5p deletions: Current knowledge and future directions.
5p deletions: Current knowledge and future directions.
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DOI：
10.1002/ajmg.c.31444
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发表时间：
2015-09
期刊：
影响因子：
--
通讯作者：
Campbell DJ
中科院分区：
文献类型：
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作者：
Nguyen JM;Qualmann KJ;Okashah R;Reilly A;Alexeyev MF;Campbell DJ
由5p缺失(5p-)引起的疾病最早是由Lejeune等人发现的。1963年[；C R Hebd Seance Acad Sci 257：3098-3102]。5P-是由5号染色体短臂的部分或全部缺失引起的。最明显的表型特征是尖叫、畸形、生长不良和发育迟缓。本文综述了5P代谢紊乱及其分子基础。位于该区域的基因的半杂合性与表型有关。本文对5P上可能存在剂量敏感的基因进行了综述。由于对这些特定基因的了解越来越多，因此讨论了探索针对5P-个体的潜在靶向治疗的未来方向。
Disorders resulting from 5p deletions (5p–) were first recognized by Lejeune et al. in 1963 [; C R Hebd Seances Acad Sci 257:3098-3102]. 5p– is caused by partial or total deletion of the short arm of chromosome 5. The most recognizable phenotype is characterized by a high-pitched cry, dysmorphic features, poor growth, and developmental delay. This report reviews 5p– disorders and their molecular basis. Hemizygosity for genes located within this region have been implicated in contributing to the phenotype. A review of the genes on 5p which may be dosage sensitive is summarized. Because of the growing knowledge of these specific genes, future directions to explore potential targeted therapies for individuals with 5p– are discussed.