Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy-Reference-Cited by-同舟云学术

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

Published:2024 Issue:2 Volume:67 Page:93-99
ISSN:1346-8049
Container-title:Yonago Acta Medica
language:en
Short-container-title:Yonago Acta Med.

Author:

Hanaki Keiichi¹²,Kinoshita Tomoe²³,Fujimoto Masanobu²,Sonoyama-kawashima Yuki²⁴,Kanzaki Susumu²⁵,Namba Noriyuki²

Affiliation:

1. School of Health Sciences, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan

2. Division of Perinatology and Pediatrics, Department of Multidisciplinary Internal Medicine, School of Medicine, Faculty of Medicine, Tottori University, Yonago 683-8503, Japan

3. Division of Pediatrics, Tottori Red Cross Hospital, Tottori 680-8517, Japan

4. Department of Pediatrics, Shimane University Faculty of Medicine, Izumo 693-8501, Japan

5. Asahigawasou Rehabilitation and Medical Center, Okayama 703-8555, Japan

Publisher

Tottori University Faculty of Medicine

Link

https://www.jstage.jst.go.jp/article/yam/67/2/67_2024.05.010/_pdf

Reference52 articles.

1. 1. #203800 Alström syndrome. An Online Catalog of Human Genes and Genetic Disorders [Internet]. Baltimore: Johns Hopkins University; c1966-2024 [updated 2023 Mar 10; cited 2024 Mar 12]. Available from: https://omim.org/entry/203800

2. 2. Alström CH, Hallgren B, Nilsson LB, Asander H. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness. A specific syndrome distinct from Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand, Suppl. 1959;129:1-35. PMID:13649370

3. 3. Minton JAL, Owen KR, Ricketts CJ, Crabtree N, Shaikh G, Ehtisham S, et al. Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome. J Clin Endocrinol Metab. 2006;91:3110-6. PMID:16720663, DOI:10.1210/jc.2005-2633

4. 4. Marshall JD, Maffei P, Collin GB, Naggert JK. Alström syndrome: genetics and clinical overview. Curr Genomics. 2011;12:225-35. PMID:22043170, DOI:10.2174/138920211795677912

5. 5. Bdier AY, Al-Qahtani FA, Kumar Verma P, Alshoaibi NA, Mohammed Alrayes N, Shaik NA, et al. A novel homozygous ALMS1 protein truncation mutation (c.2938dupA) revealed variable clinical expression among Saudi Alström syndrome patients. Arch Med Sci. 2020;100635. DOI:10.5114/aoms.2020.100635