Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene

Vafaeie, Farzane; Alerasool, Masoome; Mojaver, Nasrin Kaseb; Mojarrad, Majid

doi:10.7759/cureus.16340

Cited by 8 publications

(7 citation statements)

References 19 publications

(22 reference statements)

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“…The inclusion of subjects of both sexes is also important for studying FXS, both in human and preclinical research. Although FXS is more common in boys than girls, increasing attention has been devoted to heterozygous females, as they are the ones producing the affected offspring 26 , and they represent the majority of FXS female patients, as homozygous FMR1 mutations are extremely rare 27 . In humans, FXS female carriers present several behavioral symptoms, including hyperactivity 28 , mild cognitive impairments 29 , 30 and autistic behaviors 31 .…”

Section: Introductionmentioning

confidence: 99%

Autistic-like behavioral effects of prenatal stress in juvenile Fmr1 mice: the relevance of sex differences and gene–environment interactions

Petroni

Subashi

Premoli

et al. 2022

Sci Rep

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Fragile X Syndrome (FXS) is the most common heritable form of mental retardation and monogenic cause of autism spectrum disorder (ASD). FXS is due to a mutation in the X-linked FMR1 gene and is characterized by motor, cognitive and social alterations, mostly overlapping with ASD behavioral phenotypes. The severity of these symptoms and their timing may be exacerbated and/or advanced by environmental adversity interacting with the genetic mutation. We therefore tested the effects of the prenatal exposure to unpredictable chronic stress on the behavioral phenotype of juveniles of both sexes in the Fmr1 knock-out (KO) mouse model of FXS. Mice underwent behavioral tests at 7–8 weeks of age, that is, when most of the relevant behavioral alterations are absent or mild in Fmr1-KOs. Stress induced the early appearance of deficits in spontaneous alternation in KO male mice, without exacerbating the behavioral phenotype of mutant females. In males stress also altered social interaction and communication, but mostly in WT mice, while in females it induced effects on locomotion and communication in mice of both genotypes. Our data therefore highlight the sex-dependent relevance of early environmental stressors to interact with genetic factors to influence the appearance of selected FXS- and ASD-like phenotypes.

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Section: Introductionmentioning

confidence: 99%

Autistic-like behavioral effects of prenatal stress in juvenile Fmr1 mice: the relevance of sex differences and gene–environment interactions

Petroni

Subashi

Premoli

et al. 2022

Sci Rep

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“…Homozygous alleles are met in women born from consanguineous couples and are rare. [13] Over time researchers noticed abnormalities in functioning cells with loss of the FMR1 gene. They have become anchor points for further investigation of the mutation and its consequences in living organisms.…”

Section: Pathogenesismentioning

confidence: 99%

Fragile X syndrome - insight into what we know and prospects

STRZODA

KAMIŃSKA

STRZODA

et al. 2023

J Educ Health Sport

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Fragile X syndrome is a dominantly inherited genetic disease and is a consequence of the FMR1 gene mutation located on the X chromosome. The number of patients affected by this disease with full mutation is estimated at 1 in 4000 men and 1 in 8000 women, however, the number of carriers with premutation is far greater. Depending on the mutation of the FMR1 gene and levels of its products FMRP a variety of symptoms can be observed including- intellectual disability, mental retardation, lowered behavioral adaptation, autism, and dysmorphic features such as a long face with a broad forehead and prominent ears. The treatment is mostly symptomatic- managing comorbidities and an emphasis on psychological therapy. The objective of this paper is to sum up the most up-to-date knowledge regarding the pathogenesis, treatment- current and clinically tested, and novelties in the Fragile X syndrome

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“…The number of repeats may be considered normal, generate the premutation, or be the full mutation associated with the disorder. Consequently, the amount of FMRP produced is dependent on the number of repeats, with more repetitions producing less FMRP and resulting in a more severe condition [ 1 , 2 , 5 ]. Symptoms are not exhibited by individuals with the normal allele (5-44 repeats) and premutation allele (55-200 repeats) and are therefore not diagnosed with FXS.…”

Section: Reviewmentioning

confidence: 99%

“…Symptoms are not exhibited by individuals with the normal allele (5-44 repeats) and premutation allele (55-200 repeats) and are therefore not diagnosed with FXS. Individuals with the full mutation allele (>200) are diagnosed with FXS and experience a variety of symptoms and clinical features [ 5 ]. These clinical features can be subclassified into physical, psychological/psychiatric, and developmental issues.…”

Section: Reviewmentioning

confidence: 99%

Behavioral Problems in Fragile X Syndrome: A Review of Clinical Management

Davidson¹,

Sebastian²,

Benitez³

et al. 2022

Cureus

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Fragile X syndrome (FXS) is noted to be the leading cause of inherited intellectual disabilities and is caused by expansive cytosine-guanine-guanine (CGG) trinucleotide repeats in the fragile X mental retardation 1 gene (FMR1). FXS can display a wide range of behavioral problems in addition to intellectual and developmental issues. Management of these problems includes both pharmacological and nonpharmacological options and research on these different management styles has been extensive in recent years. This narrative review aimed to collate recent evidence on the various management options of behavioral problems in FXS, including the pharmacological and non-pharmacological treatments, and also to provide a review of the newer avenues in the FXS treatment.

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Fragile X Syndrome in a Female With Homozygous Full-Mutation Alleles of the FMR1 Gene

Cited by 8 publications

References 19 publications

Autistic-like behavioral effects of prenatal stress in juvenile Fmr1 mice: the relevance of sex differences and gene–environment interactions

Autistic-like behavioral effects of prenatal stress in juvenile Fmr1 mice: the relevance of sex differences and gene–environment interactions

Fragile X syndrome - insight into what we know and prospects

Behavioral Problems in Fragile X Syndrome: A Review of Clinical Management

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