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Cardiac magnetic resonance imaging in Alström syndrome [PDF]

Orphanet Journal of Rare Diseases, 2009
Background A case series of the cardiac magnetic resonance imaging findings in seven adult Alström patients. Methods Seven patients from the National Specialist Commissioning Group Centre for Alström Disease, Torbay, England, UK, completed the cardiac ...
Carey Catherine M, Bellenger Nicholas G, Loudon Margaret A, Paisey Richard B   +3 more
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A very early diagnosis of Alstrӧm syndrome by next generation sequencing

BMC Medical Genetics, 2020
Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin ...
Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli   +12 more
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Cardiac electrical system involvement in Alström syndrome: uncommon causes of dilated cardiomyopathies

Cardiogenetics, 2012
Alström syndrome is a rare autosomal recessive disorder with dilated cardiomyopathy in 60% of patients. Despite the frequency of cardiac involvement in Alström syndrome, conduction system abnormalities or arrhythmias have not been characterized
Richard J. Czosek, Paula Goldenberg, Erin M. Miller, Robert Spicer, Jeffrey A. Towbin, Stephanie M. Ware   +5 more
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Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Human Genome Variation, 2021
Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs ...
Natarajan N. Srikrupa, Sarangapani Sripriya, Suriyanarayanan Pavithra, Parveen Sen, Ravi Gupta, Sinnakaruppan Mathavan   +5 more
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Mouse models of ciliopathies: the state of the art

Disease Models & Mechanisms, 2012
The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS)
Dominic P. Norris, Daniel T. Grimes
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Identification of ACBP as a potential target in ciliopathic obesity through multi-omics network analysis

Nature Communications
Ciliopathies are genetic disorders characterized by defective primary cilia function, with obesity as a clinical manifestation in certain cases, including Alström syndrome, which is caused by ALMS1 mutations.
Yaiza Corral Nieto, Amanda Gabrielly Fernández Pereira, Laura Ventura-San Pedro, Sonia Belén Paredes, Ana Elena Pérez-Cobas, María Perez-Lanzon, Sylvere Durand, Paula Moreno-Cruz, Laura Manrique, Rocío Benítez-Fernández, Héctor Leal Lassalle, Yulia A. Nevzorova, Francisco Javier Cubero, Élida Alechaga, Oscar J. Pozo, Patricia Boya, José Manuel Fuentes, Valentina Sica, Guido Kroemer, José Manuel Bravo-San Pedro   +19 more
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Infantile Dilated Cardiomyopathy Diagnosed as Alstrom Syndrome in Later Childhood: A Report of Two Siblings

Indian Pediatrics Case Reports
Background: Alstrom syndrome is a rare autosomal recessive multisystem disorder due to a mutation in the ALMS1 gene, characterized by various combinations of dilated cardiomyopathy (DCM), cone-rod dystrophy, hearing loss, childhood obesity, Type 2 ...
Vimalarani Arulselvam, Suad Al Amer, Neale Nicola Kalis   +2 more
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Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line

Stem Cell Research, 2020
To develop a disease model for the human Alström Syndrome (AS), we used the episomal reprogramming system and CRISPR/Cas9 technology to generate an induced pluripotent stem cell (iPSC) line with the compound heterozygous patient mutation (ALMS1 c.3902C > 
Xiaoli Ji, Qingyuan Tang, Chuanqing Tang, Ziyan Wu, Ling Ma, Xiaohong Guo, Guoqiang Cheng, Yuejun Chen, Tong Yang, Man Xiong, Wenhao Zhou   +10 more
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MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

Case Reports in Genetics, 2011
There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of ...
Sheetal Sharda, Inusha Panigrahi, Ram Kumar Marwaha   +2 more
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A Case With Renal Failure, Hearing Loss and Double Ureters

Turkish Journal of Nephrology, 2019
In nephrology practice, the association of renal failure and deafness immediately brings to mind the Alport syndrome. However, in the differential diagnosis of deafness and renal failure a great number of syndromes ranging from Alport to Muckle-Wells ...
Kübra KAYNAR, Gülsüm ÖZKAN, Semih GÜL, Murat KAPUSUZ, Ümit ÇOBANOĞLU, Polat KOŞUCU, Şükrü ULUSOY   +6 more
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