Common-variant associations with fragile X syndrome
نویسندگان
چکیده
منابع مشابه
Associations of common polymorphisms in GCKR with metabolic syndrome
Background: Metabolic syndrome (MetS) is characterized by a combination of cardio-metabolic risk factors. Given that genetic factors have been shown to contribute to individual susceptibility to MetS, the identification of genetic markers for disease risk is essential. Recent studies revealed that rs780094 and rs1260326 of glucokinase regulatory gene (GCKR) are associated with serum triglycerid...
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Identifying atypical trajectories that distinguish children with differing developmental disorders from each other and from typically developing children is a potentially powerful tool for early ascertainment and treatment of syndrome specific proficiencies and deficiencies. The past decade has seen unparalleled advances in the fields of molecular genetics, pediatrics, developmental cognitive n...
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Fragile X syndrome, second only to Down syndrome among etiologies of mental retardation, was discussed. Clinical, intellectual, and anthropometric characteristics from 67 fragile X positive males, 35 fragile X positive females, and 27 obligate carriers among 29 families was presented. Regression analysis showed little correlation between level of intellect and frequency of fragile sites. The me...
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In 1986, a population study of school children in the city of Coventry gave an overall prevalence in males and females for fragile X syndrome of 1/952. The 29 children diagnosed as having fragile X syndrome in this study have been re-evaluated with molecular diagnostic techniques. Eighteen of the original 29 children have been found not to have the expansion of the FMR1 gene associated with fra...
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Objective: Fragile X syndrome is the second etiology for inherited mental retardation. It may concomitant with other psychiatric disorders. Intellectual disability (ID) is a state of functioning that typically begins in childhood and is characterized by limitations in intelligence and adaptive skills. We intend to introduce a male young patient with Fragile X syndrome and Obsessive-Compulsive d...
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ژورنال
عنوان ژورنال: Molecular Psychiatry
سال: 2018
ISSN: 1359-4184,1476-5578
DOI: 10.1038/s41380-018-0290-3