Genetic evaluation of patients with Alström syndrome in the Polish population |
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| Authors: | A. Zmyslowska M. Borowiec K. Antosik R. Ploski M. Ciechanowska B. Iwaniszewska A. Jakubiuk‐Tomaszuk W. Janczyk M. Krawczynski B. Salmonowicz M. Stelmach W. Mlynarski |
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| Affiliation: | 1. Department of Pediatrics, Oncology, Hematology and Diabetology, Lodz, Poland;2. Department of Clinical Genetics, Medical University of Lodz, Lodz, Poland;3. Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland;4. Department of Endocrinology for Children and Adolescents, Jagiellonian University, Cracow, Poland;5. Department of Pediatrics, Endocrinology and Neurology, Children's hospital, Torun, Poland;6. Outpatient Genetic Clinic, Bialystok, Poland;7. Department of Gastroenterology, Hepatology, Nutrition Disorders and Pediatrics, Warsaw, Poland;8. Department of Clinical Genetics, Medical University of Poznan, Poznan, Poland;9. Department of Pediatric Endocrinology, Wroclaw Medical University, Wroclaw, Poland |
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| Abstract: | Alström syndrome (AS) is a rare syndromic form of obesity and type 2 diabetes (T2D) in children coexisting with retinal dystrophy and disorders of many organs caused by the mutations in ALMS1 gene. Aim of this study was to identify the causative mutations in ALMS1 in a group of 12 patients of Polish origin with clinical symptoms of AS, and their 21 first‐degree relatives. Using DNA sequencing, nine different mutations including three novel were identified. These mutations were not present in 212 Polish individuals with no symptoms of AS, subjected to whole‐exome sequencing and collected in a national registry. Looking for genotype–phenotype relationships, we confirmed a severe phenotype in a boy with homozygous mutation in exon 16, and a relationship between a presence of T2D and mutations in exon 19. Evaluation of the type of mutation and its clinical effects gives hope for earlier diagnosis of AS in future patients and more advanced therapeutic approaches for patients with already diagnosed AS. |
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| Keywords: | ALMS1 gene Alströ m syndrome monogenic diabetes novel mutations |
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