Diagnosing Alstrom syndrome in a patient followed up with syndromic obesity for years

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YAKUBİ M., Cicek D., Demir M., YILDIRIM A., HATİPOĞLU N., ÖZKUL Y., ...More

Intractable and Rare Diseases Research, vol.11, no.2, pp.84-86, 2022 (ESCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 2
  • Publication Date: 2022
  • Doi Number: 10.5582/irdr.2022.01024
  • Journal Name: Intractable and Rare Diseases Research
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.84-86
  • Keywords: ALMS1 gene, biallelic mutations, obesity, rare diseases
  • Kayseri University Affiliated: No


© 2022 International Advancement Center for Medicine and Health Research. All rights reserved.Alstrom syndrome (AS) is a rare autosomal recessive monogenic disorder caused by mutations of the Alstrom syndrome 1 (ALMS1) gene, located on chromosome 2p13. It is a progressive multisystemic disease characterized mostly by obesity, sensorineural hearing loss, visual impairments, cardiomyopathy, insulin resistance and/or type 2 diabetes mellitus (T2DM), metabolic dysfunctions, non-alcoholic fatty liver disease, and chronic progressive kidney disease. Generally, the first clinical symptoms of the disease appear in the first years of life with a major variation of onset age. In this study, we aimed to examine the molecular diagnosis of a 6-year-old patient with suspected AS clinical symptoms. After applying clinical exome sequencing (CES) in the patient we found a homozygous deletion in exon 8 at the ALMS1 gene (c.2311_2312del). We identified a homozygous frameshift mutation. The reported variant was pathogenic according to the criteria of the American College of Medical Genetics and Genomics (ACMG). Thus, the patient was diagnosed with AS as a result of the combined clinical phenotype and genetic tests results. We hope the variant we found can expand the spectrum of ALMS1 variants in AS.