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

Autor:	Yakubi M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Cicek D; Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Demir M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Yildirim A; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Hatipoglu N; Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Ozkul Y; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Dundar M; Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Jazyk:	angličtina
Zdroj:	Intractable & rare diseases research [Intractable Rare Dis Res] 2022 May; Vol. 11 (2), pp. 84-86.
DOI:	10.5582/irdr.2022.01024
Abstrakt:	Alström syndrome (AS) is a rare autosomal recessive monogenic disorder caused by mutations of the Alström 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. Competing Interests: The authors have no conflicts of interest to disclose. (2022, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.)
Databáze:	MEDLINE
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