Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].
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DOI：
10.1002/ccr3.301
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发表时间：
2015-07
影响因子：
0.7
通讯作者：
Munnich A
中科院分区：
文献类型：
--
作者：
Bouazzi H;Lesca G;Trujillo C;Alwasiyah MK;Munnich A
x连锁智力缺陷（XLID）是一大类遗传疾病。MED12基因引起综合征型和非综合征型XLID。在这个基因中只发现了7个病理性突变。在这里，我们报告了一个新的突变分离与XLID表型。这种突变可能有利于基因型-表型相关性。
X-linked intellectual deficiency (XLID) is a large group of genetic disorders. MED12 gene causes syndromic and nonsyndromic forms of XLID. Only seven pathological mutations have been identified in this gene. Here, we report a novel mutation segregating with XLID phenotype. This mutation could be in favor of genotype–phenotype correlations.