Sielska Danuta, Milewski Michal, Bal Jerzy
Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17A, 01-211 Warszawa, Poland.
Med Wieku Rozwoj. 2002 Oct-Dec;6(4):295-308.
The fragile X syndrome is an X-linked genetic disorder; manifesting primarily as intellectual disability. The disease is caused by the absence of functional FMRP, a protein encoded by the FMR1 gene. The expansion of trinucleotide repeats within the first exon of the gene contributes to most cases of the syndrome. This review summarizes the present knowledge of the relationship between the molecular defect in the FMR1 gene and the clinical phenotype associated with disease.
脆性X综合征是一种X连锁遗传病，主要表现为智力障碍。该疾病是由功能性FMRP（一种由FMR1基因编码的蛋白质）缺失引起的。该基因第一个外显子内三核苷酸重复序列的扩增导致了大多数该综合征病例。本综述总结了目前关于FMR1基因分子缺陷与该疾病相关临床表型之间关系的知识。
