Infant Alstrom syndrome diagnosed by a new gene mutation: a case report
| Autor: | Yujiao Ye, Xianmin Wang, Guixia Li, Xia Xiao, Xuehong Ji |
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| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Journal of International Medical Research, Vol 51 (2023) |
| Druh dokumentu: | article |
| ISSN: | 1473-2300 03000605 |
| DOI: | 10.1177/03000605231184100 |
| Popis: | 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 “coughing for half a day and dyspnea for 2 hours”. 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’s left ventricle exhibited spherical enlargement and a decrease in left ventricular function. The infant’s 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>T (p. Q3714*) was a heterozygous nonsense mutation that originated from the father. Both mutations are classified as “category 1-pathogenic mutations” 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. |
| Databáze: | Directory of Open Access Journals |
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