Genetic and prenatal diagnosis of a Chinese pedigree with autosomal recessive Wolfram syndrome 1 due to compound heterozygous variants of WFS1 gene
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):698-702. doi: 10.3760/cma.j.cn511374-20210603-00469. ABSTRACT OBJECTIVE: To explore the genetic pathogenicity for a Chinese pedigree affected with severe syndromic deafness. METHODS: High-throughput sequencing was carried out to analyze the 415 genes associated with hereditary deafness in the proband who has hearing loss in association with optic […]
Diagnosis of Parkinson syndrome and Lewy-body disease using 123I-ioflupane images and a model with image features based on machine learning
Ann Nucl Med. 2022 Aug;36(8):765-776. doi: 10.1007/s12149-022-01759-z. Epub 2022 Jul 7. ABSTRACT OBJECTIVES: 123I-ioflupane has been clinically applied to dopamine transporter imaging and visual interpretation assisted by region-of-interest (ROI)-based parameters. We aimed to build a multivariable model incorporating machine learning (ML) that could accurately differentiate abnormal profiles on 123I-ioflupane images and diagnose Parkinson syndrome or […]
Wolfram syndrome with a rare genetic mutation – Case report
Indian J Ophthalmol. 2022 Jul;70(7):2755-2757. doi: 10.4103/ijo.IJO_1301_21. NO ABSTRACT PMID:35791237 | PMC:PMC9426068 | DOI:10.4103/ijo.IJO_1301_21
Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision
Curr Diab Rep. 2022 Sep;22(9):423-432. doi: 10.1007/s11892-022-01483-y. Epub 2022 Jul 5. ABSTRACT PURPOSEOF REVIEW: This review aims to provide an update on the etiologies of diabetes that are due to genetic disorders and that co-occur with impaired hearing or vision and to compare them. The potential mechanisms, including novel treatments, will be detailed. RECENT FINDINGS: […]
Dysregulated Ca2+ Homeostasis as a Central Theme in Neurodegeneration: Lessons from Alzheimer’s Disease and Wolfram Syndrome
Cells. 2022 Jun 18;11(12):1963. doi: 10.3390/cells11121963. ABSTRACT Calcium ions (Ca2+) operate as important messengers in the cell, indispensable for signaling the underlying numerous cellular processes in all of the cell types in the human body. In neurons, Ca2+ signaling is crucial for regulating synaptic transmission and for the processes of learning and memory formation. Hence, […]
Two cases of Wolfram syndrome
Zhonghua Yan Ke Za Zhi. 2022 Oct 11;58(10):799-802. doi: 10.3760/cma.j.cn112142-20220608-00287. ABSTRACT Two adolescents with T1DM participated in the Shanghai Children and Adolescent DM Eye study (SCADE) 2017-2018. The previous T1DM history of the 2 children were 12 years and 4 years respectively. The history of optic atrophy were 8 years and 4 years respectively. The […]
Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome
JCI Insight. 2022 Sep 22;7(18):e156549. doi: 10.1172/jci.insight.156549. ABSTRACT Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested by diabetes mellitus, optic nerve atrophy, and progressive neurodegeneration. Recent genetic and clinical findings have revealed Wolfram syndrome as a spectrum disorder. Therefore, a genotype-phenotype correlation analysis is needed […]
Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism – A case report
J Pediatr Endocrinol Metab. 2022 Sep 15;35(12):1552-1555. doi: 10.1515/jpem-2022-0268. Print 2022 Dec 16. ABSTRACT OBJECTIVES: Wolfram syndrome (WFS) is a rare neurodegenerative disease. Clinical diagnosis is made when nonautoimmune insulin-dependent diabetes is found to be associated with bilateral optic atrophy in a patient early in life. Frequent associations include diabetes insipidus, diabetes mellitus, optic atrophy […]
Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings
Invest Ophthalmol Vis Sci. 2022 Sep 1;63(10):9. doi: 10.1167/iovs.63.10.9. ABSTRACT PURPOSE: To identify the missing heritability of patients with Wolfram syndrome 1 (WFS1) in a Chinese cohort and to report their clinical and genetic features. METHODS: We recruited 24 unrelated patients with suspected WFS1 who carried at least one variant in WFS1. All patients underwent […]
A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1
Ophthalmic Genet. 2022 Sep 12:1-9. doi: 10.1080/13816810.2022.2113546. Online ahead of print. ABSTRACT BACKGROUND: Wolfram syndrome type 1 is a rare neurodegenerative disorder including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable additional findings. The phenotypic spectrum is very heterogeneous, with non-autoimmune juvenile-onset diabetes and optic atrophy as minimal criteria for the diagnosis. Biallelic […]