Results 41 to 50 of about 1,546 (135)

Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the ALMS1 gene [PDF]

Acta Ophthalmologica, 2017
AbstractPurposeWe aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone‐rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene.MethodsSeven patients with Alström syndrome (ALMS) were included in the study.
Nasser, Fadi, Weisschuh, Nicole, Maffei, Pietro, Milan, Gabriella, Heller, Corina, Zrenner, Eberhart, Kohl, Susanne, Kuehlewein, Laura   +7 more
openaire   +2 more sources

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population [PDF]

Diabetologia, 2006
Alström syndrome is a rare monogenic disorder characterised by retinal dystrophy, deafness and obesity. Patients also have insulin resistance, central obesity and dyslipidaemia, thus showing similarities with type 2 diabetes. Rare mutations in the ALMS1 gene cause severe gene disruption in Alström patients; however, ALMS1 gene polymorphisms are common ...
Patel S, Minton JAL, Weedon MN, Frayling TM, Ricketts C, Hitman GA, McCarthy MI, Hattersley AT, Walker M, Barrett TG   +9 more
openaire   +3 more sources

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

Frontiers in Genetics, 2020
Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however ...
Laura Mauring, Louise Frances Porter, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus, Helene Dollfus, Helene Dollfus, Jean Muller, Jean Muller   +13 more
doaj   +1 more source

ALSTRÖM SYNDROME CAUSED BY DELETION IN ALMS1 GENE FIXED IN A NORTHERN PAKISTAN RECURRENT HAPLOTYPE

Indian Journal of Case Reports, 2017
Reduced genetic variability in isolated populations promotes the prevalence of long contiguous stretches of homozygosity (LCSH) that may carry deleterious mutations, manifesting recessive syndromes such as Alstrom syndrome (OMIM # 203800), caused principally by mutations in exons 8, 10, and 16 and deletions/insertions along the ALMS1 gene. Here, Sanger
Carolina Monzo, Fatima Gimeno- Ferrer, Juan Carlos Ferrer Garcia, Alicia Amadoz, David Albuquerque, Francisco Barros Angueira, Goitzane Marcaida, Raquel Rodriguez- Lopez   +7 more
openaire   +2 more sources

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome

Frontiers in Genetics, 2023
Purpose: Alström syndrome (AS) is a rare autosomal recessive disorder caused by variants of ALMS1. The objectives of this study were to describe the clinical and genetic characteristics of 19 Chinese patients with biallelic variants in ALMS1.Methods: We ...
Jie Shi, Ke Xu, Xin Zhang, Yue Xie, Haoyu Chang, Yang Li   +5 more
doaj   +1 more source

Ocular evaluation and genetic test for an early Alström Syndrome diagnosis

American Journal of Ophthalmology Case Reports, 2020
Purpose: We present 3 cases of Alström syndrome (ALMS) that highlight the importance of the ophthalmic exam, as well as the diagnostic challenges and management considerations of this ultra-rare disease.
Tyler Etheridge, Elizabeth R. Kellom, Rachel Sullivan, James N. Ver Hoeve, Melanie A. Schmitt   +4 more
doaj   +1 more source

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants

BMC Ophthalmology, 2019
Background Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes.
Maria F. Shurygina, Maria A. Parker, Catie L. Schlechter, Rui Chen, Yumei Li, Richard G. Weleber, Paul Yang, Mark E. Pennesi   +7 more
doaj   +1 more source

Clinical exome sequencing facilitates the understanding of genetic heterogeneity in Leber congenital amaurosis patients with variable phenotype in southern India

Eye and Vision, 2021
Background Leber congenital amaurosis (LCA), primarily characterized by retinal degeneration is the most severe form of inherited retinal dystrophy (IRD) responsible for congenital blindness.
Sriee Viswarubhiny, Rupa Anjanamurthy, Ayyasamy Vanniarajan, Devarajan Bharanidharan, Vijayalakshmi Perumalsamy, Periasamy Sundaresan   +5 more
doaj   +1 more source

Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action [PDF]

International Journal of Obesity, 2010
Alström syndrome is a rare genetic syndrome associated with early-onset obesity, severe insulin resistance (IR) that is disproportionate to the degree of adiposity and premature diabetes. The ALMS1 gene, which is mutated in Alström syndrome, encodes a giant 460 kDa centrosome- and basal body-associated protein.
I, Huang-Doran, R K, Semple
openaire   +2 more sources

Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy

Orphanet Journal of Rare Diseases, 2022
Objective Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder that is caused by homozygous or compound heterozygous mutation in the ALMS1 gene. Dilated cardiomyopathy (DCM) is one of the well-recognized features of the syndrome ranging
Savas Dedeoglu, Elif Dede, Funda Oztunc, Asuman Gedikbasi, Gozde Yesil, Reyhan Dedeoglu   +5 more
doaj   +1 more source