Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation.
Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation.
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DOI：
10.1002/ajmg.a.33446
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发表时间：
2011-03
影响因子：
2
通讯作者：
Tassone, Flora
中科院分区：
文献类型：
--
作者：
Basuta, Kirin;Narcisa, Vivien;Chavez, Alyssa;Kumar, Madhur;Gane, Louise;Hagerman, Randi;Tassone, Flora
脆性X智力低下（FMR 1）基因中含有55-200 CGG重复的等位基因的个体是前突变携带者。前突变等位基因已被证明导致许多类型的临床参与，包括害羞，焦虑，社交缺陷，注意缺陷多动障碍（ADHD）和执行功能缺陷。这些问题中的一些可能是由于脆性X蛋白（FMRP）的轻度缺陷和在携带者中观察到的FMR 1 mRNA升高的可能发育影响。此外，两个异常的表型特定的前突变已被描述。原发性卵巢功能不全（FXPOI），定义为40岁之前月经停止，发生在20%的女性与前突变。另一种表型，脆性X相关震颤/共济失调综合征（FXTAS），影响一些老年人前突变携带者。突变前女性通常有一个扩增等位基因（≥ 55 CGG重复）和一个正常等位基因（≤ 54 CGG重复）。这项研究描述了一名在前突变范围内具有两个等位基因（60和67个CGG重复）的女性与她具有相似前突变大小（65个CGG重复）的兄弟相比的认知、行为和分子特征。两人都表现出高智商、焦虑和一些与脆性X综合征相关的身体特征。这种比较使我们能够在控制环境和背景遗传因素的同时，检查这对男女中前突变的影响。
Individuals with alleles containing 55–200 CGG repeats in the fragile X mental retardation (FMR1) gene are premutation carriers. The premutation allele has been shown to lead to a number of types of clinical involvement, including shyness, anxiety, social deficits, attention deficit hyperactivity disorder (ADHD) and executive function deficits. Some of these problems could be due to mild deficits of the fragile X protein (FMRP) and a possible developmental effect of the elevated FMR1 mRNA observed in carriers. In addition, two abnormal phenotypes specific to the premutation have been described. Primary ovarian insufficiency (FXPOI), defined by cessation of menses prior to age 40, occurs in 20% of females with the premutation. The other phenotype, fragile X-associated tremor/ataxia syndrome (FXTAS), affects some older adult premutation carriers. Premutation females typically have one expanded allele (≥ 55 CGG repeats) and one normal allele (≤ 54 CGG repeats). This study describes the cognitive, behavioral and molecular profile of a female with two alleles in the premutation range (60 and 67 CGG repeats) in comparison to her brother with a similar premutation size (65 CGG repeats). Both exhibited high IQ scores, anxiety, and some physical features associated with fragile X syndrome. This comparison allows us to examine the effect of the premutation in this male-female pair while controlling for environmental and background genetic factors.
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DOI：
10.4088/jcp.08m04476
发表时间：
2009-06
期刊：
The Journal of clinical psychiatry
影响因子：
--
作者：
Bourgeois JA;Coffey SM;Rivera SM;Hessl D;Gane LW;Tassone F;Greco C;Finucane B;Nelson L;Berry-Kravis E;Grigsby J;Hagerman PJ;Hagerman RJ
通讯作者：
Hagerman RJ
DOI：
10.1097/00004703-200604002-00012
发表时间：
2006-04-01
影响因子：
2.4
作者：
Farzin, Faraz;Perry, Hazel;Hagerman, Randi
通讯作者：
Hagerman, Randi
DOI：
10.1097/00004703-200412000-00002
发表时间：
2004-12-01
影响因子：
2.4
作者：
Goodlin-Jones, BL;Tassone, F;Gane, LW
通讯作者：
Gane, LW
影响因子：
5.3
作者：
Allen, EG;He, WY;Sherman, SL
通讯作者：
Sherman, SL
影响因子：
2.5
作者：
Cornish, K;Kogan, C;Dalton, A
通讯作者：
Dalton, A