دورية أكاديمية
أعرض في EDS

Phenotypic variability to medication management: an update on fragile X syndrome.

التفاصيل البيبلوغرافية
العنوان: Phenotypic variability to medication management: an update on fragile X syndrome.
المؤلفون: Elhawary NA; Department of Medical Genetics, College of Medicine, Umm Al-Qura University, Mecca, 21955, Saudi Arabia. naelhawary@uqu.edu.sa., AlJahdali IA; Department of Community Medicine, College of Medicine, Umm Al-Qura University, Mecca, Saudi Arabia., Abumansour IS; Department of Medical Genetics, College of Medicine, Umm Al-Qura University, Mecca, 21955, Saudi Arabia., Azher ZA; Department of Medical Genetics, College of Medicine, Umm Al-Qura University, Mecca, 21955, Saudi Arabia., Falemban AH; Department of Pharmacology and Toxicology, College of Medicine, Umm Al-Qura University, Mecca, 24382, Saudi Arabia., Madani WM; Department of Hematology and Immunology, Faculty of Medicine, Umm Al-Qura University, Mecca, Saudi Arabia., Alosaimi W; Department of Hematology, Maternity and Children Hospital, Mecca, Saudi Arabia., Alghamdi G; Department of Medical Genetics, College of Medicine, Umm Al-Qura University, Mecca, 21955, Saudi Arabia., Sindi IA; Department of Biology, Faculty of Science, King Abdulaziz University, Jeddah, 21589, Saudi Arabia.; Preparatory Year Program, Batterjee Medical College, Jeddah, 21442, Saudi Arabia.
المصدر: Human genomics [Hum Genomics] 2023 Jul 07; Vol. 17 (1), pp. 60. Date of Electronic Publication: 2023 Jul 07.
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE
أسماء مطبوعة: Publication: 2012- : London : BioMed Central
Original Publication: London : Henry Stewart Publications, c2003-
مواضيع طبية MeSH: Fragile X Syndrome*/drug therapy , Fragile X Syndrome*/epidemiology , Fragile X Syndrome*/genetics , Autism Spectrum Disorder*/genetics, Male ; Humans ; Female ; DNA Methylation/genetics ; Mosaicism ; Biological Variation, Population ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism
مستخلص: This review discusses the discovery, epidemiology, pathophysiology, genetic etiology, molecular diagnosis, and medication-based management of fragile X syndrome (FXS). It also highlights the syndrome's variable expressivity and common comorbid and overlapping conditions. FXS is an X-linked dominant disorder associated with a wide spectrum of clinical features, including but not limited to intellectual disability, autism spectrum disorder, language deficits, macroorchidism, seizures, and anxiety. Its prevalence in the general population is approximately 1 in 5000-7000 men and 1 in 4000-6000 women worldwide. FXS is associated with the fragile X messenger ribonucleoprotein 1 (FMR1) gene located at locus Xq27.3 and encodes the fragile X messenger ribonucleoprotein (FMRP). Most individuals with FXS have an FMR1 allele with > 200 CGG repeats (full mutation) and hypermethylation of the CpG island proximal to the repeats, which silences the gene's promoter. Some individuals have mosaicism in the size of the CGG repeats or in hypermethylation of the CpG island, both produce some FMRP and give rise to milder cognitive and behavioral deficits than in non-mosaic individuals with FXS. As in several monogenic disorders, modifier genes influence the penetrance of FMR1 mutations and FXS's variable expressivity by regulating the pathophysiological mechanisms related to the syndrome's behavioral features. Although there is no cure for FXS, prenatal molecular diagnostic testing is recommended to facilitate early diagnosis. Pharmacologic agents can reduce some behavioral features of FXS, and researchers are investigating whether gene editing can be used to demethylate the FMR1 promoter region to improve patient outcomes. Moreover, clustered regularly interspaced palindromic repeats (CRISPR)/Cas9 and developed nuclease defective Cas9 (dCas9) strategies have promised options of genome editing in gain-of-function mutations to rewrite new genetic information into a specified DNA site, are also being studied.
(© 2023. The Author(s).)
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معلومات مُعتمدة: 23-MED-01 This work was technically and financially supported by the Batterjee Medical College, Jeddah, Saudi Arabia for publishing this work.; 23-MED-01 This work was technically and financially supported by the Batterjee Medical College, Jeddah, Saudi Arabia for publishing this work.
فهرسة مساهمة: Keywords: CGG trinucleotide repeat; CRISPR/Cas9; Clinical features; DNA methylation; FMR1 gene; Fragile X syndrome (FXS); Variable expressivity; dCas9
المشرفين على المادة: 0 (FMR1 protein, human)
139135-51-6 (Fragile X Mental Retardation Protein)
تواريخ الأحداث: Date Created: 20230707 Date Completed: 20230710 Latest Revision: 20231116
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC10329374
DOI: 10.1186/s40246-023-00507-2
PMID: 37420260
قاعدة البيانات: MEDLINE
الوصف
تدمد:1479-7364
DOI:10.1186/s40246-023-00507-2