A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58
A novel 2 bp deletion in the TM4SF2 gene is associated with MRX58
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DOI：
10.1136/jmg.39.6.430
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发表时间：
2002-06-01
影响因子：
4
通讯作者：
Schwartz, CE
中科院分区：
文献类型：
--
作者：
Abidi, FE;Holinski-Feder, E;Schwartz, CE
X连锁精神发育迟滞（XLMR）约占所有MR的5%，患病率为1/600男性。1 2 XLMR总量的15%至20%是脆性X综合征的结果。3 Neri等4于1991年将非脆性X智力低下分为综合征和非综合征。综合征XLMR实体（MRXS）是指存在与精神发育迟滞相关的身体、神经或代谢异常的特定模式的实体。5非综合征性XLMR（MRX）是指基因突变导致精神发育迟滞，但没有其他明显的畸形、代谢或神经学特征。6目前，XLMR条件包括136个MRX 7和75个MRX 8实体。到目前为止，已经克隆了35个基因。然而，到目前为止，仅鉴定了9个非综合征性XLMR基因：TM 4SF 2、FMR 2、OPHN 1（MRX 60）、GDI 1（MRX 41、MRX 48）、PAK 3（MRX 30、
Xlinked mental retardation (XLMR) represents around 5% of all MR, with a prevalence of 1 in 600 males. 1 2 Fifteen to twenty percent of the total XLMR is the result of the fragile X syndrome. 3 Non-fragile X mental retardation was subdivided into syndromal and non-syndromal conditions by Neri et al4 in 1991. The syndromal XLMR entities (MRXS) are those in which there is a specific pattern of physical, neurological, or metabolic abnormalities associated with the presence of mental retardation. 5 Non-syndromic XLMR (MRX) are conditions in which a gene mutation causes mental retardation in the absence of other distinctive dysmorphic, metabolic, or neurological features. 6 At present, XLMR conditions consist of 136 MRXS7 and 75 MRX8 entities. To date, 35 genes have been cloned. However, so far only nine nonsyndromic XLMR genes have been identified: TM4SF2, FMR2, OPHN1 (MRX60), GDI1 (MRX41, MRX48), PAK3 (MRX30,