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与PUF60相关的发育障碍:对10名单基PUF60变异型患者的病例系列和表型分析

H Grimes¹, M Ansari², T Ashraf³

¹Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Trust, Bristol, UK.

American journal of medical genetics. Part A

|June 12, 2023

概括

与PUF60相关的发育障碍涉及多种先天性异常和智力困难. 这项研究确定了新的变异和第一个遗传病例,强调了内分泌监测和遗传咨询的必要性.

科学领域:

遗传学和发育生物学
临床医学临床医学
罕见疾病罕见疾病

背景情况:

与PUF60相关的发育障碍 (Verheij综合征) 是由PUF60平分不充分引起的,导致各种先天性异常.
眼科结肠瘤是PUF60相关发育障碍的不太常见但具有诊断意义的特征.
了解遗传基础和临床谱系对于诊断和管理至关重要.

研究的目的:

报告10名PUF60基因变异的新患者,扩大已知的队列.
描述与PUF60相关的遗传发育障碍的第一个实例.
突出关键的临床特征和对患者管理和遗传咨询的影响.

主要方法:

通过国际外基因组测序和英国DDD研究来招募患者.
识别和描述新的和复发的PUF60变体.
临床数据收集和表型特征的分析.

主要成果:

确定了10名患有PUF60变异的新患者,使报告的病例总数增加到56例.
描述了八种新的PUF60变体,以及一个反复出现的c449-457del变体.
记录了与PUF60相关的发育障碍的第一个遗传病例.
共同特征包括心脏 (40%),眼睛 (70%),智力障碍 (60%) 和骨 (80%) 的异常.
在20%的患者中存在脏异常.

结论:

这项研究扩大了对PUF60相关发育障碍的理解,包括其遗传模式.
建议对受影响的个体进行生长,青春期和内分泌功能监测.
鉴定遗传病例对遗传咨询和计划生育有重大影响.

关键词:

在PUF60中,PUF60为60度.维雷伊氏综合征 (Verheij综合征) 是一种有先天性异常.发展障碍发展障碍发展障碍智力障碍智力障碍是一种智力障碍.学习困难学习困难结合体病变是一种结合体病变 (spliceosomopathy).

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