{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:03:29Z","timestamp":1777727009123,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"In-Hospital Science and Technology Innovation Fund Project of Sichuan Provincial Maternity and Child Health Care Hospital","award":["No. ZC5.47"],"award-info":[{"award-number":["No. ZC5.47"]}]},{"name":"Sichuan Science and Technology Plan Project of China","award":["No.2020YFS0403"],"award-info":[{"award-number":["No.2020YFS0403"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:p>Alstrom syndrome is a rare autosomal recessive disorder resulting from an ALMS1 gene mutation. Here, we present the clinical data of a case of an infant diagnosed with Alstrom syndrome through whole-exome sequencing. A 2-month-old male infant was admitted to Sichuan Provincial Maternity and Child Health Care Hospital on 30 May 2019 after \u201ccoughing for half a day and dyspnea for 2 hours\u201d. He was diagnosed with severe pneumonia, acute congestive heart failure, Grade III cardiac function, acute respiratory failure, and myocarditis. After treatment, he was discharged with a prescription for oral medication. After a 4-month follow-up, the patient\u2019s left ventricle exhibited spherical enlargement and a decrease in left ventricular function. The infant\u2019s whole-exome sequencing results revealed compound heterozygous mutations in the ALMS1 gene: c.2179dup (p. Y727Lfs*12), a frameshift mutation, that was heterozygous and originated from the mother, while c.11140C&gt;T (p. Q3714*) was a heterozygous nonsense mutation that originated from the father. Both mutations are classified as \u201ccategory 1-pathogenic mutations\u201d according to the American College of Medical Genetics and Genomics (ACMG) assessment. A novel ALMS1 mutation was identified in this case report, highlighting the importance of genetic testing for the early diagnosis of Alstrom syndrome.<\/jats:p>","DOI":"10.1177\/03000605231184100","type":"journal-article","created":{"date-parts":[[2023,7,13]],"date-time":"2023-07-13T02:47:06Z","timestamp":1689216426000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Infant Alstrom syndrome diagnosed by a new gene mutation: a case report"],"prefix":"10.1177","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0079-7630","authenticated-orcid":false,"given":"Yujiao","family":"Ye","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Women and Children's Hospital Affiliated to Chengdu Medical College, Chengdu, Sichuan Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianmin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Women and Children's Hospital Affiliated to Chengdu Medical College, Chengdu, Sichuan Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guixia","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Women and Children's Hospital Affiliated to Chengdu Medical College, Chengdu, Sichuan Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xia","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Women and Children's Hospital Affiliated to Chengdu Medical College, Chengdu, Sichuan Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuehong","family":"Ji","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Women and Children's Hospital Affiliated to Chengdu Medical College, Chengdu, Sichuan Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,7,12]]},"reference":[{"key":"bibr1-03000605231184100","first-page":"1","volume":"129","author":"Alstrom CH","year":"1959","journal-title":"Acta Psychiatr Neurol Scand 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