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脆性X综合征是遗传性智力障碍和孤独症谱系障碍最常见的单基因病，以X连锁不完全显性方式遗传。大约99%的脆性X综合征为FMR1基因CGG扩增动态突变导致，CGG扩增达到前突变或全突变时，可能出现相应的表型。近年来，脆性X综合征携带者筛查在我国逐渐开展起来，遗传咨询能力相对不足。为了更加规范地进行遗传咨询并提供后续生育指导，单基因病携带者筛查共识专家组、中华医学会医学遗传学分会遗传咨询学组通过多次讨论，对脆性X综合征携带者筛查的适用人群、检测前和检测后的遗传咨询内容形成了共识，并通过德尔菲法形成了推荐意见。
Abstract：Fragile X syndrome is the most common monogenic disorder causing inherited intellectual disability and autism spectrum disorder. It is inherited by an incomplete dominant X-linked fashion. Approximately 99% of fragile X syndrome is caused by the CGG trinucleotide repeat expansion of FMR1 gene, and the corresponding phenotype may appear when CGG expansion reaches pre-mutation or full mutation. Carrier screening of fragile X syndrome has been increasingly undertaken in China, yet the ability of genetic counselling is relatively insufficient. In order to conduct a more standardized genetic counselling and a better fertility guidance, the Consensus Expert Group on Carrier Screening for Monogenic Disorders and Genetic Counselling Group in Society of Medical Genetics, Chinese Medical Association have reached a consensus on the appropriate testing population and the content of pre-and post-test genetic counselling for fragile X syndrome through multiple rounds of discussion and Delphi procedure.
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基本信息:
中图分类号:R596.2
引用信息:
[1]戚庆炜,周希亚,常清贤,等.脆性X综合征携带者筛查遗传咨询专家共识[J].生殖医学杂志,2024,33(05):563-568.
基金信息:
国家重点研发计划(2021YFC1005304)
2024-01-13
2024
2024-04-01
2024
2024-01-24
1
2024-05-15
2024-05-15