OBJECTIVETo assess the value of genetic testing for Fragile X syndrome (FXS).

METHODSA domestically made diagnostic kit based Tri-primer-PCR method was used to detect mutations of the FMR1 gene among 6 pedigrees with unexplained intellectual disability. The results were verified by methylation PCR and Southern blotting.

RESULTSPedigrees 1 and 6 were positive for the screening. In pedigree 1, a full-mutation allele with methylation was identified in the proband and his mother, which was passed on to the fetus. In pedigree 6, the proband was mosaic for a full-mutation allele and a pre-mutation allele. His sister was asymptomatic with a full-mutation. His mother carried pre-mutation allele, while his father and sister's baby were normal. The number of CGG repeats of the pedigrees 2 to 5 were in the normal range.

CONCLUSIONGenetic testing can provide an effective way to prevent FXS caused by FMR1 mutations and enable prenatal diagnosis for families with a high risk for the disease.

Taste receptors guide individuals to consume nutrients while avoiding potentially noxious substances. Interestingly, recent studies have shown that taste receptors are also expressed beyond the taste buds, including brain, respiratory system, and digestive system, etc. These extragustatory taste receptors play important roles in microbial infection, nutrient uptake and host homeostasis. Mang extragustatory taste receptors have been proposed to sense microorganisms and regulate host innate defense. More importantly, polymorphisms of genes encoding taste receptor, particularly bitter taste receptor, are linked to different innate defensive responses. This review introduces the molecular basis of taste signal transduction, and the role of taste receptors in the regulation of innate immunity during microbial infection were further discussed in detail.

Fragile X syndrome (FXS) is the most common monogenic form of inherited intellectual disability and autism spectrum disorder (ASD). More than 99% of individuals with FXS are caused by the unstable expansion of CGG repeats located within the 5'-untranslated region of the FMR1 gene. The clinical features of FXS include various degrees of cognitive deficit, physical, behavioral and psychiatric problems. Early treatment and prevention from having further affected children can be guided by molecular genetic testing of the FMR1 gene. The following guideline has combined the relevant research, guidelines and consensus worldwide, and summarized the genetic knowledge and clinical treatment for FXS in order to achieve a standardized diagnosis, treatment and prevention for patients and families affected by this disease.
Child ; Humans ; Autism Spectrum Disorder/therapy* ; Fragile X Mental Retardation Protein/genetics* ; Fragile X Syndrome/therapy* ; Intellectual Disability/genetics*