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Clinical and Molecular Genetic Characterization of a Female with Fragile X Syndrome and Two Expanded Alleles: A Case Report [PDF]

Journal of Basic Research in Medical Sciences
Fragile X syndrome is a genetic condition causing a range of developmental problems, with males more severely affected compared to female patients. The main features include a long and narrow face, large ears, and a prominent jaw and forehead.
Ahoura Nozari, mahdieh Hassani, Javad Karimzad Hagh, Alireza Sadeghi, Narges Jalilian   +4 more
doaj   +1 more source

Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders

Frontiers in Genetics, 2014
The Fragile X-related disorders are a group of genetic conditions that include the neurodegenerative disorder, Fragile X-associated tremor and ataxia syndrome (FXTAS), the fertility disorder, Fragile X-associated primary ovarian insufficiency (FXPOI) and
Karen eUsdin, Bruce Eliot Hayward, Daman eKumari, Rachel Adihe Lokanga, Rachel Adihe Lokanga, Nicolas eSciascia, Xiao-Nan eZhao   +6 more
doaj   +1 more source

Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome

Heliyon, 2019
Background: Fragile X-associated tremor/ataxia syndrome is a late-onset neurodegenerative disorder that affects about 40% of carriers of CGG-repeat expansions in the premutation range within the fragile X gene (FMR1).
Giuseppe Bonapace, Rosa Gullace, Daniela Concolino, Grazia Iannello, Radha Procopio, Monica Gagliardi, Gennarina Arabia, Gaetano Barbagallo, Angela Lupo, Lucia Ilaria Manfredini, Grazia Annesi, Aldo Quattrone   +11 more
doaj   +1 more source

An Emerging Role for Post-translational Modifications in Regulating RNP Condensates in the Germ Line

Frontiers in Molecular Biosciences, 2021
RNA-binding proteins undergo regulated phase transitions in an array of cell types. The phase separation of RNA-binding proteins, and subsequent formation of RNP condensates or granules, occurs during physiological conditions and can also be induced by ...
Jennifer A. Schisa, Mohamed T. Elaswad
doaj   +1 more source

A Chinese case of fragile X-associated tremor/ataxia syndrome (FXTAS) with orthostatic tremor:case report and literature review on tremor in FXTAS

BMC Neurology, 2020
Background Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset, X-linked genetic, neurodegenerative disorder caused by a “premutation (PM)” in the fragile X mental retardation 1 (FMR1) gene. Here we report a case of FXTAS from mainland of
Cuiping Zhao, Yiming Liu, Yihua Wang, Hongyan Li, Bin Zhang, Yaoxian Yue, Jianyuan Zhang   +6 more
doaj   +1 more source

Long Noncoding RNA Can Be a Probable Mechanism and a Novel Target for Diagnosis and Therapy in Fragile X Syndrome

Frontiers in Genetics, 2019
Fragile X syndrome (FXS) is the most common congenital hereditary disease of low intelligence after Down syndrome. Its main pathogenic gene is fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, autism, and fragile X ...
Ge Huang, He Zhu, Shuying Wu, Manhua Cui, Tianmin Xu   +4 more
doaj   +1 more source

Repeat-mediated epigenetic dysregulation of the FMR1 gene in the Fragile X-related disorders

Frontiers in Genetics, 2015
The Fragile X-related disorders are members of the Repeat Expansion Diseases, a group of genetic conditions resulting from an expansion in the size of a tandem repeat tract at a specific genetic locus.
Karen eUsdin, Daman eKumari
doaj   +1 more source

Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene

Frontiers in Molecular Biosciences, 2020
The X-linked FMR1 premutation (PM) is characterized by a 55–200 CGG triplet expansion in the 5′-untranslated region (UTR). Carriers of the PM were originally thought to be asymptomatic; however, they may present general neuropsychiatric manifestations ...
Eleonora Napoli, Yingratana Amabel McLennan, Andrea Schneider, Andrea Schneider, Flora Tassone, Flora Tassone, Randi J. Hagerman, Randi J. Hagerman, Cecilia Giulivi, Cecilia Giulivi   +9 more
doaj   +1 more source

FMRP Associates with Cytoplasmic Granules at the Onset of Meiosis in the Human Oocyte.

PLoS ONE, 2016
Germ cell development and primordial follicle formation during fetal life is critical in establishing the pool of oocytes that subsequently determines the reproductive lifespan of women.
Roseanne Rosario, Panagiotis Filis, Victoria Tessyman, Hazel Kinnell, Andrew J Childs, Nicola K Gray, Richard A Anderson   +6 more
doaj   +1 more source

A mouse model of the fragile X premutation: Effects on behavior, dendrite morphology, and regional rates of cerebral protein synthesis

Neurobiology of Disease, 2011
Carriers of FMR1 premutation alleles have 55–200 CGG repeats in the 5′ untranslated region of the gene. These individuals are at risk for fragile X associated primary ovarian insufficiency (females) and, in late life, fragile X associated tremor and ...
Mei Qin, Ali Entezam, Karen Usdin, Tianjian Huang, Zhong-Hua Liu, Gloria E. Hoffman, Carolyn B. Smith   +6 more
doaj   +1 more source