Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy

Alström syndrome is a form of inherited obesity caused by a single gene abnormality and is inherited as an autosomal recessive trait. It is characterised by a variety of clinical manifestations, including progressive visual and hearing impairment, type 2 diabetes mellitus, dilated cardiomyopathy, an...

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Published inYonago acta medica Vol. 67; no. 2; pp. 93 - 99
Main Authors Hanaki, Keiichi, Kinoshita, Tomoe, Fujimoto, Masanobu, Sonoyama-Kawashima, Yuki, Kanzaki, Susumu, Namba, Noriyuki
Format Journal Article
LanguageEnglish
Published Japan YAM 01.05.2024
Subjects
Review : Special Contribution
cone-rod dystrophy
sensorineural hearing impairment
Alström syndrome
obesity
ciliopathy
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Summary:Alström syndrome is a form of inherited obesity caused by a single gene abnormality and is inherited as an autosomal recessive trait. It is characterised by a variety of clinical manifestations, including progressive visual and hearing impairment, type 2 diabetes mellitus, dilated cardiomyopathy, and hepatic and renal dysfunction, in addition to obesity. Recent insights underline the pivotal involvement of the disease-associated gene ( ) in cilia formation and function, leading to the classification of its clinical manifestations as a ciliopathy. This review delineates the diverse clinical indicators defining the syndrome and elucidates its pathological underpinnings.
Bibliography:ObjectType-Article-2
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ISSN:0513-5710
1346-8049
DOI:10.33160/yam.2024.05.010