Phenotypic Variability in a Portuguese Family With X-Linked Creatine Transport Deficiency
Phenotypic Variability in a Portuguese Family With X-Linked Creatine Transport Deficiency
复制标题
DOI：
10.1016/j.pediatrneurol.2011.10.005
复制
发表时间：
2012-01-01
影响因子：
3.8
通讯作者：
Diogo, Luisa
中科院分区：
文献类型：
--
作者：
Garcia, Paula;Rodrigues, Fidjy;Diogo, Luisa
大脑肌酸转运蛋白缺乏症，归因于SLC 6A 8基因突变，导致X连锁智力低下、语言迟缓、癫痫和自闭症特征。与肌酸合成缺陷相反，绝大多数SLC 6A 8缺乏症患者对治疗无反应。我们描述了一个葡萄牙家庭与突变（c.456C>T; p.GIn486X）在SL 6CA 8基因：两个成年同卵双胞胎兄弟，精神发育迟滞和严重的语言障碍。这个家庭还包括他们同父异母的姐姐，她患有精神障碍，主要是语言障碍，以及他们的母亲患有精神障碍。这个家族说明了这种情况下显着的表型变异。肌酸代谢的调查是强制性的患者不明病因的发育迟缓，以发现这种情况。(C)2012 Elsevier Inc. All rights reserved.
Cerebral creatine transporter deficiency, attributable to mutations in the SLC6A8 gene, causes X-linked mental retardation, language delay, epilepsy, and autistic features. In contrast with creatine synthesis defects, the vast majority of patients with SLC6A8 deficiency do not respond to treatment. We describe a Portuguese family with a mutation (c.456C>T; p.GIn486X) in the SL6CA8 gene: two adult monozygotic twin brothers, with psychomotor delay and severe speech impairment. The family also includes their maternal half-sister with psychomotor retardation, predominantly in language, and their mentally retarded mother. This family illustrates the remarkable phenotypic variability in this condition. Investigation of creatine metabolism is mandatory in patients with developmental delay of unknown etiology, to detect this condition. (C) 2012 Elsevier Inc. All rights reserved.