Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay
Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25-q29 inversion in an individual with language delay
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DOI：
10.1016/j.ygeno.2005.04.002
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发表时间：
2005-08-01
期刊：
影响因子：
4.4
通讯作者：
Scherer, SW
中科院分区：
文献类型：
--
作者：
Kwasnicka-Crawford, DA;Carson, AR;Scherer, SW
特定语言障碍（SLI）被定义为尽管有足够的智力和环境刺激，但仍无法获得正常的语言技能。尽管 SLI 疾病通常具有遗传性，但遗传基础可能涉及许多危险因素。这项研究描述了一名 7 岁女孩，她患有遗传性 3 号染色体长臂旁中心倒位 [46XX，inv(3)(q25.32-q29)]，具有临床定义的表达和接受语言延迟。使用位点特异性细菌人工染色体克隆 (BAC) 作为探针的荧光原位杂交 (FISH) 来表征倒置 3 号染色体。发现近端和远端倒置断点分别位于标记 D3S3692/D3S1553 和 D3S3590/D3S2305 之间。 ATP13A4 是一种编码阳离子转运 P 型 ATP 酶的新基因，被发现被远端断点破坏。 ATP13A4 基因包含一个 3591 bp 的转录物，包含 30 个外显子，横跨 152 kb 的基因组 DNA。本研究讨论了 ATP13A4 的特征及其与言语障碍的可能关系。 (c) 2005 Elsevier Inc. 保留所有权利。
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-tran sporting 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. (c) 2005 Elsevier Inc. All rights reserved.