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首页> 外文期刊>American journal of medical genetics, Part A >Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain
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Classic phenotype of Coffin-lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain

机译：雌性棺材减低综合征的典型表型，具有刺激引起的跌落发作和具有保留的N-末端激酶结构域的基因型

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摘要

An adolescent female presented with intellectual disability, stimulus-induced drop episodes (SIDEs), facial characteristics that include wide set eyes, short nose with wide columella, full and everted lips with wide mouth and progressive skeletal changes: scoliosis, spondylolisthesis and pectus excavatum. These findings were suggestive of Coffin-Lowry syndrome (CLS), and this was confirmed by the identification of a novel mutation in RPS6KA3, a heterozygous one basepair duplication at nucleotide 1570 (c.1570dupA). This mutation occurs within the C-terminal kinase domain of the protein, and, therefore contradicts the previous report that SIDEs is only associated with premature truncation of the protein in the N-terminal kinase domain or upstream of this domain. As CLS is X-linked, it is unusual for a female to have such a classic phenotype.
机译：一名青春期女性，具有智力残疾，刺激诱发的跌落发作（SIDEs），面部特征，包括睁大眼睛，短鼻子和宽小肠，嘴唇丰满而外翻，嘴巴宽大和进行性骨骼变化：脊柱侧弯，脊柱滑脱和眼眶凹。这些发现暗示着棺材-Lowry综合征（CLS），并通过在RPS6KA3中发现了一个新的突变得到了证实，RPS6KA3是核苷酸1570上的一个杂合的一个碱基对重复（c.1570dupA）。该突变发生在蛋白质的C末端激酶结构域内，因此与先前的报道相反，即SIDE仅与N末端激酶结构域或该结构域上游的蛋白质过早截断有关。由于CLS是X连锁的，因此女性具有这种经典表型是不寻常的。

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