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首页> 外文期刊>Genomics >Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.
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Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay.

机译：新型阳离子转运蛋白ATPase基因（ATP13A4）在语言延迟的个体中被3q25-q29反转中断的特性。

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Specific language impairment (SLI) is defined as failure to acquire normal language skills despite adequate intelligence and environmental stimulation. Although SLI disorders are often heritable, the genetic basis is likely to involve a number of risk factors. This study describes a 7-year-old girl carrying an inherited paracentric inversion of the long arm of chromosome 3 [46XX, inv(3)(q25.32-q29)] having clinically defined expressive and receptive language delay. Fluorescence in situ hybridization (FISH) with locus-specific bacterial artificial chromosome clones (BACs) as probes was used to characterize the inverted chromosome 3. The proximal and distal inversion breakpoint was found to reside between markers D3S3692/D3S1553 and D3S3590/D3S2305, respectively. ATP13A4, a novel gene coding for a cation-transporting P-type ATPase, was found to be disrupted by the distal breakpoint. The ATP13A4 gene was shown to comprise a 3591-bp transcript encompassing 30 exons spanning 152 kb of the genomic DNA. This study discusses the characterization of ATP13A4 and its possible involvement in speech-language disorder.
机译：特定语言障碍（SLI）的定义是尽管有足够的智力和环境刺激，但仍无法掌握正常的语言技能。尽管SLI疾病通常是可遗传的，但遗传基础可能涉及许多风险因素。这项研究描述了一个7岁的女孩，携带3号染色体长臂[46XX，inv（3）（q25.32-q29）]的遗传性副中心倒位，具有临床定义的表达和接受语言延迟。以基因座特异性细菌人工染色体克隆（BAC）为探针的荧光原位杂交（FISH）用于表征反向染色体3。发现近端和远端转化断点分别位于标记D3S3692 / D3S1553和D3S3590 / D3S2305之间。 。 ATP13A4是一种编码阳离子运输性P型ATP酶的新型基因，被远端断裂点破坏。 ATP13A4基因显示包含3591 bp的转录本，涵盖30个外显子，跨越基因组DNA 152 kb。这项研究讨论了ATP13A4的表征及其可能与语言障碍有关。

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