Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Via dei Giacinti 2, Pisa, Italy.
Mol Genet Metab. 2011 Feb;102(2):153-6. doi: 10.1016/j.ymgme.2010.11.005. Epub 2010 Nov 13.
We describe the clinical and molecular features of a child harboring a novel mutation in SLC6A8 gene in association with a milder phenotype than other creatine transporter (CT1) deficient patients (OMIM 300352) [1-7]. The mutation c.757 G>C p.G253R in exon 4 of SLC6A8 was hemizygous in the child, aged 6 years and 6 months, who showed mild intellectual disability with severe speech and language delay. His carrier mother had borderline intellectual functioning. Although the neurochemical and biochemical parameters were fully consistent with those reported in the literature for subjects with CT1 deficit, in our patient within a general cognitive disability, a discrepancy between nonverbal and verbal skills was observed, confirming the peculiar vulnerability of language development under brain Cr depletion.
我们描述了一名儿童的临床和分子特征，该儿童携带 SLC6A8 基因中的新型突变，与其他肌酸转运体 (CT1) 缺乏症患者（OMIM 300352）相比，表型较轻[1-7]。该突变 c.757 G>C p.G253R 位于 SLC6A8 的外显子 4 中，为患儿（6 岁零 6 个月）的半合子，表现为轻度智力残疾伴严重言语和语言延迟。其携带者母亲有边缘智力功能障碍。尽管神经化学和生化参数与文献中报道的 CT1 缺乏症患者完全一致，但在我们的患者中，在一般认知障碍的情况下，观察到非言语和言语技能之间存在差异，这证实了大脑 Cr 耗竭下语言发育的特殊脆弱性。
