Alstrom Syndrome with a Mutation in Exon8 (C.4746C > A) of Alstrom Syndrome Protein 1 Gene: The First Case Report and Literature Review
Journal Title: Journal of Diabetes and Obesity - Year 2017, Vol 4, Issue 2
Abstract
Alström syndrome (AS) is a rare, autosomal recessive disorder characterized by progressive cone-rod dystrophy, childhood obesity, sensorineural hearing impairment, type 2 diabetes, hypogonadism, and additional abnormalities. Herein we report a 29-year-old man with progressive cone-rod dystrophy, hearing impairment, liver cirrhosis, bilateral cryptorchidism with hypergonadotropic hypogonadism, and type2 diabetes. He had severe insulin resistance and required high-dose insulin to treat his hyperglycemia. Genetic testingrevealed a mutation in exon 8 (c.4746C > A) of the Alström syndrome protein 1 (ALMS1) gene and this is the first report of this mutation in AS. It is difficult to lead to correct diagnosis without genetic test, and physicians should suspect AS when patients show early onset visual dysfunction, obesity, or type 2 diabetes.
Authors and Affiliations
Masayasu Yoneda
Keywords
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- EP ID EP417860
- DOI 10.15436/2376-0494.17.1330
- Views 83
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