Fragile X syndrome: A review of clinical management

Lozano, Reymundo; Azarang, Atoosa; Wilaisakditipakorn, Tanaporn; Hagerman, Randi J.

doi:10.5582/irdr.2016.01048

Cited by 81 publications

(87 citation statements)

References 147 publications

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“…Fragile X syndrome: Classically, fragile X syndrome (MIM 300624)-affected boys show developmental delay, intellectual disability, abnormal behavior/autism spectrum disorder, prominent forehead and jaw, large ears, macroorchidism, mitral valve prolapse, strabismus and joint laxity (57,58). Heterozygous girls can also exhibit these features, but in a milder presentation.…”

Section: Monogenic Formsmentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: Diagnostic and therapeutic approach of tall stature

Albuquerque

Scalco

Jorge

2017

European Journal of Endocrinology

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Tall stature is defined as a height of more than 2 standard deviations (s.d.) above average for same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal disorders leading to abnormal growth are excluded. However, the majority of these patients have familial tall stature or constitutional advance of growth (generally associated with obesity), both of which are diagnoses of exclusion. It is necessary to have familiarity with a large number of rarer overgrowth syndromes, especially because some of them may have severe complications such as aortic aneurysm, thromboembolism and tumor predisposition and demand-specific follow-up approaches. Additionally, endocrine disorders associated with tall stature have specific treatments and for this reason their recognition is mandatory. With this review, we intend to provide an up-to-date summary of the genetic conditions associated with overgrowth to emphasize a practical diagnostic approach of patients with tall stature and to discuss the limitations of current growth interruption treatment options.

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Section: Monogenic Formsmentioning

confidence: 99%

MANAGEMENT OF ENDOCRINE DISEASE: Diagnostic and therapeutic approach of tall stature

Albuquerque

Scalco

Jorge

2017

European Journal of Endocrinology

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“…A full mutation (>200 CGG repeats) at the FMR1 locus causes gene silencing and the loss of the protein product, FMRP, which causes the loss of synaptic plasticity and the fragile X pathology. Fragile X biology has been the subject of numerous and up-to-date reviews to which we direct the reader for a comprehensive understanding of the disease etiology, mechanism, and intervention (Ligsay and Hagerman 2016; Lozano et al 2016; Santoro et al 2012; Wang et al 2012; Zhao and Usdin 2016). …”

Section: 2 Early History Of Chromosome Fragile Site Discoveries Rementioning

confidence: 99%

Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites

Feng

Chakraborty

2017

Advances in Experimental Medicine and Biology

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Chromosome fragile sites are a fascinating cytogenetic phenomenon now widely implicated in a slew of human diseases ranging from neurological disorders to cancer. Yet, the paths leading to these revelations were far from direct, and the number of fragile sites that have been molecularly cloned with known disease-associated genes remains modest. Moreover, as more fragile sites were being discovered, research interests in some of the earliest discovered fragile sites ebbed away, leaving a number of unsolved mysteries in chromosome biology. In this review we attempt to recount some of the early discoveries of fragile sites and highlight those phenomena that have eluded intense scrutiny but remain extremely relevant in our understanding of the mechanisms of chromosome fragility. We then survey the literature for disease association for a comprehensive list of fragile sites. We also review recent studies addressing the underlying cause of chromosome fragility while highlighting some ongoing debates. We report an observed enrichment for R-loop forming sequences in fragile site-associated genes than genomic average. Finally, we will leave the reader with some lingering questions to provoke discussion and inspire further scientific inquiries.

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“…Delayed myelination has often been reported in children exhibiting developmental delay, epilepsy, and comorbid disorders like ASD and ADHD . Delayed white matter growth has been documented in a mouse model of fragile X syndrome, a disorder characterized by seizures and autistic symptoms including developmental delay . Importantly, however, these and similar studies have not been designed to determine whether the delay is secondary to the presence of seizures or whether it contributes to the pathogenesis associated with seizure vulnerability.…”

Section: Discussionmentioning

confidence: 99%