Results 1 to 10 of about 1,526 (115)

New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome [PDF]

BMC Ophthalmology, 2022
Purpose Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS.
Wan-Yu Cheng, Mei-Jiao Ma, Shi-Qin Yuan, Xiao-long Qi, Wei-Ning Rong, Xun-Lun Sheng   +5 more
doaj   +4 more sources

A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat [PDF]

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, Brian G. Williams, Dylan DeProspero, Steven G. Friedenberg, David E. Malarkey, J. Ashley Ezzell, Bruce W. Keene, Darcy B. Adin, Teresa C. DeFrancesco, Sandra Tou   +9 more
doaj   +5 more sources

New variants of ALMS1 gene and familial Alström syndrome case series [PDF]

Brazilian Journal of Otorhinolaryngology
Objectives: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome.
Isabela Carvalho de Queiroz, Natália Carasek, Luiza Costa Villela Ferreira, Lucas Alves Teixeira Oliveira, Fernando Massa Correia, Thaís Gomes Abrahão Elias, Fayez Bahmad, Jr   +6 more
doaj   +4 more sources

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families [PDF]

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, Omar I. Saadah, Babajan Banaganapalli, Babajan Banaganapalli, Naglaa M. Kamal, Naglaa M. Kamal, Ahmed N. Sahly, Ahmed N. Sahly, Hadeel A. Alsufyani, Arif Mohammed, Aftab Ahmad, Khalidah Khalid Nasser, Khalidah Khalid Nasser, Jumana Y. Al-Aama, Jumana Y. Al-Aama, Noor Ahmad Shaik, Noor Ahmad Shaik, Ramu Elango, Ramu Elango   +18 more
doaj   +5 more sources

Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report [PDF]

BMC Pediatrics
Background Alström syndrome (AS) is a rare autosomal recessive disorder that leads to multiple organ fibrosis and failure. Precise diagnosis from the clinical symptoms is challenging due to its highly variabilities and its frequent confusion with other ...
Ming Hu, Shuang Chen, Jinyuan Wu, Rong Wang   +3 more
doaj   +4 more sources

Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome [PDF]

BMC Medical Genetics, 2017
Background Alström syndrome is a rare multi-systemic disorder with a broad spectrum of symptoms. This syndrome is characterized by childhood retinal degeneration; sensorineural hearing loss; obesity; type 2 diabetes mellitus; cardiomyopathy; systemic ...
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
doaj   +5 more sources

Endocrine metabolism characteristics of Alström syndrome in 25 Chinese patients and identification of a new splice site in the ALMS1 gene [PDF]

Diabetology & Metabolic Syndrome
Background Alström syndrome is a serious monogenic rare disease with lacking systematic analyses of its endocrine and metabolic characteristics. Method Clinical data were obtained from Alström syndrome, and group comparison analyses were conducted. Whole
Huifang Peng, Kailu Li, Bingjie Xue, Yuting Wu, Yu Guo, Xin Cheng, Liujun Fu, Hongwei Jiang   +7 more
doaj   +3 more sources

Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome. [PDF]

Intern Med, 2021
Objective Alström syndrome is an autosomal recessive genetic disease caused by a mutation in the ALMS1 gene. Alström syndrome is clinically characterized by multisystem involvement, including sensorineural deafness, cone-rod dystrophy, nystagmus, obesity, insulin resistance, type 2 diabetes and hypogonadism.
Wang C, Luo X, Wang Y, Liu Z, Wu S, Wang S, Lan X, Xu Q, Xu W, Yuan F, Wang A, Zeng F, Jia J, Chen Y.   +13 more
europepmc   +4 more sources

Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family. [PDF]

Mol Genet Genomic Med, 2023
AbstractBackgroundAlström syndrome (AS) represents an exceptionally rare genetic disorder characterized by a constellation of features including cardiomyopathy, progressive hearing and vision impairment, as well as obesity. This study seeks to elucidate the genetic underpinnings of this syndrome within the Saudi Arabian population.MethodsEmploying an ...
Abosabie SAS, Abosabie SA, Alfaifi J, Alqahtani YA, Shati AA, Alotaibi NA, Alghamdi OA, Alotaibi GN, Baabdullah AA, Kabrah LK, Kamal NM, Oshi MAM, Abdallah EAA.   +12 more
europepmc   +3 more sources

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts [PDF]

EBioMedicine, 2021
Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht, Elizabeth Forsythe, Helen May-Simera, Mariya Moosajee   +3 more
doaj   +4 more sources