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Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families.
Orphanet J Rare Dis
January 2025
The Genetics and Prenatal Diagnosis Center, The Department of Obstetrics and Gynecology, The First Affiliated Hospital of Zhengzhou University, Jianshe Rd, Erqi District, Zhengzhou, 450052, Henan, China.
Objective: Spinal muscular atrophy (SMA) is a motor neuron disorder encompassing 5q and non-5q forms, causing muscle weakness and atrophy due to spinal cord cell degeneration. Understanding its genetic basis is crucial for genetic counseling and personalized treatment options.
Methods: This study retrospectively analyzed families of patients suspected of SMA at our institution from February 2006 to March 2024.
Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia.
J Genet Genomics
January 2025
Department of Medical Genetics and Center for Rare Diseases, the Second Affiliated Hospital of Zhejiang University School of Medicine, and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Hangzhou, Zhejiang 310009, China; Nanhu Brain-computer Interface Institute, Hangzhou, Zhejiang 311100, China; MOE Frontier Science Center for Brain Research and Brain-Machine Integration, School of Brain Science and Brain Medicine, Zhejiang University, Hangzhou, Zhejiang 310012, China; CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai 200031, China; Lead contact. Electronic address:
Hereditary spastic paraplegias (HSPs) refer to a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by the degeneration of motor neurons. To date, a significant number of patients still have not received a definite genetic diagnosis. Therefore, identifying unreported causative genes continues to be of great importance.
View Article and Find Full Text PDFNeuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.
Neurogenetics
January 2025
Department of Neuroscience and Behavioural Sciences, School of Medicine at Ribeirão Preto, University of São Paulo, Bandeirantes Av. 3900, Ribeirão Preto, São Paulo, 14040-900, Brazil.
Neuronal Ceroid Lipofuscinosis 11 (CLN11) is an ultra-rare subtype of adult-onset Neuronal Ceroid Lipofuscinosis. Its phenotype is variable and not fully known. A 21-year-old man was evaluated in our neurogenetic outpatient clinic for early onset complex phenotype, including learning difficulties, cerebellar ataxia, cone-rod dystrophy, epilepsy, and dystonia.
View Article and Find Full Text PDFVariability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
ERJ Open Res
January 2025
Department of Pediatrics and Center for Cystic Fibrosis, Hadassah University Medical Center, Hebrew University Hadassah Medical School, Jerusalem, Israel.
Background: People with cystic fibrosis (CF) variants that exhibit residual function (RF) of the CF transmembrane conductance regulator are considered to have a milder disease; however, the spectrum of CF phenotype within the different RF variants has not been extensively investigated. The aim of the present study was to characterise the spectrum of CF disease severity in people with CF (pwCF) carrying different RF variants, using the European Cystic Fibrosis Society Patient Registry (ECFSPR) data.
Methods: A retrospective cross-sectional and longitudinal cohort study included data from the ECFSPR during 2008-2016.
Genetic variants of the DNA repair gene: risk implications in breast cancer among Iraqi patients.
Prz Menopauzalny
December 2024
Faculty of Science, Department of Biology, University of Kufa, Kufa, Iraq.
Introduction: Breast cancer is the predominant form of malignancy among women. Polymorphisms in DNA repair genes, such as X-ray repair cross complementing 3 (XRCC3), can influence an individual's capability to repair damaged DNA. This can result in genetic instability and potentially contribute to the development of cancer.
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