Leber congenital amaurosis, pinpointing compound heterozygous mutations in the <jats:italic>NMNAT1<\/jats:italic> gene as significant causative factors. While one mutation validates previous findings (c.245T&gt;C; p.Val82Ala), the second (c.575A&gt;G; p.Asp192Gly) proves novel, expanding the genetic landscape of Leber congenital amaurosis 9. Both mutations, inherited independently from nonconsanguineous parents, contribute to the intricate genetic basis of light on Leber congenital amaurosis 9 in this case. The identified mutations shed light on Leber congenital amaurosis genetics in the Iranian population, showcasing the efficacy of exome\u2010sequencing for molecular diagnoses in hereditary retinal degeneration. These findings provide valuable insights for tailored genetic counseling and potential therapeutic interventions.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ccr3.9506","type":"journal-article","created":{"date-parts":[[2024,10,23]],"date-time":"2024-10-23T03:48:55Z","timestamp":1729655335000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Identification and characterization of <scp><i>NMNAT1<\/i><\/scp> gene mutations in an Iranian patient with Leber congenital amaurosis 9"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9359-2054","authenticated-orcid":false,"given":"Mostafa","family":"Neissi","sequence":"first","affiliation":[{"name":"Department of Genetics, Khuzestan Science and Research Branch Islamic Azad University  Ahvaz Iran"},{"name":"Department of Genetics, Ahvaz Branch Islamic Azad University  Ahvaz Iran"},{"name":"Noor\u2010Gene Genetic Laboratory  Ahvaz 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Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-0369-3994","authenticated-orcid":false,"given":"Mojdeh","family":"Roghani","sequence":"additional","affiliation":[{"name":"Noor\u2010Gene Genetic Laboratory  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1750-0541","authenticated-orcid":false,"given":"Javad","family":"Mohammadi\u2010Asl","sequence":"additional","affiliation":[{"name":"Noor\u2010Gene Genetic Laboratory  Ahvaz Iran"},{"name":"Department of Medical Genetics, School of Medicine Ahvaz Jundishapur University of Medical Sciences  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3293-053X","authenticated-orcid":false,"given":"Kamele","family":"Jorfi","sequence":"additional","affiliation":[{"name":"Noor\u2010Gene Genetic Laboratory  Ahvaz 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