Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome

2019 ◽  
Vol 182 (2) ◽  
pp. 279-288
Author(s):  
Kavitha Rethanavelu ◽  
Jasmine L. F. Fung ◽  
Jeffrey F. T. Chau ◽  
Steven L. C. Pei ◽  
Claudia C. Y. Chung ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Mutational Spectrum ◽  
Alström Syndrome ◽  
Alstrom Syndrome

Liver fibrosis is common in Alstrom syndrome and can be identified using non-invasive tests

2014 ◽  
Author(s):  
Jonathan Hazlehurst ◽  
Matthew Armstrong ◽  
Jayne Hodgkiss ◽  
Rachel Crowley ◽  
Tarekegn Geberhiwot ◽  
...  
Keyword(s):  
Liver Fibrosis ◽  
Non Invasive ◽  
Alström Syndrome ◽  
Alstrom Syndrome

scholarly journals Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders

2021 ◽  
Author(s):  
Yi Zhang ◽  
Tao Wang ◽  
Yan Wang ◽  
Kun Xia ◽  
Jinchen Li ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Neurodevelopmental Disorders ◽  
De Novo ◽  
Genetic Data ◽  
Chinese Patients ◽  
The Novel ◽  
Mutational Spectrum ◽  
Functional Variants ◽  
Public Data ◽  
Chromosomal Genes

AbstractNeurodevelopmental disorders (NDDs) are a group of diseases characterized by high heterogeneity and frequently co-occurring symptoms. The mutational spectrum in patients with NDDs is largely incomplete. Here, we sequenced 547 genes from 1102 patients with NDDs and validated 1271 potential functional variants, including 108 de novo variants (DNVs) in 78 autosomal genes and seven inherited hemizygous variants in six X chromosomal genes. Notably, 36 of these 78 genes are the first to be reported in Chinese patients with NDDs. By integrating our genetic data with public data, we prioritized 212 NDD candidate genes with FDR < 0.1, including 17 novel genes. The novel candidate genes interacted or were co-expressed with known candidate genes, forming a functional network involved in known pathways. We highlighted MSL2, which carried two de novo protein-truncating variants (p.L192Vfs*3 and p.S486Ifs*11) and was frequently connected with known candidate genes. This study provides the mutational spectrum of NDDs in China and prioritizes 212 NDD candidate genes for further functional validation and genetic counseling.

Hepatic dysfunction in two sibs with Alström syndrome: Case report and review of the literature

1997 ◽  
Vol 69 (1) ◽  
pp. 13-16 ◽  
Author(s):  
Midori Awazu ◽  
Tetsuya Tanaka ◽  
Seiji Sato ◽  
Makoto Anzo ◽  
Masataka Higuchi ◽  
...  
Keyword(s):  
Case Report ◽  
Hepatic Dysfunction ◽  
Review Of The Literature ◽  
Alström Syndrome ◽  
Alstrom Syndrome

scholarly journals Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients

Genes ◽  
2021 ◽  
Vol 12 (2) ◽  
pp. 282
Author(s):  
Brais Bea-Mascato ◽  
Carlos Solarat ◽  
Irene Perea-Romero ◽  
Teresa Jaijo ◽  
Fiona Blanco-Kelly ◽  
...  
Keyword(s):  
High Frequency ◽  
Haplotype Analysis ◽  
Genetic Diagnosis ◽  
Allelic Frequency ◽  
Structural Protein ◽  
Alström Syndrome ◽  
Pathogenic Variants ◽  
Novel Variants ◽  
Alstrom Syndrome

Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomatology involves nystagmus, type 2 diabetes mellitus (T2D), obesity, dilated cardiomyopathy (DCM), neurodegenerative disorders and multiorgan fibrosis. We refined the clinical and genetic diagnosis data of 12 patients from 11 families, all of them from Spain. We also studied the allelic frequency of the different variants present in this cohort and performed a haplotype analysis for the most prevalent allele. The genetic analysis revealed 2 novel homozygous variants located in the exon 8, p.(Glu929Ter) and p.(His1808GlufsTer20) in 2 unrelated patients. These 2 novel variants were classified as pathogenic after an in silico experiment (computer analysis). On the other hand, 2 alleles were detected at a high frequency in our cohort: p.(Tyr1714Ter) (25%) and p.(Ser3872TyrfsTer19) (16.7%). The segregation analysis showed that the pathogenic variant p.(Tyr1714Ter) in 3 families is linked to a rare missense polymorphism, p.(Asn1787Asp). In conclusion, 2 novel pathological mutations have been discovered in homozygosis, as well as a probable founder effect in 3 unrelated families.

Alström Syndrome With Subclinical Insulin-Resistant Diabetes and Hepatic Dysfunction: A Family Report

2000 ◽  
Vol 37 (3) ◽  
pp. 179-182
Author(s):  
Ping-I Chou ◽  
Chiao-Hong Chen ◽  
Jiann-Torng Chen ◽  
Liang-Yen Wen ◽  
Du-An Wu ◽  
...  
Keyword(s):  
Hepatic Dysfunction ◽  
Insulin Resistant ◽  
Alström Syndrome ◽  
Alstrom Syndrome

scholarly journals Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome

Eye ◽  
2008 ◽  
Vol 23 (5) ◽  
pp. 1210-1212 ◽  
Author(s):  
L Liu ◽  
B Dong ◽  
X Chen ◽  
J Li ◽  
Y Li
Keyword(s):  
Chinese Family ◽  
Alström Syndrome ◽  
Alstrom Syndrome

scholarly journals A review of Alström syndrome: a rare monogenic ciliopathy

2021 ◽  
Author(s):  
Avijoy Roy Choudhury ◽  
Ifeanyi Munonye ◽  
Kevin Paul Sanu ◽  
Nipa Islam ◽  
Cecilia Gadaga
Keyword(s):  
Alström Syndrome ◽  
Alstrom Syndrome

scholarly journals ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION

2006 ◽  
Vol 3 (1) ◽  
Author(s):  
Cahide Yılmaz ◽  
Hüseyin Çaksen ◽  
Nebi Yılmaz ◽  
Ahmet Sami Güven ◽  
Derya Arslan ◽  
...  
Keyword(s):  
Unusual Presentation ◽  
Alström Syndrome ◽  
Cerebral Involvement ◽  
Alstrom Syndrome
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