Results 31 to 40 of about 1,617 (137)
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 +5 more
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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 +5 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2021 Background Familial hypertrophic cardiomyopathy is a common inherited cardiovascular disorder in people. Many causal mutations have been identified, but about 40% of cases do not have a known causative mutation. Mutations in the ALMS1 gene are associated
Kathryn M. Meurs +9 more
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Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report [PDF]
Experimental and Clinical Endocrinology & Diabetes Reports, 2017 Abstract Objective To report novel mutations of ALMS1 and evaluate clinical characteristics in the Chinese Child with Alstrom syndrome (ALMS). Methods The Child and his parents were examined clinically and venous blood was collected. ALMSl gene analysis was carried out using DNA Sanger sequencing.
Lanrong Liu, Hong Li, Lixin Shi
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Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria [PDF]
European Journal of Medical Genetics, 2014 We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. The Alströms gene (ALMS1) is very large (23 exons) and diagnostic testing of mutational hotspots (exon 6, 8 and 10) was negative ...
Jillian, Casey +6 more
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High Prevalence Mutations in ALMS1 in Spanish Alström Patients [PDF]
, 2020 Abstract Background:Alström syndrome (ALMS) is a rare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes.
Brais Bea Mascato +6 more
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HCM‐associated ALMS1 variant: Allele drop‐out and frequency in Italian Sphynx cats
Animal Genetics, 2023 AbstractHypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy in domestic cats, and some inherited variants are available for genetic testing. A variant of the Alstrom syndrome protein 1 gene (ALMS1) was recently reported to be associated with HCM in the Sphynx cat breed (A3: g.92439157G>C).
M. E. TURBA +4 more
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Frontiers in Pediatrics, 2021 Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease.
Omar I. Saadah +18 more
doaj +1 more source
The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy [PDF]
Journal of Medical Genetics, 2005 As part of a clinical study of Alstrom syndrome (MIM 203800) we sequentially ascertained seven families. Four of the families, pedigrees A–D (table 1), were consanguineous. In total there were 16 living affected individuals, aged 3–25 years. All had cone rod dystrophy that presented in the first 3 months of life with photophobia and nystagmus. The cone
Bond, J +24 more
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