The sizes of the fragile X mutation in 33 sib pairs affected with fragile X syndrome were determined by Southern blot analysis. An age-dependent decrease in the size of the mutation was found, suggesting positive selection of blood cells carrying small mutations during life or maternal imprinting.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1399-0004.1993.tb04462.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Altered olfactory responses in Fmr1 KO mice.
Sci Rep
January 2025
The Department of Cellular and Integrative Physiology, The University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
Fragile X syndrome (FXS) is a neurodevelopmental disorder oftentimes associated with abnormal social behaviors and altered sensory responsiveness. It is hypothesized that the inappropriate filtering of sensory stimuli, including olfaction, can lead to aberrant social behavior in FXS. However, previous studies investigating olfaction in animal models of FXS have shown inconsistent results.
View Article and Find Full Text PDFBiochemical characterization of collagen I in Warmblood Fragile Foal Syndrome horse lysyl hydroxylase 1 mutation.
MicroPubl Biol
January 2025
Department of Molecular Medicine, College of Veterinary Medicine, Cornell University, Ithaca, New York, United States.
Mutations in the collagen-modifying enzyme lysyl hydroxylase 1 (LH1) cause Warmblood Fragile Foal Syndrome (WFFS) in horses. We investigated the impact of this mutation on collagen structure and function. Our results show that LH1 deficiency leads to reduced lysine hydroxylation, altered collagen fibril organization, and tissue abnormalities resembling human Ehlers-Danlos syndrome.
View Article and Find Full Text PDFNovel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report.
Case Rep Genet
January 2025
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, 2825 50th Street, Davis, Sacramento 95817, California, USA.
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5'UTR (untranslated region) of (Fragile X Messenger Ribonucleoprotein 1) causing promoter methylation and transcriptional silencing. However, not all patients presenting with the characteristic phenotype and point/frameshift mutations with deletions in have been described in the literature.
View Article and Find Full Text PDFHyperintense lesions of the middle cerebellar peduncle and beyond: a pictorial essay.
Radiol Bras
January 2025
Faculdade de Ciências Médicas da Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brazil.
The middle cerebellar peduncle (MCP) is the largest afferent system of the cerebellum and consists of fibres from the cortico-ponto-cerebellar tract. Specifically, several relevant diseases can present with hyperintensity in the MCP on T2-weighted/fluid-attenuated inversion recovery (T2/FLAIR) magnetic resonance imaging sequences, including multiple sclerosis; acute disseminated encephalomyelitis; neuromyelitis optica spectrum disorder; progressive multifocal leucoencephalopathy; hepatic encephalopathy; osmotic demyelination syndrome; multiple system atrophy; fragile X-associated tremor/ataxia syndrome; megalencephalic leucoencephalopathy with subcortical cysts; spinocerebellar ataxias; hemi-pontine infarct with trans-axonal degeneration; and diffuse midline glioma with the histone H3K27M mutation. The aim of this pictorial review is to discuss the imaging findings that are relevant for the differential diagnosis of diseases presenting with MCP hyperintensity on T2/FLAIR sequences.
View Article and Find Full Text PDFBeyond base pairs: Using simulation to build genomic competency in pediatric nurse practitioners.
J Pediatr Nurs
January 2025
William F. Connell School of Nursing, Boston College, Chestnut Hill, MA 02467, United States of America. Electronic address:
Genomics is a lifespan competency that has relevance for pediatric nursing practice. Identifying individuals who could benefit from genomic healthcare can enable timely diagnosis and treatment to improve health and wellbeing outcomes. Nurse practitioners (NPs) must have genomic competency to provide high quality, comprehensive pediatric care and support families through the continuum of care.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!