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首页> 外文期刊>Psychiatric genetics >Clinical, cytogenetic, and molecular description of a FRAXE French family.
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Clinical, cytogenetic, and molecular description of a FRAXE French family.

机译：FRAXE法国家族的临床，细胞遗传学和分子描述。

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摘要

BACKGROUND FRAXE is a second locus associated with X chromosome fragility. Similar to FRAXA, the common mutation is a GCC expansion located in the 5' untranslated region, leading to the hypermethylation of the region and to the subsequent inactivation of specific genes (FMR1 and FMR2, respectively). Unlike FRAXA, FRAXE has a rare occurrence and is less currently studied in routine analyses. The phenotype associated with FRAXE is usually considered as mild or moderate mental retardation, with incomplete penetrance. However, phenotype/genotype relations have been less characterized.OBJECTIVE We report a French family with three members affected with mental retardation, including a female suffering from West syndrome, and two mentally retarded males.METHODS After exclusion of the FRAXA expansion by Southern blot analysis, we performed a karyotype using folate-thymidine-deficient medium and a southern blot to search for FRAXE expansion.RESULTS All three mentally retarded patients had a number of repeats over 800 GCC and expressed more than 20% of fragile sites in their leukocytes. Another carrier female with a full expansion had a subnormal mental impairment.CONCLUSIONS Clinical features and both the cytogenetic and molecular findings seem to correlate in this family. We discuss the bias encountered when studying such families and some of the mechanisms that may explain part of the clinical variability.
机译：背景技术FRAXE是与X染色体易碎性相关的第二基因座。与FRAXA相似，共同的突变是位于5'非翻译区的GCC扩展，导致该区域的甲基化过度，并随后导致特定基因（分别为FMR1和FMR2）失活。与FRAXA不同，FRAXE很少出现，并且在常规分析中目前研究较少。与FRAXE相关的表型通常被认为是轻度或中度智力低下，外表不全。然而，表型/基因型之间的关系却鲜为人知。目的我们报道了一个法国家庭，该家庭有三名患有智力障碍的成员，其中包括一名患有韦斯特综合症的女性和两名智障的男性。方法：经Southern blot分析排除FRAXA扩展后的方法结果，所有三位弱智患者的重复次数均超过800 GCC，并在白细胞中表达了超过20％的脆弱部位，从而进行了染色体核型分析，以寻找FRAXE扩增。另一名具有完全扩张能力的女性携带者的精神障碍低于正常水平。结论该家族的临床特征以及细胞遗传学和分子学发现似乎相关。我们讨论在研究此类家族时遇到的偏见以及一些可能解释部分临床变异性的机制。

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